focal dermal hypoplasia

Summary

Summary: A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. It is found exclusively in females and transmitted as an X-linked dominant trait.

Top Publications

  1. Aoyama M, Sawada H, Shintani Y, Isomura I, Morita A. Case of unilateral focal dermal hypoplasia (Goltz syndrome). J Dermatol. 2008;35:33-5 pubmed publisher
    b>Focal dermal hypoplasia (FDH) is a rare multisystem condition in which developmental defects of the skin are associated with ocular, dental and skeletal abnormalities. Herein, we report an 8-year-old girl with FDH...
  2. Tenkir A, Teshome S. Goltz syndrome (focal dermal hypoplasia) with unilateral ocular, cutaneous and skeletal features: case report. BMC Ophthalmol. 2010;10:28 pubmed publisher
    Goltz syndrome or focal dermal hypoplasia (FDH) is an uncommon multisystem disorder. Herein, we report a typical case of FDH with unilateral ocular, cutaneous and skeletal features.
  3. Dias C, Basto J, Pinho O, Barbêdo C, Martins M, Bornholdt D, et al. A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth. Fetal Pediatr Pathol. 2010;29:305-13 pubmed publisher
    b>Focal dermal hypoplasia (FDH, Goltz syndrome), is an X-linked dominant mesoectodermal developmental disorder, involving skin, skeleton, eyes, teeth, and other organs...
  4. Lasocki A, Stark Z, Orchard D. A case of mosaic Goltz syndrome (focal dermal hypoplasia) in a male patient. Australas J Dermatol. 2011;52:48-51 pubmed publisher
    We present the case of a boy with a clinical diagnosis of Goltz (focal dermal hypoplasia) syndrome. This is a rare genodermatosis characterized by widespread dysplasia of mesodermal and ectodermal tissues...
  5. Fryssira H, Papathanassiou M, Barbounaki J, Orfanou I, Lagona E, Paikos P. A male with polysyndactyly, linear skin defects and sclerocornea. Goltz syndrome versus MIDAS. Clin Dysmorphol. 2002;11:277-81 pubmed
    b>Focal dermal hypoplasia (FDH) or Goltz syndrome is a rare clinical syndrome presenting with cutaneous, skeletal, dental, ocular, central nervous system and soft-tissue defects...
  6. Froyen G, Govaerts K, Van Esch H, Verbeeck J, Tuomi M, Heikkila H, et al. Novel PORCN mutations in focal dermal hypoplasia. Clin Genet. 2009;76:535-43 pubmed publisher
    b>Focal dermal hypoplasia (FDH), Goltz or Goltz-Gorlin syndrome, is an X-linked dominant multisystem disorder characterized primarily by involvement of the skin, skeletal system and eyes...
  7. Clements S, Mellerio J, Holden S, McCauley J, McGrath J. PORCN gene mutations and the protean nature of focal dermal hypoplasia. Br J Dermatol. 2009;160:1103-9 pubmed publisher
    b>Focal dermal hypoplasia (FDH) is an X-linked dominant disorder featuring developmental abnormalities of ectodermal and mesodermal tissues. Pathogenic mutations in the PORCN gene (locus Xp11...
  8. Marcus D, Shore J, Albert D. Anophthalmia in the focal dermal hypoplasia syndrome. Arch Ophthalmol. 1990;108:96-100 pubmed
    We examined an orbital exenteration specimen from an anophthalmic patient with focal dermal hypoplasia. Eyelid angiofibromas were evident and immunoperoxidase studies for human papilloma virus were negative...
  9. Gorski J. Father-to-daughter transmission of focal dermal hypoplasia associated with nonrandom X-inactivation: support for X-linked inheritance and paternal X chromosome mosaicism. Am J Med Genet. 1991;40:332-7 pubmed
    b>Focal dermal hypoplasia (FDH) is a rare syndrome of severe developmental anomalies of the tissues and organs derived from ectoderm and mesoderm...

More Information

Publications83

  1. Boothroyd A, Hall C. The radiological features of Goltz syndrome: focal dermal hypoplasia. A report of two cases. Skeletal Radiol. 1988;17:505-8 pubmed
    Two female infants with Goltz syndrome (focal dermal hypoplasia) were recently investigated in the Department of Radiology, The Hospital for Sick Children, Great Ormond Street for severe feeding problems and failure to thrive...
  2. Harmsen M, Azzarello Burri S, García González M, Gillessen Kaesbach G, Meinecke P, Müller D, et al. Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap. Eur J Hum Genet. 2009;17:1207-15 pubmed publisher
    b>Focal dermal hypoplasia (FDH) is an X-linked developmental disorder with male lethality characterized by patchy dermal hypoplasia, skeletal and dental malformations, and microphthalmia or anophthalmia...
  3. Mianda S, Delmaestro D, Bertoli R, Marinho T, Lucas E. Focal dermal hypoplasia with exuberant fat herniations and skeletal deformities. Pediatr Dermatol. 2005;22:420-3 pubmed
    b>Focal dermal hypoplasia or Goltz syndrome is a rare congenital and mesoectodermal dysplasia with multisystemic involvement...
  4. Sacoor M, Motswaledi M. Three cases of focal dermal hypoplasia (Goltz syndrome). Clin Exp Dermatol. 2005;30:35-7 pubmed
    b>Focal dermal hypoplasia or Goltz syndrome is a rare genodermatosis, characterized by multiple abnormalities of ectodermal and mesodermal origin...
  5. Grzeschik K, Bornholdt D, Oeffner F, König A, del Carmen Boente M, Enders H, et al. Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. Nat Genet. 2007;39:833-5 pubmed
    b>Focal dermal hypoplasia (FDH) is an X-linked dominant multisystem birth defect affecting tissues of ectodermal and mesodermal origin...
  6. Ogunbiyi A, Adewole I, Ogunleye O, Ogunbiyi J, Ogunseinde O, Baiyeroju Agbeja A. Focal dermal hypoplasia: a case report and review of literature. West Afr J Med. 2003;22:346-9 pubmed
    ..A diagnosis of Focal dermal hypoplasia was made. The huge vulvar wart and the warts on the tonsils were excised...
  7. Lombardi M, Bulk S, Celli J, Lampe A, Gabbett M, Ousager L, et al. Mutation update for the PORCN gene. Hum Mutat. 2011;32:723-8 pubmed publisher
  8. Smigiel R, Jakubiak A, Lombardi M, Jaworski W, Slezak R, Patkowski D, et al. Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature. Am J Med Genet A. 2011;155A:1102-5 pubmed publisher
  9. Leoyklang P, Suphapeetiporn K, Wananukul S, Shotelersuk V. Three novel mutations in the PORCN gene underlying focal dermal hypoplasia. Clin Genet. 2008;73:373-9 pubmed publisher
    b>Focal dermal hypoplasia (FDH) is an X-linked dominant disorder characterized by patchy dermal hypoplasia with digital, ocular and dental abnormalities. Very recently, mutations in the PORCN gene were demonstrated to cause FDH...
  10. Clements S, Wessagowit V, Lai Cheong J, Arita K, McGrath J. Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene. J Dermatol Sci. 2008;49:39-42 pubmed
    b>Focal dermal hypoplasia (FDH) (OMIM 305600) is an X-linked dominant disorder of ecto-mesodermal development...
  11. Maymí M, Martín García R. Focal dermal hypoplasia with unusual cutaneous features. Pediatr Dermatol. 2007;24:387-90 pubmed
    b>Focal dermal hypoplasia (Goltz syndrome) is a rare genetic condition characterized by numerous malformations in different organ systems derived from the ectoderm and mesoderm...
  12. Hancock S, Pryde P, Fong C, Brazy J, Stewart K, Favour A, et al. Probable identity of Goltz syndrome and Van Allen-Myhre syndrome: evidence from phenotypic evolution. Am J Med Genet. 2002;110:370-9 pubmed
    ..Based on the evolution of clinical features in this infant, we suggest that our case, as well as that reported by Van Allen and Myhre, is an example of unusually severe Goltz syndrome...
  13. Maas S, Lombardi M, van Essen A, Wakeling E, Castle B, Temple I, et al. Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome. J Med Genet. 2009;46:716-20 pubmed publisher
    Goltz-Gorlin syndrome or focal dermal hypoplasia is a highly variable, X-linked dominant syndrome with abnormalities of ectodermal and mesodermal origin...
  14. Bornholdt D, Oeffner F, König A, Happle R, Alanay Y, Ascherman J, et al. PORCN mutations in focal dermal hypoplasia: coping with lethality. Hum Mutat. 2009;30:E618-28 pubmed publisher
    The X-linked dominant trait focal dermal hypoplasia (FDH, Goltz syndrome) is a developmental defect with focal distribution of affected tissues due to a block of Wnt signal transmission from cells carrying a detrimental PORCN mutation on ..
  15. Barrott J, Cash G, Smith A, Barrow J, Murtaugh L. Deletion of mouse Porcn blocks Wnt ligand secretion and reveals an ectodermal etiology of human focal dermal hypoplasia/Goltz syndrome. Proc Natl Acad Sci U S A. 2011;108:12752-7 pubmed publisher
    ..sporadic mutations in its unique human ortholog, PORCN, cause a pleiotropic X-linked dominant disorder, focal dermal hypoplasia (FDH, also known as Goltz syndrome)...
  16. Happle R, Daniels O, Koopman R. MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome. Am J Med Genet. 1993;47:710-3 pubmed
    ..3. This new X-linked male-lethal trait should be distinguished from focal dermal hypoplasia that will be found to map elsewhere on the X-chromosome.
  17. Liu W, Shaver T, Balasa A, Ljungberg M, Wang X, Wen S, et al. Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome). PLoS ONE. 2012;7:e32331 pubmed publisher
    b>Focal Dermal Hypoplasia (FDH) is a genetic disorder characterized by developmental defects in skin, skeleton and ectodermal appendages. FDH is caused by dominant loss-of-function mutations in X-linked PORCN...
  18. Wang X, Reid Sutton V, Omar Peraza Llanes J, Yu Z, Rosetta R, Kou Y, et al. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet. 2007;39:836-8 pubmed
    b>Focal dermal hypoplasia is an X-linked dominant disorder characterized by patchy hypoplastic skin and digital, ocular and dental malformations. We used array comparative genomic hybridization to identify a 219-kb deletion in Xp11...
  19. Riyaz N, Riyaz A, Chandran R, Rakesh S. Focal dermal hypoplasia (Goltz syndrome). Indian J Dermatol Venereol Leprol. 2005;71:279-81 pubmed
    ..The unusual features noted were absence of the left first rib and aortic regurgitation...
  20. Rhee K, Baek R, Ahn K. Airway management in a patient with focal dermal hypoplasia. Anesth Analg. 2006;103:1342 pubmed
  21. Patel J, Maher E, Charles A. Focal dermal hypoplasia (Goltz syndrome) presenting as a severe fetal malformation syndrome. Clin Dysmorphol. 1997;6:267-72 pubmed
    ..Differential diagnosis is discussed and it is suggested that this case represents an unusually severe form of Goltz syndrome...
  22. Fernandes P, Wen S, Sutton V, Ward P, Van den Veyver I, Fang P. PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing. Genet Test Mol Biomarkers. 2010;14:709-13 pubmed publisher
    b>Focal dermal hypoplasia (FDH) is an X-linked dominant disorder caused by mutations in the gene PORCN, which encodes a protein required for the secretion and signaling of Wnt proteins...
  23. Howell J, Freeman R. Cutaneous defects of focal dermal hypoplasia: an ectomesodermal dysplasia syndrome. J Cutan Pathol. 1989;16:237-58 pubmed
    The 5 major cutaneous defects of development found in focal dermal hypoplasia, an ectomesodermal dysplasia syndrome, are: aplasia cutis congenita, multiform atrophy-like areas, striate, papillomatous, and lipomatous lesions of skin...
  24. Irvine A, Stewart F, Bingham E, Nevin N, Boston V. Focal dermal hypoplasia (Goltz syndrome) associated with intestinal malrotation and mediastinal dextroposition. Am J Med Genet. 1996;62:213-5 pubmed
    b>Focal dermal hypoplasia (Goltz syndrome) is a rare syndrome comprising developmental anomalies of tissues and organs of mesoectodermal derivation...
  25. Lueder G, Steiner R. Corneal abnormalities in a mother and daughter with focal dermal hypoplasia (Goltz-Gorlin syndrome). Am J Ophthalmol. 1995;120:256-8 pubmed
    b>Focal dermal hypoplasia is an inherited dermatologic disorder commonly associated with skeletal and dental abnormalities...
  26. Wechsler M, Papa C, Haberman F, Marion R. Variable expression in focal dermal hypoplasia. An example of differential X-chromosome inactivation. Am J Dis Child. 1988;142:297-300 pubmed
    We encountered three women from three generations of the same family with features of focal dermal hypoplasia (FDH)...
  27. Houge G, Oeffner F, Grzeschik K. An Xp11.23 deletion containing PORCN may also cause angioma serpiginosum, a cosmetic skin disease associated with extreme skewing of X-inactivation. Eur J Hum Genet. 2008;16:1027-8 pubmed publisher
  28. Cox N, Paterson W. Osteochondroma of humerus in focal dermal hypoplasia (Goltz) syndrome. Clin Exp Dermatol. 1991;16:283-4 pubmed
    b>Focal dermal hypoplasia (Goltz) syndrome was diagnosed in a 26-year-old female subject and her 5-year-old daughter...
  29. McNamara T, Trotman C, Hahessy A, Kavanagh P. Focal dermal hypoplasia (Goltz-Gorlin) syndrome with taurodontism. Spec Care Dentist. 1996;16:26-8 pubmed
    This paper is a case report of a 10-year-old girl with focal dermal hypoplasia (FDH) who presented for dental care. She displayed many of the well-documented oral features associated with this syndrome...
  30. al Ghamdi K, Crawford P. Focal dermal hypoplasia -- oral and dental findings. Int J Paediatr Dent. 2003;13:121-6 pubmed
    This report describes the case of an 8-year-old girl with focal dermal hypoplasia. As well as deformities affecting her hands and feet she had marked facial asymmetry, one diminutive eye and coloboma affecting the other...
  31. Terashi H, Kurata S, Hashimoto H, Ishii Y, Takasaki S, Sonoda T, et al. A case of Goltz syndrome presenting as congenital incomplete alopecia. J Dermatol. 1994;21:122-4 pubmed
  32. Asciolla J, Miele M, Hendrickson R, Resh M. An in vitro fatty acylation assay reveals a mechanism for Wnt recognition by the acyltransferase Porcupine. J Biol Chem. 2017;292:13507-13513 pubmed publisher
    ..These findings illustrate the unique enzyme-substrate selectivity exhibited by members of the membrane-bound O-acyl transferase family. ..
  33. Leboucq N, Montoya y Mártínez P, Montoya Vigo F, Catan P. Aplasia cutis congenita of the scalp with large underlying skull defect: a case report. Neuroradiology. 1994;36:480-2 pubmed
    ..A three-dimensional CT study is useful for showing the extent of the skull defect and the deformity of the craniofacial complex and the changes in the bone after treatment. ..
  34. Patrizi A, Tabanelli M, Grzeschik K, Misciali C, Neri I, Happle R. Multiple basal cell carcinomas in a 38-year-old woman with Goltz syndrome. Dermatology. 2012;224:97-100 pubmed publisher
    b>Focal dermal hypoplasia (FDH) or Goltz syndrome is a rare genetic multisystem disorder characterized by hypoplasia of ectodermally and mesodermally derived tissues...
  35. Sato M, Ishikawa O, Yokoyama Y, Kondo A, Miyachi Y. Focal dermal hypoplasia (Goltz syndrome): a decreased accumulation of hyaluronic acid in three-dimensional culture. Acta Derm Venereol. 1996;76:365-7 pubmed
    We report a 28-year-old female with focal dermal hypoplasia, (Goltz syndrome). We compared the growth kinetics and the production of type I collagen and glycosaminoglycans by fibroblasts from affected and unaffected skin...
  36. Pasman E, Heifert T, Nylund C. Esophageal squamous papillomas with focal dermal hypoplasia and eosinophilic esophagitis. World J Gastroenterol. 2017;23:2246-2250 pubmed publisher
    b>Focal dermal hypoplasia (FDH) is a rare disorder of the mesodermal and ectodermal tissues. Here we present an eight-year-old female known to have FDH who presents with poor weight gain and dysphagia...
  37. Seven M, Suyugül Z, Yuksel A, Geckinli B, Hacihanefioglu S, Cenani A. A family presenting Goltz syndrome (focal dermal hypoplasia) in three generations. Turk J Pediatr. 1998;40:593-601 pubmed
    ..The cases have features of focal dermal hypoplasia (Goltz syndrome)...
  38. Liu J, Hsu P, Vanderwielen B, Teng J. Treatment of recalcitrant excessive granulation tissue with photodynamic therapy in an eight-year-old patient with focal dermal hypoplasia syndrome. Pediatr Dermatol. 2012;29:324-6 pubmed publisher
    We report a pediatric patient with focal dermal hypoplasia syndrome who developed painful excessive granulation tissue refractory to traditional medical and surgical therapies...
  39. Happle R, Steijlen P, Theile U, Karitzky D, Tinschert S, Albrecht Nebe H, et al. Patchy dermal hypoplasia as a characteristic feature of Proteus syndrome. Arch Dermatol. 1997;133:77-80 pubmed
    ..This paradoxical phenomenon has so far been underestimated, and the presence of circumscribed lesions of dermal hypoplasia has been entirely ignored...
  40. Bick D, Balkite E, Baumgarten A, Hobbins J, Mahoney M. The association of congenital skin disorders with acetylcholinesterase in amniotic fluid. Prenat Diagn. 1987;7:543-9 pubmed
  41. Garavelli L, Simonte G, Rosato S, Wischmeijer A, Albertini E, Guareschi E, et al. Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly. Am J Med Genet A. 2013;161A:1750-4 pubmed publisher
    b>Focal dermal hypoplasia (FDH; Goltz-Gorlin syndrome; OMIM 305600) is a disorder that features involvement of the skin, skeletal system, and eyes. It is caused by loss-of-function mutations in the PORCN gene...
  42. Shao L, Mardis N, Nopper A, Jarka D, Singh V. Giant cell tumor of bone in a child with Goltz syndrome. Pediatr Dev Pathol. 2013;16:308-11 pubmed publisher
    ..Our case of giant cell tumor in a 5-year-old girl with Goltz syndrome suggests that this syndrome provides a unique situation wherein the practitioner should consider giant cell tumor of bone, even in a pediatric setting. ..
  43. Krakowski A, Ozog D, Ginsberg D, Cheng C, Chaffins M. Laser-Induced Neocollagenesis in Focal Dermal Hypoplasia Associated With Goltz Syndrome in a Girl. JAMA Dermatol. 2017;: pubmed publisher
    Current models of Goltz syndrome cannot estimate the overall neocollagenesis and marked shift in collagen types after ablative fractional laser resurfacing (AFR) within treated areas of focal dermal hypoplasia (FDH).
  44. Fisher R, Pairaudeau P, Innes J, Bartlett R, Crow Y. Focal dermal hypoplasia with subependymal heterotopia and hypoplastic corpus callosum. Clin Dysmorphol. 2007;16:59-61 pubmed
    ..The features described are similar to those found in conditions including focal dermal hypoplasia, microphthalmia with linear skin defects, oculocerebrocutaneous syndrome and terminal osseous dysplasia ..
  45. Jen M, Nallasamy S. Ocular manifestations of genetic skin disorders. Clin Dermatol. 2016;34:242-75 pubmed publisher
    ..The genodermatoses with ocular manifestations will be reviewed, but neurocutaneous, syndromes, genetic pigmentary disorders, and genetic metabolic diseases are not included because they are covered elsewhere in this issue. ..
  46. Cervantes Barragán D, Villarroel C, Medrano Hernández A, Duran McKinster C, Bosch Canto V, Del Castillo V, et al. Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification. J Med Genet. 2011;48:716-20 pubmed publisher
    ..FFDD type III heterozygotes with TWIST2 mutations may have syndromic manifestations. Review of previous FFDD patients resulted in reclassification of the subtypes. ..
  47. Lenz W, Zygulska M, Horst J. FFU complex: an analysis of 491 cases. Hum Genet. 1993;91:347-56 pubmed
    ..Some arguments in favour of early somatic mutation as a cause are discussed. ..
  48. Rodini E, Machado Paula L, Vendramini S, Guion Almeida M. Atypical facial clefting in a patient with Goltz syndrome. Am J Med Genet A. 2006;140:1616 pubmed
  49. Giampietro P, Babu D, Koehn M, Jacobson D, Mueller Schrader K, Moretti C, et al. New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria. Am J Med Genet A. 2004;124A:202-8 pubmed
    Regional skin hypoplasia has been described in several genetic syndromes, including focal dermal hypoplasia (FDH), microphthalmia with linear skin defects (MLS), oculocerebrocutaneous syndrome (OCCS), and terminal osseous dysplasia and ..
  50. Franco H, Casasnovas J, León R, Friesel R, Ge Y, Desnick R, et al. Nonsense mutations of the bHLH transcription factor TWIST2 found in Setleis Syndrome patients cause dysregulation of periostin. Int J Biochem Cell Biol. 2011;43:1523-31 pubmed publisher
    ..Improper regulation of periostin by the mutant form of TWIST2 could help explain some of the soft tissue abnormalities seen in these patients therefore providing a genotype-phenotype relationship for Setleis Syndrome...
  51. Lee I, Cha M, Kim S, Bang D. Electronmicroscopic observation of the basement membrane zone in focal dermal hypoplasia. Pediatr Dermatol. 1996;13:5-9 pubmed
    ..the upper and midportions of the dermis were observed, conforming to a typical histopathologic picture of focal dermal hypoplasia. Electron microscopic examination of the atrophic site showed loose collagen bundles, collagen fibers ..
  52. Dieng Sarr F, Sembene M, Woto Gaye G, Gaye F. [Changes in oral mucosa of the partially edentulous who wear removable partial dentures ]. Odontostomatol Trop. 2006;29:5-11 pubmed
    ..to confirm or infirm structural modification of oral mycosis at the summit after fifteen days of wearing removable resin partial dentures...
  53. Coughlin C, Dunbar S, Bayliss S, Berk D. Focal preauricular dermal dysplasia in a newborn. Pediatr Dermatol. 2013;30:e259-60 pubmed publisher
    ..We report a case of focal preauricular dermal dysplasia in an 18-day-old healthy girl. We discuss the classification of focal preauricular dermal dysplasia within the spectrum of focal facial dermal dysplasia and aplasia cutis congenita. ..
  54. De Wilde R, Hesseling M, Petrik R. [Aplasia cutis congenita]. Z Geburtshilfe Perinatol. 1988;192:282-3 pubmed
    ..Genetic constitution is a predisposing factor; the disease has a variable expressivity. The lesions show spontaneous healing after several months; corrective surgery is seldom indicated. The prognosis is good...
  55. Magid M, Prendiville J, Esterly N. Focal facial dermal dysplasia: bitemporal lesions resembling aplasia cutis congenita. J Am Acad Dermatol. 1988;18:1203-7 pubmed
    ..An isolated case of a 4 1/2-month-old infant with typical bitemporal markings and otherwise normal facies is described...
  56. Maalouf D, Megarbane H, Chouery E, Nasr J, Badens C, Lacoste C, et al. A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia. Arch Dermatol. 2012;148:85-8 pubmed publisher
    b>Focal dermal hypoplasia (also known as Goltz syndrome) is an X-linked dominant syndrome characterized by patchy hypoplastic skin with soft-tissue, skeletal, dental, and ocular defects that are secondary to mutations in the PORCN gene...
  57. Sule R, Dhumawat D, Gharpuray M. Focal dermal hypoplasia. Cutis. 1994;53:309-12 pubmed
    b>Focal dermal hypoplasia is a rare developmental disorder affecting skin, eyes, teeth, and musculoskeletal system...
  58. Ueki K, Mimura T, Nakamoto T, Sasaki T, Aizawa S, Hirai H, et al. Integrin-mediated signal transduction in cells lacking focal adhesion kinase p125FAK. FEBS Lett. 1998;432:197-201 pubmed
    ..Moreover, integrin stimulation induces tyrosine phosphorylation of CAKbeta in FAK-/- cells. Thus, our results suggest that CAKbeta contributes to integrin-mediated signal transduction in place of FAK in FAK-deficient cells...
  59. Liu Y, Zhou X, Deng H, He Y, Zhu H, Zhang X. [A novel PORCN gene mutation in a patient with focal dermal hypoplasia]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010;27:675-7 pubmed publisher
    To detect the mutation of PORCN gene in a patient with focal dermal hypoplasia and study the genotype-phenotype correlation.
  60. Alberth M, Torok J, Nemes J. [Goltz syndrome - a case report]. Fogorv Sz. 2001;94:59-62 pubmed
    The Goltz (Goltz-Gorlin) syndrome or focal dermal hypoplasia is a relatively rare disease. Its clinical manifestation shows a great variety. The syndrome characterized by anomalies of cutaneous, osseous, dental and ocular structures...
  61. Kanitakis J, Souillet A, Butnaru C, Claudy A. Melanocyte stimulation in focal dermal hypoplasia with unusual pigmented skin lesions: a histologic and immunohistochemical study. Pediatr Dermatol. 2003;20:249-53 pubmed
    b>Focal dermal hypoplasia (FDH) or Goltz syndrome is a rare genodermatosis transmitted in a dominant, X-linked mode...
  62. Van den Veyver I. Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: are they related X-linked dominant male-lethal disorders?. Cytogenet Genome Res. 2002;99:289-96 pubmed
    ..similarities among different conditions are illustrated through discussion of three X-linked developmental disorders: microphthalmia with linear skin defects (MLS) syndrome, Aicardi syndrome, and Goltz syndrome (focal dermal hypoplasia).
  63. D Alise M, Timmons C, Swift D. Focal dermal hypoplasia (Goltz syndrome) with vertebral solid aneurysmal bone cyst variant. A case report. Pediatr Neurosurg. 1996;24:151-4 pubmed
    b>Focal dermal hypoplasia or Goltz syndrome is a rare clinical entity, usually presenting in early childhood as a mix of ectodermal and mesodermal anomalies...
  64. Breuning M, Oranje A, Langemeijer R, Hovius S, Diepstraten A, Den Hollander J, et al. Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations. Am J Med Genet. 2000;94:91-101 pubmed
    ..the case of a mother with recurrent digital fibroma at a young age who gave birth to a daughter with focal dermal hypoplasia, coloboma of the iris and eyelids, anal atresia, and extensive limb malformations...
  65. Ishii N, Baba N, Kanaizuka I, Nakajima H, Ono S, Amemiya F. Histopathological study of focal dermal hypoplasia (Goltz syndrome). Clin Exp Dermatol. 1992;17:24-6 pubmed
    We report a case of focal dermal hypoplasia, or Golz syndrome in a 13-year-old girl. The patient presented with a variety of cutaneous defects, including atrophy-like depressions, striations, a verrucous papilloma, and lipomas...
  66. Dixit S, Acharya S, Dixit P. Multiple odontogenic keratocysts associated with Gorlin-Goltz syndrome. Kathmandu Univ Med J (KUMJ). 2009;7:414-8 pubmed
    ..A case of this rare disease seen on a 13 year old female patient is presented here, where multiple odontogenic keratocysts were causing disfigurement of the lower jaw as well as displacement and malocclusion of the lower teeth...
  67. Balmer R, Cameron A, Ades L, Aldred M. Enamel defects and Lyonization in focal dermal hypoplasia. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2004;98:686-91 pubmed
    We report a pattern of enamel hypoplasia in focal dermal hypoplasia similar to that found in females with X-linked amelogenesis imperfecta...
  68. Graul Neumann L, Stieler K, Blume Peytavi U, Tzschach A. Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer-Setleis syndrome). Am J Med Genet A. 2009;149A:746-50 pubmed publisher
    ..Although this family is not large enough to yield significant results in linkage analysis, it may, in combination with other families, contribute to the identification of a gene locus for this intriguing ectodermal disorder...
  69. Suskan E, Kurkcuoglu N, Uluoglu O. Focal dermal hypoplasia (Goltz syndrome) with horseshoe kidney abnormality. Pediatr Dermatol. 1990;7:283-6 pubmed
    A 10-year-old girl had focal dermal hypoplasia (Goltz syndrome). She showed the characteristic skin manifestations, mental and physical underdevelopment, and facial, dental, skeletal, ophthalmologic, and urinary abnormalities...
  70. Mahe A, Couturier J, Mathe C, Lebras F, Bruet A, Fendler J. Minimal focal dermal hypoplasia in a man: a case of father-to-daughter transmission. J Am Acad Dermatol. 1991;25:879-81 pubmed
    b>Focal dermal hypoplasia is a rare genetic disorder characterized by diffuse and specific cutaneous lesions. Multiple visceral abnormalities are frequently associated...
  71. Buchner S, Itin P. Focal dermal hypoplasia syndrome in a male patient. Report of a case and histologic and immunohistochemical studies. Arch Dermatol. 1992;128:1078-82 pubmed
    b>Focal dermal hypoplasia (FDH) is a rare ectomesodermal dysplasia syndrome characterized by cutaneous, skeletal, dental, ocular, and soft-tissue defects...
  72. Pujol R, Casanova J, Perez M, Matias Guiu X, Planagumà M, de Moragas J. Focal dermal hypoplasia (Goltz syndrome): report of two cases with minor cutaneous and extracutaneous manifestations. Pediatr Dermatol. 1992;9:112-6 pubmed
    Two women, ages 33 and 16 years, had focal dermal hypoplasia (Goltz syndrome) with unusual, minimal clinical manifestations...
  73. Baxter A, Shaw M, Warren K. Dental and oral lesions in two patients with focal dermal hypoplasia (Goltz syndrome). Br Dent J. 2000;189:550-3 pubmed
    This report is concerned with the manifestations associated with focal dermal hypoplasia (Goltz syndrome) in two patients. Goltz syndrome is a rare polydysplastic syndrome...
  74. Petrides G, Bhat M, Holder S, Wakeling E. Caudal appendage in focal dermal hypoplasia (Goltz syndrome). Clin Dysmorphol. 2008;17:129-31 pubmed publisher