FaCD Online Syndrome Fact Sheet

Last updated: 12 Mar 2008

Name: Ectodermal Dysplasia

Synonym: incl. EEC syndrome

Mode of Inheritance: XL/ AD/ AR

Tumor features

cervical 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 features

alopecia
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.