Witkop syndrome - Altmeyers Encyclopedia

Synonym(s)

Dysplasia of nails with hypodontia; OMIM 189500; TNS; Tooth and nail syndrome

Witkop, 1975

Rare autosomal dominant ectodermal dysplasia close to Clouston syndrome (Hidrotic ectodermal dysplasia) characterized by defects of the finger and toe nails(onychorrhexis, koilonychia) and hypodontia with normal hair structure and sweat gland function.

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Dermatology

Benign, naevoid tumours (hamartomas) of the sweat gland with ductal (eccrine / apocrine) differentiation.

Heterozygous stop mutations in the home domain of the MSX1 gene are described.

Symptomatic.

Chitty LS et al (1996) Hidrotic ectodermal dysplasia of hair, teeth and nails: case reports and review. J Med Genet 33: 707-710
Hudson CD, Witkop CJ Jr (1975) Autosomal dominant hypodontia with nail dysgenesis. Oral Surgery 39: 409-423
Witkop CJ et al (1975) Hypoplastic enamel, onycholysis, and hypohidrosis inherited as an autosomal dominant trait: A review of ectodermal dysplasia syndromes. Oral Surgery 39: 409-421

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