Genodermatoses

Abstract

Genodermatoses are an inherited disorder, present with multisystem involvement. Help us to identify regular mutations and appalling skin diseases with recessive inheritance. Genetic heterogeneity is very common, and molecular diagnosis requires a broad effort. Recurrent mutations in unrelated families were seen in families with xeroderma, Griscelli. It seems likely that eventually oligonucleotide arrays will replace most other methods for routine mutation scanning of the more common diseases and planned sequencing will be increasingly used for rarer diseases.

Keywords: Benign; Ehlers–Danlos syndrome; Peutz–Jeghers syndrome; Warty dyskeratoma; dyskeratosis congenital; ectodermal dysplasia; epidermolysis bullosa; hereditary; hidrotic ectodermal dysplasia; hypohidrotic ectodermal dysplasia; incontinentia pigmenti; intraepithelial-dyskeratosis; keratosis follicularis; multiple hamartoma syndrome; pachyonychia congenital; tuberous sclerosis; white sponge nevus; xeroderma pigmentosum.