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. Clements S, Techanukul T, Lai Cheong J, Mee J, South A, Pourreyron C, et al. Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology. Br J Dermatol. 2012;167:134-44 pubmed publisher
    AEC (ankyloblepharon-ectodermal defects-clefting) syndrome is an autosomal dominant ectodermal dysplasia disorder caused by mutations in the transcription factor p63...
  2. Bellomaria A, Barbato G, Melino G, Paci M, Melino S. Recognition of p63 by the E3 ligase ITCH: Effect of an ectodermal dysplasia mutant. Cell Cycle. 2010;9:3730-9 pubmed
    ..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. ..
  3. Van Sickels J, Raybould T, Hicks E. Interdisciplinary management of patients with ectodermal dysplasia. J Oral Implantol. 2010;36:239-45 pubmed publisher
    A 15-year-old girl with ectodermal dysplasia who had been treated previously with minimal orthodontic intervention and removal prosthesis was seen and evaluated at the General Practice Program at the University of Kentucky...
  4. Farooq M, Kurban M, Fujimoto A, Fujikawa H, Abbas O, Nemer G, et al. A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian family. Hum Mutat. 2013;34:578-81 pubmed publisher
    Pure hair and nail ectodermal dysplasia (PHNED) is a rare genetic disorder characterized by hypotrichosis or complete alopecia, as well as nail dystrophy...
  5. Prasun P, Karmarkar S, Agarwal A, Stockton D. Unusual physical features and heat stroke presentation for hypohydrotic ectodermal dysplasia. Clin Dysmorphol. 2012;21:24-6 pubmed publisher
    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)...
  6. Allanson J, Anneren G, Aoki Y, Armour C, Bondeson M, Cave H, et al. Cardio-facio-cutaneous syndrome: does genotype predict phenotype?. Am J Med Genet C Semin Med Genet. 2011;157C:129-35 pubmed publisher
    ..Pulmonary stenosis is the only anomaly that demonstrates a statistically significant genotype–phenotype correlation, being more common in individuals with a BRAF mutation...
  7. Clauss F, Maniere M, Obry F, Waltmann E, Hadj Rabia S, Bodemer C, et al. Dento-craniofacial phenotypes and underlying molecular mechanisms in hypohidrotic ectodermal dysplasia (HED): a review. J Dent Res. 2008;87:1089-99 pubmed
    ..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. ..
  8. Dishop M, Bree A, Hicks M. Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. Am J Med Genet A. 2009;149A:1935-41 pubmed publisher
    ..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.
  9. Allen L, Maestri M. Three-dimensional sonographic findings associated with ectrodactyly ectodermal dysplasia clefting syndrome. J Ultrasound Med. 2008;27:149-54 pubmed
    ..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...

More Information

Publications62

  1. Marinari B, Ballaro C, Koster M, Giustizieri M, Moretti F, Crosti F, et al. IKKalpha is a p63 transcriptional target involved in the pathogenesis of ectodermal dysplasias. J Invest Dermatol. 2009;129:60-9 pubmed publisher
    ..required for IKKalpha expression in differentiating keratinocytes and that mutant p63 proteins expressed in ectodermal dysplasia patients exhibit defects in inducing IKKalpha...
  2. Grecchi F, Pagliani L, Mancini G, Zollino I, Carinci F. Implant treatment in grafted and native bone in patients affected by ectodermal dysplasia. J Craniofac Surg. 2010;21:1776-80 pubmed publisher
    b>Ectodermal dysplasia (ED) is a congenital syndrome characterized chiefly by abnormalities of tissues of ectodermal origin, namely skin, nails, hair, and teeth...
  3. Cluzeau C, Hadj Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, et al. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat. 2011;32:70-2 pubmed publisher
    Hypohidrotic and anhidrotic ectodermal dysplasia (HED/EDA) is a rare genodermatosis characterized by abnormal development of sweat glands, teeth, and hair...
  4. McGrath J, Mellerio J. Ectodermal dysplasia-skin fragility syndrome. Dermatol Clin. 2010;28:125-9 pubmed publisher
    ..The collection of clinical features in individuals with PKP1 mutations has been termed ectodermal dysplasia-skin fragility (ED-SF) syndrome...
  5. Kowalczyk Quintas C, Willen L, Dang A, Sarrasin H, Tardivel A, Hermes K, et al. Generation and characterization of function-blocking anti-ectodysplasin A (EDA) monoclonal antibodies that induce ectodermal dysplasia. J Biol Chem. 2014;289:4273-85 pubmed publisher
    ..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...
  6. Permaul P, Narla A, Hornick J, Pai S. Allogeneic hematopoietic stem cell transplantation for X-linked ectodermal dysplasia and immunodeficiency: case report and review of outcomes. Immunol Res. 2009;44:89-98 pubmed publisher
    Hypomorphic mutations in nuclear factor kappa B essential modulator (NEMO) cause X-linked ectodermal dysplasia with immunodeficiency (X-ED-ID)...
  7. Tanaka A, Lai Cheong J, Café M, Gontijo B, Salomao P, Pereira L, et al. Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families. Br J Dermatol. 2009;160:692-7 pubmed publisher
    ..the molecular basis of two Brazilian patients presenting with clinical features consistent with ectodermal dysplasia-skin fragility syndrome. In patient 1 we identified a homozygous nonsense mutation, p...
  8. Skarzynski H, Podskarbi Fayette R. Treatment of otorhinolaryngological manifestations of three rare genetic syndromes: Branchio-Oculo-Facial (BOF), Ectrodactyly Ectodermal dysplasia Clefting (EEC) and focal dermal hypoplasia (Goltz syndrome). Int J Pediatr Otorhinolaryngol. 2009;73:143-51 pubmed publisher
    Genetic background and characteristic symptoms of three children with rare genetic syndromes: Ectrodactyly Ectodermal dysplasia Clefting (EEC), Branchio-Oculo-Facial (BOF) and focal dermal hypoplasia (Goltz syndrome) were outlined...
  9. Julapalli M, Scher R, Sybert V, Siegfried E, Bree A. Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. Am J Med Genet A. 2009;149A:1900-6 pubmed publisher
    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 ..
  10. Moretti F, Marinari B, Lo Iacono N, Botti E, Giunta A, Spallone G, et al. A regulatory feedback loop involving p63 and IRF6 links the pathogenesis of 2 genetically different human ectodermal dysplasias. J Clin Invest. 2010;120:1570-7 pubmed publisher
    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, ..
  11. Koster M. p63 in skin development and ectodermal dysplasias. J Invest Dermatol. 2010;130:2352-8 pubmed publisher
    ..This review summarizes the current understanding of the role of p63 in normal development and ectodermal dysplasias. ..
  12. Hassed S, Wiley G, Wang S, Lee J, Li S, Xu W, et al. RBPJ mutations identified in two families affected by Adams-Oliver syndrome. Am J Hum Genet. 2012;91:391-5 pubmed publisher
    ..Functional assays confirmed impaired DNA binding of mutated RBPJ, placing it among other notch-pathway proteins altered in human genetic syndromes. ..
  13. Di Iorio E, Kaye S, Ponzin D, Barbaro V, Ferrari S, Böhm E, et al. Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations. Ophthalmology. 2012;119:74-83 pubmed publisher
    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.
  14. Browne G, Cipollone R, Lena A, Serra V, Zhou H, van Bokhoven H, et al. Differential altered stability and transcriptional activity of ?Np63 mutants in distinct ectodermal dysplasias. J Cell Sci. 2011;124:2200-7 pubmed publisher
    ..mutations of p63, a key transcription factor in epithelial development, are causative in a variety of human ectodermal dysplasia disorders...
  15. Temmerman S, Ma C, Zhao Y, Keenan J, Aksentijevich I, Fessler M, et al. Defective nuclear IKK? function in patients with ectodermal dysplasia with immune deficiency. J Clin Invest. 2012;122:315-26 pubmed publisher
    b>Ectodermal dysplasia with immune deficiency (EDI) is an immunological and developmental disorder caused by alterations in the gene encoding NF-?B essential modulator (NEMO; also known as I?B kinase ? subunit [IKK?])...
  16. Bidra A, Martin J, Feldman E. Complete denture prosthodontics in children with ectodermal dysplasia: review of principles and techniques. Compend Contin Educ Dent. 2010;31:426-33; quiz 434, 444 pubmed
    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...
  17. Shaheen R, Faqeih E, Sunker A, Morsy H, Al Sheddi T, Shamseldin H, et al. Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. Am J Hum Genet. 2011;89:328-33 pubmed publisher
  18. Ogino A, Kohama N, Ishikawa S, Tomita K, Nonaka S, Shimizu K, et al. A novel mutation of the bovine EDA gene associated with anhidrotic ectodermal dysplasia in Holstein cattle. Hereditas. 2011;148:46-9 pubmed publisher
    Anhidrotic ectodermal dysplasia (EDA) is a genetic disease characterized by the absence or hypoplasia of hair, teeth and eccrine sweat glands that has been reported in humans, the tabby mouse mutants, cattle and dogs...
  19. BEAUDRY V, Pathak N, Koster M, Attardi L. Differential PERP regulation by TP63 mutants provides insight into AEC pathogenesis. Am J Med Genet A. 2009;149A:1952-7 pubmed publisher
    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, ..
  20. Janssens S, Defoort P, Vandenbroecke C, Scheffer H, Mortier G. Prune belly anomaly on prenatal ultrasound as a presenting feature of ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC). Genet Couns. 2008;19:433-7 pubmed
    ..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. ..
  21. Lypka M, Yarmand D, Burstein J, Tso V, Yamashita D. Dental implant reconstruction in a patient with ectodermal dysplasia using multiple bone grafting techniques. J Oral Maxillofac Surg. 2008;66:1241-4 pubmed publisher
    b>Ectodermal dysplasia is a syndrome in which 2 ectodermally derived structures fail to develop. Patients have a reduced number of teeth, and dental implant reconstruction is the preferred method of replacing teeth...
  22. Yoon G, Rosenberg J, Blaser S, Rauen K. Neurological complications of cardio-facio-cutaneous syndrome. Dev Med Child Neurol. 2007;49:894-9 pubmed
    ..Seizures were present in 15 participants. No specific genotype-phenotype correlation was observed. ..
  23. Ergin H, Semerci C, Karakuş Y, Scheffer H, Ergin S, Koltuksuz U, et al. The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene. Turk J Pediatr. 2010;52:529-33 pubmed
    ..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 ..
  24. Chassaing N, Cluzeau C, Bal E, Guigue P, Vincent M, Viot G, et al. Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases. Br J Dermatol. 2010;162:1044-8 pubmed publisher
    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...
  25. Dentici M, Sarkozy A, Pantaleoni F, Carta C, Lepri F, Ferese R, et al. Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations. Eur J Hum Genet. 2009;17:733-40 pubmed publisher
    ..Conversely, congenital heart defects, particularly mitral valve and septal defects, and ocular anomalies seem to be less frequent among MEK1/MEK2 mutation-positive patients. ..
  26. Clements S, Techanukul T, Coman D, Mellerio J, McGrath J. 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. Br J Dermatol. 2010;162:201-7 pubmed publisher
    Summary EEC (ectrodactyly, ectodermal dysplasia, clefting; OMIM 604292) syndrome is an autosomal dominant developmental disorder...
  27. Castori M, Castiglia D, Passarelli F, Paradisi M. Bazex-Dupré-Christol syndrome: an ectodermal dysplasia with skin appendage neoplasms. Eur J Med Genet. 2009;52:250-5 pubmed publisher
    ..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 ..
  28. Plaisancié J, Bailleul Forestier I, Gaston V, Vaysse F, Lacombe D, Holder Espinasse M, et al. Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia. Am J Med Genet A. 2013;161A:671-8 pubmed publisher
    ..Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of eccrine sweat glands, hair, and teeth...
  29. van der Hout A, Oudesluijs G, Venema A, Verheij J, Mol B, Rump P, et al. Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. Eur J Hum Genet. 2008;16:673-9 pubmed publisher
    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...
  30. vanBokhoven H, Melino G, Candi E, Declercq W. p63, a story of mice and men. J Invest Dermatol. 2011;131:1196-207 pubmed publisher
    ..This review focuses on what mammalian in vivo models and patient studies have taught us in the last 10 years. ..
  31. Clements S, Techanukul T, Holden S, Mellerio J, Dorkins H, Escande F, et al. Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder. Br J Dermatol. 2010;163:624-9 pubmed publisher
    ..known as ankyloblepharon-ectodermal defects-cleft lip/palate (AEC)] syndrome have been designated as distinct ectodermal dysplasia syndromes despite both disorders having overlapping clinical features and the same mutated gene, TP63.
  32. Brancati F, Fortugno P, Bottillo I, Lopez M, Josselin E, Boudghene Stambouli O, et al. Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. Am J Hum Genet. 2010;87:265-73 pubmed publisher
    ..The combination of hair and tooth abnormalities, alopecia, and cutaneous syndactyly is characteristic of ectodermal dysplasia-syndactyly syndrome (EDSS)...
  33. Yap A, Klineberg I. Dental implants in patients with ectodermal dysplasia and tooth agenesis: a critical review of the literature. Int J Prosthodont. 2009;22:268-76 pubmed
    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 ..
  34. Urosevic J, Sauzeau V, Soto Montenegro M, Reig S, Desco M, Wright E, et al. Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome. Proc Natl Acad Sci U S A. 2011;108:5015-20 pubmed publisher
    ..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...
  35. Rinne T, Bolat E, Meijer R, Scheffer H, van Bokhoven H. Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC). Am J Med Genet A. 2009;149A:1948-51 pubmed publisher
    ..defects-cleft lip/palate syndrome (AEC) and Rapp Hodgkin syndrome (RHS), which involves varying degrees of ectodermal dysplasia, orofacial clefting and limb malformations...
  36. Yin W, Ye X, Shi L, Wang Q, Jin H, Wang P, et al. TP63 gene mutations in Chinese P63 syndrome patients. J Dent Res. 2010;89:813-7 pubmed publisher
    ..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...
  37. Mikkola M. Molecular aspects of hypohidrotic ectodermal dysplasia. Am J Med Genet A. 2009;149A:2031-6 pubmed publisher
    Hypohidrotic (anhidrotic) ectodermal dysplasia (HED) is a congenital syndrome characterized by sparse hair, oligodontia, and reduced sweating...
  38. Farrington F, Lausten L. Oral findings in ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome. Am J Med Genet A. 2009;149A:1907-9 pubmed publisher
    ..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...
  39. Melkote S, Dhurat R, Palav A, Jerajani H. Alopecia in congenital hidrotic ectodermal dysplasia responding to treatment with a combination of topical minoxidil and tretinoin. Int J Dermatol. 2009;48:184-5 pubmed publisher
    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...
  40. Sawardekar S, Zaenglein A. Ankyloblepharon-ectodermal dysplasia-clefting syndrome: a novel p63 mutation associated with generalized neonatal erosions. Pediatr Dermatol. 2011;28:313-7 pubmed publisher
    Ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome is a rare disorder characterized by ankyloblepharon (congenital adhesions of the eyelids), ectodermal dysplasia, and orofacial clefts...
  41. Rifai L, Port Lis M, Tabet A, Bailleul Forestier I, Benzacken B, Drunat S, et al. Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome. Am J Med Genet A. 2010;152A:111-7 pubmed publisher
    ..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...
  42. Koster M, Marinari B, Payne A, Kantaputra P, Costanzo A, Roop D. DeltaNp63 knockdown mice: A mouse model for AEC syndrome. Am J Med Genet A. 2009;149A:1942-7 pubmed publisher
    Dominant mutations in TP63 cause ankyloblepharon ectodermal dysplasia and clefting (AEC), an ectodermal dysplasia characterized by skin fragility...
  43. Bohring A, Stamm T, Spaich C, Haase C, Spree K, Hehr U, et al. WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes. Am J Hum Genet. 2009;85:97-105 pubmed publisher
    Odonto-onycho-dermal dysplasia (OODD), a rare autosomal-recessive inherited form of ectodermal dysplasia including severe oligodontia, nail dystrophy, palmoplantar hyperkeratosis, and hyperhidrosis, was recently shown to be caused by a ..
  44. Ferone G, Thomason H, Antonini D, De Rosa L, Hu B, Gemei M, et al. Mutant p63 causes defective expansion of ectodermal progenitor cells and impaired FGF signalling in AEC syndrome. EMBO Mol Med. 2012;4:192-205 pubmed publisher
    ..These findings establish a functional link between FGF signalling and p63 in the expansion of epithelial progenitor cells and provide mechanistic insights into the pathogenesis of AEC syndrome...
  45. Rinne T, Clements S, Lamme E, Duijf P, Bolat E, Meijer R, et al. A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes. Hum Mol Genet. 2008;17:1968-77 pubmed publisher
    ..syndrome mutations, we conclude that these mutations affect only the DeltaNp63alpha isoform and that this disruption is fundamental to explaining the clinical characteristics of these particular ectodermal dysplasia syndromes.
  46. Olivry T, Linder K, Wang P, Bizikova P, Bernstein J, Dunston S, et al. Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs. PLoS ONE. 2012;7:e32072 pubmed publisher
    ..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...
  47. Felipe A, Abazari A, Hammersmith K, Rapuano C, Nagra P, Peiro B. Corneal changes in ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome: case series and literature review. Int Ophthalmol. 2012;32:475-80 pubmed
    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 ..
  48. Lin Z, Chen Q, Shi L, Lee M, Giehl K, Tang Z, et al. Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia. Am J Hum Genet. 2012;91:906-11 pubmed publisher
    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...
  49. Fete M, vanBokhoven H, Clements S, McKeon F, Roop D, Koster M, et al. International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome. Am J Med Genet A. 2009;149A:1885-93 pubmed publisher
    ..defects-cleft lip/palate (AEC) syndrome (Hay-Wells syndrome, MIM #106220) is a rare autosomal dominant ectodermal dysplasia syndrome...
  50. Yavuz I, Kiralp S, Baskan Z. Hypohidrotic ectodermal dysplasia: a case report. Quintessence Int. 2008;39:81-6 pubmed
    ..b>Ectodermal dysplasia has emotional consequences for affected individuals at early ages...
  51. Pai S, Levy O, Jabara H, Glickman J, Stoler Barak L, Sachs J, et al. Allogeneic transplantation successfully corrects immune defects, but not susceptibility to colitis, in a patient with nuclear factor-kappaB essential modulator deficiency. J Allergy Clin Immunol. 2008;122:1113-1118.e1 pubmed publisher
    Boys with X-linked ectodermal dysplasia and immunodeficiency caused by mutations of nuclear factor-kappaB essential modulator have defects in innate and adaptive immunity, and some have colitis...
  52. Nawaz S, Klar J, Wajid M, Aslam M, Tariq M, Schuster J, et al. WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome. Eur J Hum Genet. 2009;17:1600-5 pubmed publisher
    ..392C>T transition in exon 3 of WNT10A, which predicts a p.A131V substitution in a conserved alpha-helix domain. We report here on the first inherited missense mutation in WNT10A with associated ectodermal features. ..
  53. Marneros A, Beck A, Turner E, McMillin M, Edwards M, Field M, et al. Mutations in KCTD1 cause scalp-ear-nipple syndrome. Am J Hum Genet. 2013;92:621-6 pubmed publisher
    ..The identification of KCTD1 mutations in SEN syndrome reveals a role for this BTB-domain-containing transcriptional repressor during ectodermal development...