Ectodermal dysplasias

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 131 C, Issue 1, 2004, Pages 45-51

  Itin, Peter H ^a,b   Fistarol, Susanna K ^a  

^a CANTONAL HOSPITAL AARAU   (Switzerland)

^b UNIVERSITY OF BASEL   (Switzerland)

Author keywords

Classification; Ectodermal dysplasias; Embryology of the skin; Field theory; Gene functions; p3 and keratinization; Patched

Indexed keywords

ALOPECIA; ANHIDROTIC HEREDITARY ECTODERMAL DYSPLASIA; CATARACT; CELL ADHESION; CELL COMMUNICATION; CLINICAL FEATURE; CORNEA DISEASE; DERMATITIS; DISEASE CLASSIFICATION; DRY SKIN; ECTODERMAL DYSPLASIA; ELLIS VAN CREVELD SYNDROME; EMBRYO DEVELOPMENT; ENDODERM; FACE MALFORMATION; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GERM LAYER; HUMAN; HYPERTHERMIA; HYPODONTIA; LACRIMAL DUCT OCCLUSION; MESODERM; MOLECULAR GENETICS; NONHUMAN; PRIORITY JOURNAL; REVIEW; SCANTY HAIR; SIGNAL TRANSDUCTION; SWEAT GLAND DISEASE; TRANSCRIPTION REGULATION; TRICHOTHIODYSTROPHY; X CHROMOSOME LINKED DISORDER;

CELL ADHESION; ECTODERMAL DYSPLASIA; GENE EXPRESSION REGULATION; GENOTYPE; HUMANS; MUTATION; PHENOTYPE;

MAIA;

EID: 7444246026     PISSN: 15524868     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.c.30033     Document Type: Review

References (54)

1. Ando Y, Tanaka T, Horiguchi Y, Ikai K, Tomono H. 1988. Hidrotic ectodermal dysplasia: A clinical and ultrastructural observation. Dermatologica 176:205-211.
2. Bertola DR, Kim CA, Sugayama SMM, Albano LMJ, Utagawa CY, Gonzalez CH. 2000. AEC syndrome and CHAND syndrome: Further evidence of clinical overlapping in the ectodermal dysplasias. Pediatr Dermatol 17:218-221.
3. Bessler M, Wilson DB, Mason PJ. 2004. Dyskeratosis congenita and telomerase. Curr Opin Pediatr 16:23-28.
4. Blecher SR, Kapalanga J, Lalonde D. 1990. Induction of sweat glands by epidermal growth factor in murine X-linked anhidrotic ectodermal dysplasia. Nature 345:542-544.
5. Cambiaghi S, Restano L, Paakkonen K, Caputo R, Kere J. 2000. Clinical findings in mosaic carriers of hypohidrotic ectodermal dysplasia. Arch Dermatol 136:217-224.
6. Clarke A, Phillips DIM, Brown R, Harper PS. 1987. Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. Arch Dis Child 62:989-996.
7. Cole HN, Rauschkolb JE, Toomey J. 1930. Dyskeratosis congenita with pigmentation, dystrophia unguis, and leukokeratosis oris. Arch Dermatol Syph 21:71-95.
8. Crawford PJM, Aldred MJ, Clarke A. 1991. Clinical and radiographic dental findings in X linked hypohidrotic ectodermal dysplasia. J Med Genet 28:181-185.
9. Daniel E, McCurdy EA, Shashi V, McGuirt WFJr. 2002. Ectodermal dysplasia: Otolaryngologic manifestations and management. Laryngoscope 112:962-967.
10. Danz DFG. 1793. Sechste Bemerkung. Von Menschen ohne Haare und Zähne. Arch Geb Frauen Neugeb Kinderkr 4:684.
11. Drachtman RA, Alter BP. 1992. Dyskeratosis congenita: clinical and genetic heterogeneity. Report of a new case and review of the literature. Am J Pediatr Hematol Oncol 14:297-304.
12. Drachtman RA, Alter BP. 1995. Dyskeratosis congenita. Dermatol Clinics 13:33-39.
13. Döffinger R, Smahi A, Bessia C, Geissmann F Feinberg J, Durandy A, Bodemer C, Kenwrick S, Dupuis-Girod S, Blanche S, Wood P, Rabia SH, Headon DJ, Oberbeek PA, Le Deist F, Holland SM, Belani K, Kumararatne DS, Fischer A, Shapiro R, Conley ME, Reimund E, Kalhoff H, Abinum M, Munnich A, Israel A, Courtois G, Casanova JL. 2001. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling. Nat Genet 27:277-285.
14. Fistarol SK, Itin PH. 2002. Nail changes in genodermatoses. Eur J Dermatol 12:119-128.
15. Freire-Maia N, Pinheiro M. 1984. Ectodermal dysplasias: A clinical and genetic study. New York: Alan R. Liss.
16. Freire-Maia N, Pinheiro M. 1988. Ectodermal dysplasias - some recollections and a classification. Birth Defects 24:3-14.
17. Freire-Maia N, Lisboa-Costa T, Pagnan NAB. 2001. Ectodermal dysplasia: How many? Am J Med Genet 104:84.
18. Gilgenkrantz S, Blanchet-Bardon C, Nazzaro V, Mujica P, Alembik Y. 1989. Hypohidrotic ectodermal dysplasia. Clinical study of a family of 30 over three generations. Hum Genet 81:120-122.
19. Happle R, Frosch PJ. 1985. Manifestations of the lines of Blaschko in women heterozygous for X-linked hypohidrotic ectodermal dysplasia. Clin Genet 27:468-471.
20. Ho L, Williams MS, Spritz RA. 1999. A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13. Am J Hum Genet 62:1102-1106.
21. Indelman M, Hamel CP, Bergman R, Nischal KK, Thompson D, Surget MO, Ramon M, Ganthos H, Miller B, Richard G, Lurie R, Leibu R, Russel-Eggitt I, Sprecher E. 2003. Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy. J Invest Dermatol 121:1217-1220.
22. Itin PH, Bühler U, Büchner SA, Guggenheim R. 1993a. Pili trianguli et canaliculi: A distinctive hair shaft defect leading to uncombable hair. Dermatology 187:296-298.
23. Itin PH, Lautenschlager St, Meyer R, Mevorah B, Rufli T. 1993b. Natural history of the Naegeli-Franceschetti-Jadassohn syndrome and further delineation of the symptom complex. J Am Acad Dermatol 28:942-950.
24. Itin PH, Sarasin A, Pittelkow MR. 2001. Trichothiodystrophy: Update on the sulfur-deficient brittle hair syndromes. J Am Acad Dermatol 44:891-920.
25. Kere J, Srivastava AK, Montonen O, Zonana J, Thomas N, Ferguson B, Munoz F, Morgan D, Clarke A, Baybayan P, Chen EY, Ezer S, Saarialho-Kere U, De la Chapelle A, Schlessinger D. 1996. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nature Genet 13:409-416.
26. Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor NM, Furuichi Y. 1999. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nature Genet 22:82-84.
27. Lamartine J. 2003. Towards a new classification of ectodermal dysplasias. Clin Exp Dermatol 28:351-355.
28. Lamartine J, Essenfelder GM, Kibar Z, Lanneluc I, Callouet E, Laoudj D, Lemaitre G, Hand C, Hayflick SJ, Zonana J, Antonarakis S, Radhakrishna U, Kelsell DP, Christianson AL, Pitaval A, Der Kaloustian V, Fraser C, Blanchet-Bardon C, Rouleau GU, Waksman G. 2000. Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nat Genet 26:142-144.
29. Malik TH, Von Stechow D, Bronson RT, Shivdasani RA. 2002. Deletion of the GATA domain of TRPS1 causes an absence of facial hair and provides new insights into the bone disorder in inherited tricho-rhinophalangeal syndromes. Mol Cell Biol 24:8592-8600.
30. McGrath JA, McMillan JR, Shemanko CS, Runswick SK, Leigh IM, Lane EB, Garrod DR, Eady RAJ. 1997. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nature Genet 17:240-244.
31. Mikkola ML, Thesleff I. 2003. Ectodysplasin signaling in development. Cytokine Growth Factor Rev 14:211-224.
32. Monreal AWM, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J. 1999. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nature Genet 22:366-369.
33. Munoz F, Lestringant G, Sybert V, Frydman M, Alswami A, Frossard PM, Jorgenson R, Zonana J. 1997. Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from more common X-linked disorder. Am J Hum Genet 61:94-100.
34. Mégarbané A, Noujeim Z, Fabre M, Der Kaloustian VM. 1998. New form of hidrotic ectodermal dysplasia in a Lebanese family. Am J Med Genet 75:196-199.
35. Pinheiro M, Freire-Maia N. 1994. Ectodermal dysplasias: A clinical classification and a causal review. Am J Med Genet 53:153-162.
36. Priolo M, Lagana C. 2001. Ectodermal dysplasias: A new clinical - genetic classification. J Med Genet 38:579-585.
37. Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynänen M, Jabs EW, Bale SJ, DiGiovanna JJ, Uitto J, Russell L. 2002. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis- deafness syndrome. Am J Hum Genet 70:1341-1348.
38. Rodriguez N, Eliott D, Garcia-Valenzuela E, Baker J. 2002. Bilateral panuveitis in a child with hypohidrotic ectodermal dysplasia. Am J Ophthalmol 134:443-445.
39. Ruiz-Perez VL, Thompson SW, Blair HJ, Espinoza-Valdez C, Lapunzina P, Silva EO, Hamel JL, Gibbs JL, Young ID, Wright MJ, Goodship JA. 2003. Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. Am J Hum Genet 72:728-732.
40. Shindo M, Chaudhary PM. 2004. We present evidence that EDAR also represses Lef-1/ beta-catenin-dependent transcription and this ability is defective in EDAR mutants associated with anhidrotic ectodermal dysplasia. Biochem Biophys Res Commun 315:73-78.
41. Silengo M, Valenzise M, Sorasio L, Ferrero GB. 2002. Hair as a diagnostic tool in dysmorphology. Clin Genet 62:270-272.
42. Smith FJ, Morley SM, McLean WH. 2002. A novel connexin 30 mutation in Clouston syndrome. J Invest Dermatol 118:530-533.
43. Solomon LM, Keuer EJ. 1980. The ectodermal dysplasias. Problems of classification and some newer syndromes. Arch Dermatol 116:1295-1299.
44. South AP. 2004. Plakophilin 1: An important stabilizer of desmosomes. Clin Exp Dermatol 29:161-167.
45. Sprecher E, Bergman R, Richard G, Lurie R, Shalev S, Petronius D, Shalata A, Anbinder Y, Leibu R, Perlman I, Cohen N, Szargel R. 2001. Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin. Nat Genet 29:134-136.
46. Suzuki K, Hu D, Bustos T, Zlotogora J, Richieri-Costa A, Helms JA, Spritz RA. 2000. Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nat Genet 25:427-430.
47. Sybert VP. 1989. Scaling skin in the neonate: A clue to the early diagnosis of X-linked hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine sundrome). J Pediatr 114: 600-602.
48. Thornhill AR, Pickering SJ, Whittock NV, Caller J, Bickerstaff HE, Handyside AH, Eady RA, Braude PR, McGrath JA. 2000. Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin-1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: A case report. Prenat Diagn 20:1055-1062.
49. Traupe H. 1990. Not an ichthyosis at all: The keratitis, ichthyosis-like hyperkeratosis, and deafness (KID) syndrome In: Traupe H, editor. The ichthyoses. A guide to clinical diagnosis, genetic counseling, and therapy. Berlin, Heidelberg, New York: Springer-Verlag. pp 198-202.
50. Vargas GA, Fantino E, George-Nascimento C, Gargus JJ, Haigler HT. 1996. Reduced epidermal growth factor receptor expression in hypohidrotic ectodermal dysplasia and Tabby mice. J Clin Invest 97:2426-2432.
51. Villavicencio EH, Walterhouse DO, Iannaccone PM. 2000. The sonic hedgehog-patched-gli pathway in human development. Am J Hum Genet 67:1047-1054.
52. Wang LL, Levy ML, Lewis RA, Chintagumpala MM, Lev D, Rogers M, Plon SE. 2001. Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Am J Med Genet 102:11-17.
53. Weech AA. 1929. Hereditary ectodermal dysplasia (congenital ectodermal defect). A report of two cases. Am J Dis Child 37:766-790.
54. Zonana J, Elder ME, Schneider LC, Orlow SJ, Moss C, Golabi M, Shapira SK, Farndon PA, Wara DW, Emmal SA, Ferguson BM. 2000. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is alleleic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Am J Hum Genet 67:1555-1562.