Ectodermal dysplasia, hidrotic, autosomal dominant Q82.8

Autosomal dominant inherited mutations of the gap junction protein beta-6gene (GJB6 gene), located on chromosome 13q11-12, leading to expression of defective connexin-30(Cx30).

Great variability, mostly mild to moderate xeroderma, besides nail dystrophies with painfully thickened, streaky, often convexly curved finger and toe nails. Very sparse, thin, short, brittle, dry hair to total alopecia; axillary and pubic hair sparse or absent, sparse cilia, thinned eyebrows in the two lateral thirds, hyperkeratoses of the palms and soles. "Knuckle pads" are described on the fingers ; also thickenings over the knees and elbows.

Optional and variable are dental anomalies with positional defects, sensory deafness, syndactyly, pincer-nails, mental retardation, short stature, photophobia and strabismus.

Symptomatic treatment after clarification of the accompanying symptoms (e.g. eyes, ears, teeth). External creams and ointments (e.g. Ungt. emulsif. aq., 2-5% urea cream R102, Basodexan cream), oil baths (e.g. Balneum Hermal, Linola fat oil bath). Avoiding desiccating measures such as long and warm showers, hot baths, etc. If necessary, keratolytic topical preparations on hands and feet such as salicylic acid ointment (e.g. Salicylvaseline Lichtenstein, R228 ).

1. Clouston HR (1929) A hereditary ectodermal dystrophy. Canad Med Assoc J 21: 18-31
2. Koch P et al (1995) Warty palmoplantar keratoderma as a characteristic feature of Clouston-type hidrotic ectodermal dysplasia. dermatologist 46: 272-275
3. Lamartine J et al (2000) A 1.5-Mb physical map of the hidrotic ectodermal dysplasia (Clouston syndrome) gene region on human chromosomes 13q11 Genomics 67: 232-236
4. Lamartine J et al (2000) Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family. Br J Dermatol 142: 248-252
5. MacKay H et al (1929) Congenital ectodermal dysplasia. Brit J Derm 41: 1-5
6. Parhizkar N et al (2003) Metastatic melanoma in a patient with Clouston syndrome successfully treated with isolated hyperthermic limb perfusion. J Cutan Med Surg 7: 43-46
7. Smith FJ et al (2002) A novel connexin 30 mutation in Clouston syndrome. J Invest Dermatol 118: 530-532
8. Wollina U et al (1992) Hidrotic ectodermal dysplasia-trichooculodermovertebral syndrome. dermatologist 43: 158-162