FaCD Online Syndrome Fact Sheet
Last updated: 12 Mar 2008
Name: Ectodermal Dysplasia
Synonym: incl. EEC syndrome
Mode of Inheritance: XL/ AD/ AR
Tumor featurescervical cancer eccrine syringofibroadenoma melanoma, cutaneous neuroendocrine (Merkel cell) skin carcinoma skin cancer, basal cell skin cancer, squamous cell
Tumor features (possible)hamartoma of the tongue neuroblastoma, extra-adrenal non-Hodgkin lymphoma
Non-tumor featuresalopecia anhidrosis / hypohidrosis dental abnormalities hyperkeratosis hypotrichosis nails, absent nails, dystrophic nails, hypoplastic nails, small, dysplastic
Comment
This entry summarizes a group of at least 154 disorders, which all feature one or more ectodermal defects (of skin, hair, nails & teeth), some feature other defects/malformations as well[1-3]. Some of these disorders have their own entry in the database (Dyskeratosis Congenita, Cronkhide-Canada s., Rothmund Thomson s., Incontinentia Pigmenti, Huriez s., K.I.D. s.). In general ectodermal dysplasia is associated with basal and squamous cell skin cancer, eccrine syringofibroadenoma, malignant melanoma (only in EEC subtype?) and neuroendocrine (Merckel cell) carcinomas[4-7,10,12]. Hanna et al.[8] reported a girl with EEC syndrome and a hamartoma of the tongue. A case with a B-cell lymnphoma was reported as well[9]. Hypohidrotic ectodermal dysplasia was seen in a patient with an intrathoracic neuroblastoma[11]
Associated genes & McKusick (OMIM) numbers are too many to list.
References
[1] Pinheiro M, Freire-Maia N. Ectodermal dysplasias: a clinical classification and a causal review. Am J Med Genet 1994; 53:153-162.
[2] Masse JF, Perusse R. Ectodermal dysplasia. Arch Dis Child 1994; 71:1-2.
[3] Tape MW, Tye E. Ectodermal dysplasia: literature review and a case report. Compendium 1995; 16(5):524-528.
[4] Moya CE, Guarda LA, Dyer GA, Silva EG, Shah S. Neuroendocrine carcinoma of the skin in a young adult. Am J Clin Pathol 1982; 78(5):783-785.
[5] Wick MR, Goellner JR, Scheithauer BW, Thomas JR3, Sanchez NP, Schroeter AL. Primary neuroendocrine carcinomas of the skin (Merkel cell tumors). A clinical, histologic, and ultrastructural study of thirteen cases. Am J Clin Pathol 1983; 79(1):6-13.
[6] Wick MR, Thomas JR3, Scheithauer BW, Jackson IT. Multifocal Merkel's cell tumors associated with a cutaneous dysplasia syndrome. Arch Dermatol 1983; 119:409-414.
[7] Mauro JA, Maslyn R, Stein AA. Squamous-cell carcinoma of nail bed in hereditary ectodermal dysplasia. N Y State J Med 1972; May 1:1065-1066.
[8] Hanna R, Argenyi ZB, Benda JA. Hamartoma of the tongue in an infant with a primary diagnosis of ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome. J Cutan Pathol 1994;173-178.
[9] Akahoshi K, Sakazume S, Kosaki K, Ohashi H, Fukushima Y. EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma. American journal of medical genetics. Part A 2003; 120(3):370-3.
[10] Gregoriou S, Rigopoulos D, Vergou T, Korfitis C, Menegakis G, Kontochristopoulos G. Should we consider hypohidrotic ectodermal dysplasia as a possible risk factor for malignant melanoma?. Journal of cutaneous medicine and surgery 2007 Sep-Oct; 11(5):188-90.
[11] Buoni S, Zannolli R, Macucci F, Molinelli M, Viviano M, Cuccia A, Hayek J, Volterrani L, de Santi MM, Miracco C, Fois A. Hypohidrotic ectodermal dysplasia and intrathoracic neuroblastoma. Pediatric dermatology 2007 May-Jun; 24(3):267-71.
[12] Simpson EL, Styles AR, Cockerell CJ. Eccrine syringofibroadenomatosis associated with hidrotic ectodermal dysplasia. The British journal of dermatology 1998; 138(5):879-84.
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