ectodermal dysplasia

Summary

Summary: A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.

Top Publications

  1. ncbi Skin erosions and wound healing in ankyloblepharon-ectodermal defect-cleft lip and/or palate
    Elaine Siegfried
    Kids Dermatology, 621 S New Ballas Road, St Louis, MO 63141, USA
    Arch Dermatol 141:1591-4. 2005
  2. pmc p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation
    H van Bokhoven
    Department of Human Genetics, University Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 69:481-92. 2001
  3. ncbi Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
    J Celli
    Department of Human Genetics 417, University Hospital Nijmegen, The Netherlands
    Cell 99:143-53. 1999
  4. pmc A regulatory feedback loop involving p63 and IRF6 links the pathogenesis of 2 genetically different human ectodermal dysplasias
    Francesca Moretti
    Department of Dermatology, University of Rome Tor Vergata, Rome, Italy
    J Clin Invest 120:1570-7. 2010
  5. ncbi Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases
    Céline Cluzeau
    Universite Paris Descartes, INSERM U, Hopital Necker Enfants Malades, France
    Hum Mutat 32:70-2. 2011
  6. ncbi Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology
    S E Clements
    St John s Institute of Dermatology, King s College London Guy s Campus, London SE1 9RT, UK
    Br J Dermatol 167:134-44. 2012
  7. pmc Mutations in KCTD1 cause scalp-ear-nipple syndrome
    Alexander G Marneros
    Cutaneous Biology Research Center, Massachusetts General Hospital, Charlestown, MA 02129, USA
    Am J Hum Genet 92:621-6. 2013
  8. pmc Cardio-facio-cutaneous syndrome: does genotype predict phenotype?
    Judith E Allanson
    Department of Genetics at Children s Hospital of Eastern Ontario
    Am J Med Genet C Semin Med Genet 157:129-35. 2011
  9. pmc RBPJ mutations identified in two families affected by Adams-Oliver syndrome
    Susan J Hassed
    Department of Pediatrics, University of Oklahoma Health Sciences Center, University of Oklahoma Children s Physicians Building, 1200 Children s Avenue, Oklahoma City, OK 73104, USA
    Am J Hum Genet 91:391-5. 2012
  10. pmc p63 in skin development and ectodermal dysplasias
    Maranke I Koster
    Department of Dermatology, Charles C Gates Regenerative Medicine and Stem Cell Biology Program, University of Colorado Denver, Aurora, Colorado 80045, USA
    J Invest Dermatol 130:2352-8. 2010

Research Grants

Detail Information

Publications258 found, 100 shown here

  1. ncbi Skin erosions and wound healing in ankyloblepharon-ectodermal defect-cleft lip and/or palate
    Elaine Siegfried
    Kids Dermatology, 621 S New Ballas Road, St Louis, MO 63141, USA
    Arch Dermatol 141:1591-4. 2005
  2. pmc p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation
    H van Bokhoven
    Department of Human Genetics, University Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 69:481-92. 2001
    p63 mutations have been associated with EEC syndrome (ectrodactyly, ectodermal dysplasia, and cleft lip/palate), as well as with nonsyndromic split hand-split foot malformation (SHFM)...
  3. ncbi Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
    J Celli
    Department of Human Genetics 417, University Hospital Nijmegen, The Netherlands
    Cell 99:143-53. 1999
    EEC syndrome is an autosomal dominant disorder characterized by ectrodactyly, ectodermal dysplasia, and facial clefts...
  4. pmc A regulatory feedback loop involving p63 and IRF6 links the pathogenesis of 2 genetically different human ectodermal dysplasias
    Francesca Moretti
    Department of Dermatology, University of Rome Tor Vergata, Rome, Italy
    J Clin Invest 120:1570-7. 2010
    The human congenital syndromes ectrodactyly ectodermal dysplasia-cleft lip/palate syndrome, ankyloblepharon ectodermal dysplasia clefting, and split-hand/foot malformation are all characterized by ectodermal dysplasia, limb malformations, ..
  5. ncbi Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases
    Céline Cluzeau
    Universite Paris Descartes, INSERM U, Hopital Necker Enfants Malades, France
    Hum Mutat 32:70-2. 2011
    Hypohidrotic and anhidrotic ectodermal dysplasia (HED/EDA) is a rare genodermatosis characterized by abnormal development of sweat glands, teeth, and hair...
  6. ncbi Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology
    S E Clements
    St John s Institute of Dermatology, King s College London Guy s Campus, London SE1 9RT, UK
    Br J Dermatol 167:134-44. 2012
    AEC (ankyloblepharon-ectodermal defects-clefting) syndrome is an autosomal dominant ectodermal dysplasia disorder caused by mutations in the transcription factor p63...
  7. pmc Mutations in KCTD1 cause scalp-ear-nipple syndrome
    Alexander G Marneros
    Cutaneous Biology Research Center, Massachusetts General Hospital, Charlestown, MA 02129, USA
    Am J Hum Genet 92:621-6. 2013
    ..The identification of KCTD1 mutations in SEN syndrome reveals a role for this BTB-domain-containing transcriptional repressor during ectodermal development...
  8. pmc Cardio-facio-cutaneous syndrome: does genotype predict phenotype?
    Judith E Allanson
    Department of Genetics at Children s Hospital of Eastern Ontario
    Am J Med Genet C Semin Med Genet 157:129-35. 2011
    ..Pulmonary stenosis is the only anomaly that demonstrates a statistically significant genotype–phenotype correlation, being more common in individuals with a BRAF mutation...
  9. pmc RBPJ mutations identified in two families affected by Adams-Oliver syndrome
    Susan J Hassed
    Department of Pediatrics, University of Oklahoma Health Sciences Center, University of Oklahoma Children s Physicians Building, 1200 Children s Avenue, Oklahoma City, OK 73104, USA
    Am J Hum Genet 91:391-5. 2012
    ..Functional assays confirmed impaired DNA binding of mutated RBPJ, placing it among other notch-pathway proteins altered in human genetic syndromes...
  10. pmc p63 in skin development and ectodermal dysplasias
    Maranke I Koster
    Department of Dermatology, Charles C Gates Regenerative Medicine and Stem Cell Biology Program, University of Colorado Denver, Aurora, Colorado 80045, USA
    J Invest Dermatol 130:2352-8. 2010
    ..This review summarizes the current understanding of the role of p63 in normal development and ectodermal dysplasias...
  11. ncbi Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia
    Tim Niehues
    Department of Pediatric Oncology, Heine Universität, Duesseldorf, Germany
    J Allergy Clin Immunol 114:1456-62. 2004
    ..Hypomorphic NEMO mutations in male patients lead to anhidrotic ectodermal dysplasia (EDA) with immunodeficiency.
  12. ncbi Permanent correction of an inherited ectodermal dysplasia with recombinant EDA
    Olivier Gaide
    Institute of Biochemistry, BIL Biomedical Research Center, University of Lausanne, CH 1066 Epalinges, Switzerland
    Nat Med 9:614-8. 2003
    X-linked hypohidrotic ectodermal dysplasia (XLHED; OMIM 305100) is a genetic disorder characterized by absence or deficient function of hair, teeth and sweat glands...
  13. pmc Partial deletion of the bovine ED1 gene causes anhidrotic ectodermal dysplasia in cattle
    C Drogemuller
    Institute of Animal Breeding and Genetics, School of Veterinary Medicine Hannover, 30559 Hannover, Germany
    Genome Res 11:1699-705. 2001
    Anhidrotic ectodermal dysplasia (ED1) is characterized by hypotrichosis, reduced number of sweat glands, and incisior anodontia in human, mouse, and cattle...
  14. ncbi Molecular aspects of hypohidrotic ectodermal dysplasia
    Marja L Mikkola
    Developmental Biology Program, Institute of Biotechnology, University of Helsinki, 00014 Helsinki, Finland
    Am J Med Genet A 149:2031-6. 2009
    Hypohidrotic (anhidrotic) ectodermal dysplasia (HED) is a congenital syndrome characterized by sparse hair, oligodontia, and reduced sweating...
  15. ncbi Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia
    Richard Kellermayer
    Department of Medical Genetics and Child Development, University Medical School of Pecs, József A u 7, Pecs 7623, Hungary
    Eur J Dermatol 15:75-9. 2005
    ..In this study we present a patient with hidrotic ectodermal dysplasia, who had abortive features of oculo-dento-digital dysplasia, extensive hyperkeratosis of the skin...
  16. ncbi The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia
    K Pääkkönen
    Department of Medical Genetics, Haartman Institute, PO Box 21, University of Helsinki, FIN 00014 Helsinki, Finland
    Hum Mutat 17:349. 2001
    Mutations in ectodysplasin, the protein product of the EDA or ED1 gene, cause X-linked anhidrotic ectodermal dysplasia. From sixteen families we have identified thirteen mutations, of which nine were novel: a deletion of the entire exon 1,..
  17. pmc Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs
    Thierry Olivry
    Department of Clinical Sciences, College of Veterinary Medicine, North Carolina State University, Raleigh, North Carolina, United States of America
    PLoS ONE 7:e32072. 2012
    ..the clinical and pathological findings, along with the PKP1 mutation, were consistent with the diagnosis of ectodermal dysplasia-skin fragility syndrome with plakophilin-1 deficiency...
  18. pmc Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome
    Ranad Shaheen
    Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    Am J Hum Genet 89:328-33. 2011
    ....
  19. ncbi The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats
    M Bayes
    Department of Medical Genetics, Haartman Institute, PO Box 21, University of Helsinki, 00014 Helsinki, Finland
    Hum Mol Genet 7:1661-9. 1998
    Anhidrotic ectodermal dysplasia (EDA) is an X-linked recessive disorder which affects ectodermal structures. A cDNA encoding a 135 amino acid protein with mutations in 5-10% of EDA patients has been reported...
  20. pmc Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia
    Zhimiao Lin
    Department of Dermatology, Peking University First Hospital, Beijing, China
    Am J Hum Genet 91:906-11. 2012
    Pure hair and nail ectodermal dysplasia (PHNED) is a congenital condition characterized by hypotrichosis and nail dystrophy. Autosomal-recessive PHNED has previously been mapped to chromosomal region 12q12-q14...
  21. pmc Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies
    Laura Southgate
    Department of Medical and Molecular Genetics, King s College London, School of Medicine, Guy s Hospital, London, London, UK
    Am J Hum Genet 88:574-85. 2011
    ..These data identify the requirement for regulated Cdc42 and/or Rac1 signaling processes during early human development...
  22. pmc Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia
    Lynn Adaimy
    Unite de Genetique Medicale, Faculte de Medecine, Universite Saint Joseph de Beyrouth, Paris, France
    Am J Hum Genet 81:821-8. 2007
    ..first report to our knowledge of a human phenotype resulting from a mutation in WNT10A, and it is the first demonstration of an ectodermal dysplasia caused by an altered WNT signaling pathway, expanding the list of WNT-related diseases.
  23. pmc Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome
    Gabriele Richard
    Department of Dermatology and Cutaneous Biology and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Am J Hum Genet 70:1341-8. 2002
    Keratitis-ichthyosis-deafness syndrome (KID) is a rare ectodermal dysplasia characterized by vascularizing keratitis, profound sensorineural hearing loss (SNHL), and progressive erythrokeratoderma, a clinical triad that indicates a ..
  24. pmc Defective nuclear IKKα function in patients with ectodermal dysplasia with immune deficiency
    Stephane T Temmerman
    Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland 20892, USA
    J Clin Invest 122:315-26. 2012
    b>Ectodermal dysplasia with immune deficiency (EDI) is an immunological and developmental disorder caused by alterations in the gene encoding NF-κB essential modulator (NEMO; also known as IκB kinase γ subunit [IKKγ])...
  25. ncbi Recognition of p63 by the E3 ligase ITCH: Effect of an ectodermal dysplasia mutant
    A Bellomaria
    Dipartimento di Scienze e Tecnologie Chimiche, University of Rome Tor Vergata, Italy
    Cell Cycle 9:3730-9. 2010
    ..Based on our results, we propose an extended PP xY motif for the Itch recognition motif (P-P-P-Y-x(4)-[ST]-[ILV]), which includes these C-terminal residues to the PP xY motif...
  26. ncbi Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation
    S E Clements
    Genetic Skin Disease Group, St John s Institute of Dermatology, King s College London Guy s Campus, London, UK
    Br J Dermatol 162:201-7. 2010
    Summary EEC (ectrodactyly, ectodermal dysplasia, clefting; OMIM 604292) syndrome is an autosomal dominant developmental disorder...
  27. ncbi Neurological complications of cardio-facio-cutaneous syndrome
    Grace Yoon
    Department of Pediatrics, Division of Medical Genetics, The Hospital for Sick Children, University of Toronto, Canada
    Dev Med Child Neurol 49:894-9. 2007
    ..Seizures were present in 15 participants. No specific genotype-phenotype correlation was observed...
  28. ncbi Adult mice lacking the p53/p63 target gene Perp are not predisposed to spontaneous tumorigenesis but display features of ectodermal dysplasia syndromes
    R A Ihrie
    Cell Death Differ 13:1614-8. 2006
  29. ncbi Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome presenting with a large nephrogenic cyst, severe oligohydramnios and hydrops fetalis: a case report and review of the literature
    Tuenjai Chuangsuwanich
    Department of Pathology, Siriraj Hospital Faculty of Medicine, Mahidol University, Bangkok, Thailand
    Prenat Diagn 25:210-5. 2005
    ..To report a case of EEC syndrome with a large nephrogenic cyst detected by prenatal ultrasonography...
  30. ncbi Mutations in GJB6 cause hidrotic ectodermal dysplasia
    J Lamartine
    Laboratoire de Génomique et Radiobiologie du Kératinocyte EA 2541 Université d Evry CEA, Service de Génomique Fonctionnelle, Departement de Radiobiologie et Radiopathologie, Evry, France
    Nat Genet 26:142-4. 2000
  31. ncbi Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases
    N Chassaing
    INSERM, U563, Centre de Physiopathologie de Toulouse Purpan, Toulouse, F 31300 France
    Br J Dermatol 162:1044-8. 2010
    Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of the eccrine sweat glands, hair and teeth. The X-linked form of the disease, caused by mutations in the EDA gene, represents the majority of HED cases...
  32. pmc ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia
    Christie Ann McCarl
    Department of Pathology, New York University, Langone Medical Center, New York, NY 10016, USA
    J Allergy Clin Immunol 124:1311-1318.e7. 2009
    ..T-cell activation requires Ca2+ influx through Ca2+-release activated Ca2+ (CRAC) channels encoded by the gene ORAI1...
  33. pmc Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome
    Francesco Brancati
    Department of Biomedical Sciences, Gabriele d Annunzio University, Chieti, Italy
    Am J Hum Genet 87:265-73. 2010
    ..The combination of hair and tooth abnormalities, alopecia, and cutaneous syndactyly is characteristic of ectodermal dysplasia-syndactyly syndrome (EDSS)...
  34. pmc A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency
    Gilles Courtois
    Unité de Biologie Moléculaire de l Expression Génique, Centre National de la Recherche Scientifique URA 2582, Institut Pasteur, Paris, France
    J Clin Invest 112:1108-15. 2003
    X-linked anhidrotic ectodermal dysplasia with immunodeficiency (XL-EDA-ID) is caused by hypomorphic mutations in the gene encoding NEMO/IKKgamma, the regulatory subunit of the IkappaB kinase (IKK) complex...
  35. ncbi Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A
    P Schneider
    Institute of Biochemistry, BIL Biomedical Research Center, University of Lausanne, Boveresses 156, CH-1066 Epalinges, Switzerland
    J Biol Chem 276:18819-27. 2001
    ..of the tumor necrosis factor (TNF) family, are responsible for the human disorder X-linked hypohidrotic ectodermal dysplasia (XLHED) characterized by impaired development of hair, eccrine sweat glands, and teeth...
  36. ncbi Prosthetic treatments for patients with ectodermal dysplasia
    A J Hickey
    Maine Medical Center, Portland, ME, USA
    J Prosthet Dent 86:364-8. 2001
    ..A treatment protocol for meeting patients' functional and esthetic needs as they grow into adulthood is presented...
  37. ncbi Early prosthetic treatment of patients with ectodermal dysplasia: a clinical report
    Ildiko Tarjan
    Department of Pediatric Dentistry and Orthodontics, Semmelweis University, Budapest, Hungary
    J Prosthet Dent 93:419-24. 2005
    Hypohidrotic ectodermal dysplasia is a hereditary disorder of ectodermal origin...
  38. ncbi p63-associated disorders
    Tuula Rinne
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Cell Cycle 6:262-8. 2007
    Heterozygous mutations in the transcription factor gene p63 are causative for several syndromes, with ectodermal dysplasia, orofacial clefting and limb malformations as the key characteristics...
  39. ncbi The ectodermal dysplasia receptor activates the nuclear factor-kappaB, JNK, and cell death pathways and binds to ectodysplasin A
    A Kumar
    Hamon Center for Therapeutic Oncology Research and the Division of Hematology Oncology, University of Texas Southwestern Medical Center, Dallas 75390 8593, USA
    J Biol Chem 276:2668-77. 2001
    The ectodermal dysplasia receptor (EDAR) is a recently isolated member of the tumor necrosis factor receptor family that has been shown to play a key role in the process of ectodermal differentiation...
  40. ncbi Dento-craniofacial phenotypes and underlying molecular mechanisms in hypohidrotic ectodermal dysplasia (HED): a review
    F Clauss
    Department of Pediatric Dentistry, Louis Pasteur University, National French Reference Center for Dental Manifestations of Rare Diseases, University Hospital, Place de l Hopital, F 67000 Strasbourg, France
    J Dent Res 87:1089-99. 2008
    ..All these clinical observations and molecular data allow for the specification of the craniofacial phenotypic spectrum in HED and provide a better understanding of the mechanisms involved in the pathogenesis of this syndrome...
  41. ncbi Dental implants in patients with ectodermal dysplasia and tooth agenesis: a critical review of the literature
    Alan K W Yap
    Faculty of Dentistry, University of Sydney, Professorial Unit, Sydney, Australia
    Int J Prosthodont 22:268-76. 2009
    The aims of this article are to critique the available literature on dental implants in patients with ectodermal dysplasia (ED) syndrome and tooth agenesis, review the outcomes of implant therapy in these patients, and provide ..
  42. ncbi The management of ectodermal dysplasia and severe hypodontia. International conference statements
    J A Hobkirk
    Division of Restorative Dental Sciences, UCL Eastman Dental Institute for Oral Healthcare Sciences, University College London, London, UK
    J Oral Rehabil 33:634-7. 2006
    ..The statements are intended to form an international framework for developing patient care pathways, and collaborative research in this field...
  43. pmc DeltaNp63 knockdown mice: A mouse model for AEC syndrome
    Maranke I Koster
    Department of Dermatology and Charles C Gates Regenerative Medicine and Stem Cell Biology Program, University of Colorado Denver, Aurora, CO 80045, USA
    Am J Med Genet A 149:1942-7. 2009
    Dominant mutations in TP63 cause ankyloblepharon ectodermal dysplasia and clefting (AEC), an ectodermal dysplasia characterized by skin fragility...
  44. ncbi Clinical findings in mosaic carriers of hypohidrotic ectodermal dysplasia
    S Cambiaghi
    Istituto di Scienze Dermatologiche, Centro per le Malattie Cutanee Ereditarie, IRCCS Ospedale Maggiore, University of Milan, Italy
    Arch Dermatol 136:217-24. 2000
    Hypohidrotic ectodermal dysplasia (HED) is a severe developmental disorder in which nonallelic genetic heterogeneity has been demonstrated...
  45. pmc Differential PERP regulation by TP63 mutants provides insight into AEC pathogenesis
    VERONICA G BEAUDRY
    Division of Radiation and Cancer Biology, Department of Radiation Oncology, Stanford University School of Medicine, 269 Campus Drive, Stanford, CA 94305 5152, USA
    Am J Med Genet A 149:1952-7. 2009
    Ankyloblepharon Ectodermal Dysplasia and Cleft Lip/Palate (AEC) or Hay-Wells Syndrome is an autosomal dominant disorder characterized by a variety of phenotypes in ectodermal derivatives, including severe skin erosions, ankyloblepharon, ..
  46. ncbi Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome
    Meena R Julapalli
    Texas Children s Hospital, Department of Pediatric Dermatology, Baylor College of Medicine, 6621 Fannin Street, Houston, TX 77030, USA
    Am J Med Genet A 149:1900-6. 2009
    Hay-Wells syndrome, caused by mutations in the p63 gene, is an autosomal dominant ectodermal dysplasia with the main features of ankyloblepharon filiforme adnatum, ectodermal defects, and cleft lip/palate, from which the disorder's other ..
  47. ncbi Surgical and prosthodontic treatment alternatives for children and adolescents with ectodermal dysplasia: a clinical report
    Pervin Imirzalioglu
    Faculty of Dentistry, Baskent University, Ankara, Turkey
    J Prosthet Dent 88:569-72. 2002
    b>Ectodermal dysplasia with oligodontia and anodontia is characterized by absence or deficiency of the alveolar ridges. The optimal surgical and prosthetic approach varies in relation to patient age and the amount of bone that is present...
  48. ncbi IKKalpha is a p63 transcriptional target involved in the pathogenesis of ectodermal dysplasias
    Barbara Marinari
    Department of Dermatology, University of Rome Tor Vergata, Rome, Italy
    J Invest Dermatol 129:60-9. 2009
    ..required for IKKalpha expression in differentiating keratinocytes and that mutant p63 proteins expressed in ectodermal dysplasia patients exhibit defects in inducing IKKalpha...
  49. ncbi Psychosocial stress and adaptive functioning in children and adolescents suffering from hypohidrotic ectodermal dysplasia
    P Hummel
    Department of Child and Adolescent Psychiatry, , Germany
    Pediatr Dermatol 14:180-5. 1997
    In its fully manifest form, hypohidrotic ectodermal dysplasia (HED) leads to a typical dysmorphia of the face, referred to as "old man" facies...
  50. ncbi TP63 gene mutations in Chinese P63 syndrome patients
    W Yin
    Key Laboratory for Oral Biomedical Engineering of the Ministry of Education, Hospital and School of Stomatology, Wuhan University, Luoyu Road 237, Wuhan 430079, P R China
    J Dent Res 89:813-7. 2010
    ..Mutations in TP63 can give rise to a series of syndromes characterized by various combinations of ectodermal dysplasia, limb malformations, and orofacial clefting in many populations...
  51. ncbi The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q
    Z Kibar
    Centre for Research in Neurosciences, Montreal General Hospital, Quebec, Canada
    Hum Mol Genet 5:543-7. 1996
    Hidrotic ectodermal dysplasia (HED), Clouston type, is an autosomal dominant skin disorder which is most common in the French-Canadian population and is characterized by hair defects, nail dystrophy and palmoplantar hyperkeratosis...
  52. ncbi A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian family
    Muhammad Farooq
    Laboratory of Genetic Skin Diseases, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
    Hum Mutat 34:578-81. 2013
    Pure hair and nail ectodermal dysplasia (PHNED) is a rare genetic disorder characterized by hypotrichosis or complete alopecia, as well as nail dystrophy...
  53. ncbi Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia
    Annemarie H van der Hout
    Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands
    Eur J Hum Genet 16:673-9. 2008
    Hypohidrotic ectodermal dysplasia (HED) can be caused by mutations in the X-linked ectodysplasin A (ED1) gene or the autosomal ectodysplasin A-receptor (EDAR) and EDAR-associated death domain (EDARADD) genes...
  54. ncbi Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia
    Julie Plaisancié
    Service de Genetique Medicale, Hopital Purpan, CHU, Toulouse, France
    Am J Med Genet A 161:671-8. 2013
    ..Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of eccrine sweat glands, hair, and teeth...
  55. ncbi Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome
    Megan K Dishop
    Department of Pathology, Texas Children s Hospital, Baylor College of Medicine, 6621 Fannin, Houston, TX 77030, USA
    Am J Med Genet A 149:1935-41. 2009
    ..Skin and hair findings in AEC syndrome were found to be generally similar to those described in other ectodermal dysplasia syndromes and corroborates the few prior descriptions in AEC syndrome specifically.
  56. ncbi Oral findings in ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome
    Frank Farrington
    Virginia Commonwealth University School of Dentistry, Pediatric Dentistry, 521 North 11th Street, Richmond, VA 23298, USA
    Am J Med Genet A 149:1907-9. 2009
    ..findings of individuals ranging in age from 4 months to 30 years of age diagnosed with ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome. The average number of permanent teeth present is 4...
  57. ncbi Role of TRAF3 and -6 in the activation of the NF-kappa B and JNK pathways by X-linked ectodermal dysplasia receptor
    Suwan K Sinha
    Hamon Center for Therapeutic Oncology Research and Division of Hematology Oncology, University of Texas Southwestern Medical Center, Dallas, Texas 75390 8593, USA
    J Biol Chem 277:44953-61. 2002
    X-linked ectodermal dysplasia receptor (XEDAR) is a recently isolated member of the tumor necrosis factor receptor family that has been shown to be highly expressed in ectodermal derivatives during embryonic development and binds to ..
  58. ncbi Hypotrichosis and nail dysplasia: a novel hidrotic ectodermal dysplasia
    Shannon Harrison
    Department of Medicine Dermatology, St Vincent s Hospital, Fitzroy, Melbourne, Victoria 5065, Australia
    Australas J Dermatol 45:103-5. 2004
    We report a unique isolated hair and nail ectodermal dysplasia in a 3-year-old girl. Clinical examination revealed short, sparse scalp hair, absent eyebrows, short eyelashes and nail dystrophy in all digits...
  59. pmc Generation and characterization of function-blocking anti-ectodysplasin A (EDA) monoclonal antibodies that induce ectodermal dysplasia
    Christine Kowalczyk-Quintas
    From the Department of Biochemistry, University of Lausanne, CH 1066 Epalinges, Switzerland
    J Biol Chem 289:4273-85. 2014
    ..EDA gene cause reduction or absence of many ectodermal appendages and have been identified as a cause of ectodermal dysplasia in humans, mice, dogs, and cattle...
  60. ncbi Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2
    M Naeem
    Department of Biological Sciences, Quaid i Azam University, Islamabad, Pakistan
    Br J Dermatol 155:1184-90. 2006
    ..In an effort to understand the molecular bases of ED of hair and nail type, we studied a Pakistani consanguineous family with multiple affected individuals...
  61. ncbi ADULT ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene
    I Chan
    Genetic Skin Disease Group, St John s Institute of Dermatology, The Guy s, King s, and St Thomas School of Medicine, St Thomas Hospital, London, UK
    Clin Exp Dermatol 29:669-72. 2004
    Several ectodermal dysplasia syndromes have been shown to result from mutations in the gene that encodes the transcription factor p63...
  62. ncbi Differential altered stability and transcriptional activity of ΔNp63 mutants in distinct ectodermal dysplasias
    Gareth Browne
    Medical Research Council, Leicester University, Leicester LE19HN, UK
    J Cell Sci 124:2200-7. 2011
    ..mutations of p63, a key transcription factor in epithelial development, are causative in a variety of human ectodermal dysplasia disorders...
  63. ncbi Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia
    K Kobielak
    Department of Biochemistry and Molecular Biology University of Medical Sciences, Poznan, Poland
    Am J Med Genet 100:191-7. 2001
    Anhidrotic ectodermal dysplasia (EDA) is caused by mutations in the EDA gene encoding ectodysplasin A, a member of the TNF ligand superfamily involved in the communication between the cells...
  64. pmc Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia
    Y Chen
    Department of Molecular and Medical Genetics, Oregon Health Sciences University, 3160 Sam Jackson Park Road, Portland, OR 97260, USA
    Proc Natl Acad Sci U S A 98:7218-23. 2001
    X-linked hypohidrotic ectodermal dysplasia (XLHED) is a heritable disorder of the ED-1 gene disrupting the morphogenesis of ectodermal structures...
  65. pmc Three successive generations of women with anhidrotic/hypohidrotic ectodermal dysplasia
    Rui G Rodrigues
    Department of Pediatrics, Penn State Milton S Hershey Medical Center, Hershey, PA 17033 0850, USA
    J Natl Med Assoc 97:99-101. 2005
    We describe the findings of anhidrotic/hypohidrotic ectodermal dysplasia in three successive generations of a family. All three women had variable alopecia, anhidrosis, hypodontia and malar hypoplasia...
  66. ncbi Unusual physical features and heat stroke presentation for hypohydrotic ectodermal dysplasia
    Pankaj Prasun
    Children s Hospital of Michigan, Department of Radiology, Detroit Medical Center, Detroit, MI 48201, USA
    Clin Dysmorphol 21:24-6. 2012
    Hypohidrotic/ anhidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (decreased tooth development)...
  67. pmc Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23
    K Suzuki
    Department of Medical Genetics, University of Wisconsin, Madison, USA
    Am J Hum Genet 63:1102-7. 1998
    Margarita Island ectodermal dysplasia (ED4) is an autosomal recessive disorder characterized by unusual facies, dental anomalies, hypotrichosis, palmoplantar hyperkeratosis and onychodysplasia, syndactyly, and cleft lip/cleft palate...
  68. ncbi Two novel TP63 mutations associated with the ankyloblepharon, ectodermal defects, and cleft lip and palate syndrome: a skin fragility phenotype
    Aimee S Payne
    Department of Dermatology, University of Pennsylvania, 220 Clinical Research Building, 415 Curie Boulevard, Philadelphia, PA 19104, USA
    Arch Dermatol 141:1567-73. 2005
    ..Recent structure-function studies have identified complexities in the genotype-phenotype correlation of the p63 syndromes...
  69. ncbi Orthodontic and prosthodontic treatment of ectodermal dysplasia--a case report
    M Yenisey
    Ondokuz Mayis University, Faculty of Dentistry, 55139 Kurupelit Samsun, Turkey
    Br Dent J 196:677-9. 2004
    In addition to its other symptoms, ectodermal dysplasia causes anodontia and hypodontia intraorally. Partial or total anodontia results in some loss of function, such as chewing, and affects aesthetics...
  70. ncbi Ankyloblepharon-ectodermal dysplasia-clefting syndrome: a novel p63 mutation associated with generalized neonatal erosions
    Shilpa S Sawardekar
    Penn State University College of Medicine, Pennsylvania, USA
    Pediatr Dermatol 28:313-7. 2011
    Ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome is a rare disorder characterized by ankyloblepharon (congenital adhesions of the eyelids), ectodermal dysplasia, and orofacial clefts...
  71. pmc A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
    M Naeem
    J Med Genet 43:274-9. 2006
    ..To date, four different types of ectodermal dysplasia involving only hair and nails have been described...
  72. ncbi Hereditary ectodermal dysplasia: a case report
    B S Suprabha
    Department of Pedodontics and Preventive Dentistry, College of Dental Surgery, Mangalore
    J Indian Soc Pedod Prev Dent 20:37-40. 2002
    Hereditary ectodermal dysplasia is an inherited disorder involving skin, hair, nails and teeth. Two main clinical forms have been described--hypohidrotic type and hidrotic type...
  73. ncbi Complete denture prosthodontics in children with ectodermal dysplasia: review of principles and techniques
    Avinash S Bidra
    Department of Prosthodontics, University of Texas Health Science Center, San Antonio, Texas, USA
    Compend Contin Educ Dent 31:426-33; quiz 434, 444. 2010
    b>Ectodermal dysplasia (ED) is a hereditary condition in which a minimum of two ectodermal structures fail to develop. Anodontia, or hypodontia, is one of the most common manifestations of this condition...
  74. ncbi Cleft lip and palate repair in Hay-Wells/ankyloblepharon-ectodermal dysplasia-clefting syndrome
    David S Cabiling
    Department of Surgery and Division of Plastic Surgery at The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104 4318, USA
    Cleft Palate Craniofac J 44:335-9. 2007
    Hay-Wells/ankyloblepharon-ectodermal dysplasia-clefting syndrome is a rare autosomal dominant disorder characterized by ankyloblepharon, ectodermal dysplasia, and cleft lip and/or cleft palate...
  75. ncbi X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival
    Ryuta Nishikomori
    Department of Pediatrics and Laboratory Medicine, Graduate School of Medicine, Kyoto University, 54 Shogoin Kawaharacho, Sakyo, Kyoto 606 8507, Japan
    Blood 103:4565-72. 2004
    X-linked ectodermal dysplasia and immunodeficiency (XL-EDA-ID) is an X-linked recessive disease caused by a mutation in the nuclear factor-kappaB (NF-kappaB) essential modulator (NEMO)...
  76. pmc A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency
    Eduardo Lopez-Granados
    Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases NIAID, National Institutes of Health NIH, Bethesda, Maryland 20892, USA
    Hum Mutat 29:861-8. 2008
    ..factor kappa B (NF-kappaB) essential modulator (NEMO; HUGO-approved symbol IKBKG) underlie most cases of ectodermal dysplasia with immune deficiency (EDI), a human disorder characterized by anhidrosis with diminished immunity...
  77. ncbi Prune belly anomaly on prenatal ultrasound as a presenting feature of ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC)
    S Janssens
    Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Genet Couns 19:433-7. 2008
    ..R204W) in the p63 gene. With this paper we confirm the previously reported occurrence of prune belly anomaly in the EEC syndrome, however here in this family proven by genetic analysis...
  78. ncbi Midface growth in patients with ectrodactyly-ectodermal dysplasia-clefting syndrome
    Craig B Birgfeld
    Department of Surgery, Division of Plastic Surgery, Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Plast Reconstr Surg 120:144-50. 2007
    Ectrodactyly-ectodermal dysplasia-clefting syndrome is an autosomal dominant disorder involving abnormalities of the hands, feet, skin, and teeth and clefts of the lip and palate...
  79. ncbi Three-dimensional sonographic findings associated with ectrodactyly ectodermal dysplasia clefting syndrome
    Lisa M Allen
    Regional Perinatal Center, Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, State University of New York Upstate Medical University, Syracuse, NY 13202, USA
    J Ultrasound Med 27:149-54. 2008
    ..of ectrodactyly and syndactyly of the hands and feet, a cleft lip with or without a cleft palate, and ectodermal dysplasia. In addition, abnormalities of the genitourinary system occur frequently in association with this syndrome...
  80. ncbi Ectrodactyly-ectodermal dysplasia-clefting syndrome-plastic surgeon's considerations
    Piotr Wojcicki
    Department of Plastic Surgery, Wroclaw Medical University, Poland
    J Craniofac Surg 21:1388-92. 2010
    Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is a rare autosomally dominant disorder phenotypically characterized by specific abnormalities of the hand, feet, and orofacial region coexisting with ectodermal dysplasia features...
  81. ncbi Prosthodontic rehabilitation of an anhidrotic ectodermal dysplasia patient: a clinical report
    D P NaBadalung
    School of Dentisry, University of Washington, Seattle, Washington, USA
    J Prosthet Dent 81:499-502. 1999
    ..report describes the characteristics and prosthodontic restoration of a young male patient with anhidrotic ectodermal dysplasia. With proper care and prosthodontic treatment, the patient can enjoy a relatively normal life...
  82. pmc Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations
    Maria Lisa Dentici
    IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo e Istituto CSS Mendel, Rome, Italy
    Eur J Hum Genet 17:733-40. 2009
    ..Conversely, congenital heart defects, particularly mitral valve and septal defects, and ocular anomalies seem to be less frequent among MEK1/MEK2 mutation-positive patients...
  83. ncbi Treatment outcomes for adolescent ectodermal dysplasia patients treated with dental implants
    I P Sweeney
    The University of Melbourne, Turramurra, Sydney, NSW, Australia
    Int J Paediatr Dent 15:241-8. 2005
    To evaluate dental implant survival in patients with ectodermal dysplasia (ED). To assess patterns of hypodontia in this patient group.
  84. ncbi Corneal changes in ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome: case series and literature review
    Anthony F Felipe
    Cornea Service Wills Eye Institute, 840 Walnut Street, Philadelphia, PA 19107, USA
    Int Ophthalmol 32:475-80. 2012
    The aim of this study is to describe the corneal changes in three unrelated patients with ectrodactyly-ectodermal dysplasia-cleft lip and palate (EEC) syndrome and review the literature on the possible etiology and clinical presentation ..
  85. ncbi Craniofacial changes following early prosthetic treatment in a case of hypohidrotic ectodermal dysplasia with complete anodontia
    L Franchi
    Department of Orthodontics, University of Florence
    ASDC J Dent Child 65:116-21. 1998
    The authors describe early prosthetic treatment in a case of hypohidrotic ectodermal dysplasia with complete anodontia. Craniofacial changes were analyzed by means of Ricketts' cephalometric analysis and superimposition methods...
  86. pmc TRAF6-deficient mice display hypohidrotic ectodermal dysplasia
    Asuka Naito
    Division of Oncology, Department of Cancer Biology, Institute of Medical Science, University of Tokyo, Minato ku, Tokyo 108 8639, Japan
    Proc Natl Acad Sci U S A 99:8766-71. 2002
    ..in Tabby (Ta), downless (dl), and crinkled (cr) mice, which are models of hypohidrotic (anhidrotic) ectodermal dysplasia in human...
  87. ncbi Alopecia in congenital hidrotic ectodermal dysplasia responding to treatment with a combination of topical minoxidil and tretinoin
    Shubha Melkote
    Department of Dermatology, LTM Medical College and General Hospital, Sion, Mumbai, India
    Int J Dermatol 48:184-5. 2009
    Clouston's syndrome is an ectodermal dysplasia characterized by dystrophic nails, alopecia, and palmoplantar hyperkeratosis. Alopecia is due to decrease in number and degree of maturation of the hair follicles...
  88. ncbi Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations
    Enzo Di Iorio
    The Veneto Eye Bank Foundation, Venice, Italy
    Ophthalmology 119:74-83. 2012
    To describe the ocular phenotype in patients with ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome (MIM#604292) and to determine the pathogenic basis of visual morbidity.
  89. ncbi Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome
    Laila Rifai
    Department of Medical Genetics, AP HP Robert DEBRE University Hospital, Paris, France
    Am J Med Genet A 152:111-7. 2010
    ..with abnormally shaped teeth, normal sweating, and normal fingernails, consistent with a diagnosis of ectodermal dysplasia. Array CGH analysis (Agilent 44K) showed the deletion to span 26 Mb, between cytogenetic bands 2q31...
  90. pmc Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome
    Jelena Urosevic
    Molecular Oncology Program, Centro Nacional de Investigaciones Oncologicas CNIO, E 28029 Madrid, Spain
    Proc Natl Acad Sci U S A 108:5015-20. 2011
    ..Moreover, they may serve as a tool to evaluate the potential therapeutic efficacy of B-RAF inhibitors and establish the precise window at which they could be effective against this congenital syndrome...
  91. ncbi Histopathological and ultrastructural study of ectodermal dysplasia/skin fragility syndrome
    Reuven Bergman
    The Department of Dermatology, Rambam Medical Center, Technion Israel, Institute of Technology, Haifa
    Am J Dermatopathol 27:333-8. 2005
    b>Ectodermal dysplasia/skin fragility syndrome (EDSFS) (MIM604536) is a newly described autosomal recessive disorder characterized by skin fragility and blistering, palmoplantar keratoderma, abnormal hair growth, nail dystrophy, and ..
  92. ncbi X-linked anhidrotic (hypohidrotic) ectodermal dysplasia caused by a novel mutation in EDA1 gene: 406T > G (Leu55Arg)
    F Martinez
    J Invest Dermatol 113:285-6. 1999
  93. ncbi Bazex-Dupré-Christol syndrome: an ectodermal dysplasia with skin appendage neoplasms
    Marco Castori
    Medical Genetics, Experimental Medicine Department, Sapienza University of Rome, San Camillo Forlanini Hospital, Circonvallazione Gianicolense, 87, I 00152 Rome, Italy
    Eur J Med Genet 52:250-5. 2009
    ..and dry skin in Bazex-Dupré-Christol syndrome indicates that it may be better classified as an ectodermal dysplasia. Comparison with other conditions combining features of ectodermal dysplasia and proneness to skin tumors ..
  94. ncbi Simultaneous functional and fixed appliance therapy for growth modification and dental alignment prior to prosthetic habilitation in hypohidrotic ectodermal dysplasia: a clinical report
    Sunjay Suri
    Oral Health Sciences Center, Post Graduate Institute of Medical Education and Research, Chandigarh, India
    J Prosthet Dent 92:428-33. 2004
    ..and align teeth in preparation for prosthodontic habilitation of a growing child with hypohidrotic ectodermal dysplasia. The treatment objective was to create a more favorable starting point for the prosthodontic phase of ..
  95. ncbi Prospective clinical trial of dental implants in persons with ectodermal dysplasia
    Albert D Guckes
    School of Dentistry, University of North Carolina, Chapel Hill, NC 27599, USA
    J Prosthet Dent 88:21-5. 2002
    b>Ectodermal dysplasia is a hereditary condition in which hypodontia is the second most frequently occurring sign...
  96. ncbi Hypohidrotic ectodermal dysplasia (HED)
    Bilal Ahmed
    Department of Prosthodontics, de Montmorency Institute of Dental Sciences, Lahore, Pakistan
    J Coll Physicians Surg Pak 16:61-3. 2006
    Hypohidrotic Ectodermal Dysplasia (HED) is a hereditary congenital disorder of ectodermal origin...
  97. ncbi Hypohidrotic ectodermal dysplasia: a case report
    Izzet Yavuz
    Department of Pediatric Dentistry, University of Dicle, Faculty of Dentistry, Diyarbakir, Turkey
    Quintessence Int 39:81-6. 2008
    ..b>Ectodermal dysplasia has emotional consequences for affected individuals at early ages...
  98. ncbi The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene
    Hacer Ergin
    Department of Pediatrics, Pamukkale University Faculty of Medicine, Denizli, Turkey
    Turk J Pediatr 52:529-33. 2010
    ..mutation of the p63 gene is suggested in a number of human syndromes including limb development and/or ectodermal dysplasia. The EEC syndrome, consisting of ectrodactyly (E), ectodermal dysplasia (E) and cleft lip (C) with or ..
  99. ncbi Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother
    Sophie Dupuis-Girod
    Unité d Immunologie et d Hé matologie pédiatriques, Hopital Necker Enfants Malades, Paris, France
    Pediatrics 109:e97. 2002
    A child with X-linked osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency (OL-EDA-ID) was recently reported...
  100. ncbi Ectodermal dysplasia-skin fragility syndrome
    John A McGrath
    St John s Institute of Dermatology, Floor 9 Tower Wing, Guy s Campus, Great Maze Pond, London SE1 9RT, UK
    Dermatol Clin 28:125-9. 2010
    ..The collection of clinical features in individuals with PKP1 mutations has been termed ectodermal dysplasia-skin fragility (ED-SF) syndrome...
  101. ncbi A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting
    L Sorasio
    Department of Pediatrics, University of Torino, Torino, Italy
    Clin Exp Dermatol 34:e726-8. 2009
    Ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome is an autosomal dominant form of ectodermal dysplasia associated with limb anomalies and orofacial clefting...

Research Grants31

  1. HYPOHIDROTIC ECTODERMAL DYSPLASIA--A GENETIC ANALYSIS
    Jonathan Zonana; Fiscal Year: 2002
    ..EDs) are a clinically and genetically heterogeneous group of disorders, with X-linked hypohidrotic ectodermal dysplasia (XLHED) being the most common of them...
  2. IDENTIFYING THE SETLEIS SYNDROME GENE DEFECT
    NITZA DIAZ BLANCO; Fiscal Year: 2005
    ..SS is a form of ectodermal dysplasia believed to be inherited as an automosal recessive trait...
  3. A Canine Model for Human X-Linked Ectodermal Dysplasia
    Margret Casal; Fiscal Year: 2007
    ..I have been able to establish a colony of dogs with clinical, pathologic, and genetic features of X-linked ectodermal dysplasia (HED) characterized by hypoplasia of hair and sweat glands, and missing and malformed teeth...
  4. ION CHANNELS AND SIGNALING MECHANISMS IN T LYMPHOCYTES
    Richard S Lewis; Fiscal Year: 2013
    ..SOC functio in humans leads to a devastating severe combined immunodeficiency with additional myopathy and ectodermal dysplasia. Remarkable progress has been made recently in delineating a diffusion-trap mechanism to explain how these ..
  5. Elucidating the transcriptional network in p63 expressing mammary myoepithelium
    Satrajit Sinha; Fiscal Year: 2013
    ..mouse model, dominant mutations of the Trp63 gene are found in human disorders with various combinations of ectodermal dysplasia, orofacial clefting and limb malformations...
  6. The Role of NEMO Ubiquitination in EDA-ID
    Derek W Abbott; Fiscal Year: 2012
    ..recently been found to be mutated in an Immunodeficiency Disorder called called Anhidrotic (hypohydrotic) Ectodermal Dysplasia with Immunodeficiency (EDA-ID)...
  7. MOLECULAR AND GENETIC ANALYSIS OF THE EEC SYNDROME
    Bernard Weissman; Fiscal Year: 2000
    ..One form, EEC, involves individuals who show evidence of ectodermal dysplasia, ectrodactyly and cleft palate...
  8. DOWNLESS GENE AND ITS ROLE IN INDUCTIVE SIGNALING
    PAUL OVERBEEK; Fiscal Year: 2002
    ..People with the genetic disorder autosomal anhidrotic ectodermal dysplasia (EDA) exhibit defects that are essentially identical to the downless phenotype...
  9. Eda/Edar Regulation of Embryonic SMG Development
    Tina Jaskoll; Fiscal Year: 2007
    Hypohidrotic (anhidrotic) ectodermal dysplasia (HED), the most common of the approximately 150 described ectodermal dysplasias, is a disorder characterized by abnormal development of hair, teeth, sweat glands and salivary glands...
  10. Genes in X-linked Ectodermal Dysplasia Receptor
    PREET CHAUDHARY; Fiscal Year: 2006
    ..In the long-term these studies may lead to better diagnosis and treatment of ectodermal dysplasias and craniofacial abnormalities. ..
  11. FETAL SKIN BIOLOGY
    Lynne Smith; Fiscal Year: 1993
    ..Skin from patients affected with X-linked hypohidrotic ectodermal dysplasia, a genetic disorder in which development and postnatal abnormalities of appendage formation are the ..
  12. GENETIC STUDIES OF MARGARITA ISLAND ECTODERMAL DYSPLASIA
    Richard Spritz; Fiscal Year: 2002
    ..abstract): This is a proposal to carry out positional cloning of the gene for Margarita Island ectodermal dysplasia (ED4), a rare autosomal recessive disorder which is quite common (1/200) on Isla Margarita in the Caribbean,..
  13. P63 Network in Pathogenesis of Ectodermal Dysplasia
    Alexey Fomenkov; Fiscal Year: 2006
    ..dysplasia); (2) to study the functional effect of p63/ABBP1/SCAF4 complexes on FGFR-2 splicing in ectodermal dysplasia; (3) to evaluate the effect of p63/ABBP1/SCAF4 complexes on gene target expression in keratinocytes and ..
  14. Genetic analysis of congenital diaphragmatic hernia
    Anne Slavotinek; Fiscal Year: 2006
    ..abstract_text> ..
  15. Interactions of herpes simplex virus with nectin-1 at cell junctions
    Claude Krummenacher; Fiscal Year: 2008
    ..By identifying new requirements for virus entry in the host, this study will provide targets for novel therapeutic approaches to interfere with this process. [unreadable] [unreadable] [unreadable]..
  16. Phenotype and Gene Expression in Odontogenic Tumors
    JOHN T WRIGHT; Fiscal Year: 2010
    ..Gene data will be placed on our web site in a timely fashion for data sharing. These studies will provide the first detailed mutational and gene profile studies of human odontogenic tumors. ..
  17. Phase Ib trial of TD101 siRNA for pachyonychia congenita (IND 77,504, 12-03-07)
    Sancy Leachman; Fiscal Year: 2009
    ....
  18. International Conference on Ectodermal Dysplasias Classification
    Carlos Salinas; Fiscal Year: 2008
    ..The conference proposal aims to analyze, discuss present classifications of ectodermal dysplasia and to generate consensus to develop a modern classification considering the recent advances in molecular ..
  19. Role of Plakophilin-1 in HNSCC
    James Wahl; Fiscal Year: 2009
    ..Defining the nuclear function of plakophilin-1 will lay the ground work for identifying new prognostic markers for HNSCC and also potential targets for novel therapeutic strategies for treating the disease. ..
  20. CONNEXINS AND THEIR ROLE IN EPIDERMAL DIFFERENTIATION
    Gabriele Richard; Fiscal Year: 2004
    ..We expect that these approaches provide critical information on the patho-mechanism of connexin defects in skin. ..
  21. NOS2-INTERACTING PROTEINS IN NOS2 REGULATIONS
    Edward Ratovitski; Fiscal Year: 2004
    ..abstract_text> ..
  22. CLINICAL AND GENETIC STUDIES OF NETHERTON SYNDROME
    Gabriele Richard; Fiscal Year: 2002
    ....
  23. 6th Pan Pacific Connective Tissue Societies Symposium
    Lynn Sakai; Fiscal Year: 2005
    ..In addition, there will be opportunities for informal discussions and activities to promote interactions between participants. ..
  24. Transcriptional profiling in childhood diseases
    William Craigen; Fiscal Year: 2006
    ..These results will help in counseling, the development of potential therapies, and assessing long-term outcomes. ..
  25. PATHOGENESIS OF MARFAN SYNDROME AND RELATED DISORDERS
    Lynn Sakai; Fiscal Year: 2004
    ..In addition, selected mutant constructs will be tested for protease susceptibility in comparison to analogous wildtype constructs. ..
  26. DERMATOREMEDIATION OF IRON OVERLOAD
    Leonard M Milstone; Fiscal Year: 2010
    ..Since iron is increasingly suspected of having a role in inflammatory and neoplastic diseases of skin, this new information should assist in devising preventative and treatment measures for those types of diseases. ..
  27. THE GENOTYPE AND PHENOTYPE AMELOGENESIS IMPERFECTA
    John Wright; Fiscal Year: 2004
    ..Knowledge of the molecular determinants of morphogenesis and tissue formation will allow novel and more effective treatments and more accurate diagnosis of the diverse hereditary conditions affecting teeth. ..
  28. MODIFYING GENE DETERMINANTS OF TOOTH AND BONE PHENOTYPES
    John Wright; Fiscal Year: 2007
    ..abstract_text> ..
  29. 1st Costello Syndrome Symposium
    KATHERINE RAUEN; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..