Skin care, Dermatology and Allergic Diseases

Genodermatosis

Genodermatoses usually refers to diseases caused by monogenic abnormality. This textbook addresses genetic diseases separately in terms of their clinical features: It describes ichthyosis

 Keratinization, epidermolysis bullosa in that on blistering diseases, and oculocutaneous albinism in that on disorders of skin color. 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.

The commonest group was ichthyosis, followed by epidermolysis bullosa, ectodermal dysplasia, albinism, cutis laxa, progeroid conditions, precancerous conditions xeroderma pigmentosum, Rothmund Thomson syndrome, dyskeratosis congenita. Genetic heterogeneity is very common, and molecular diagnosis requires an extensive effort. Recurrent mutations in unrelated families were seen in families with xeroderma, griscelli. Prenatal diagnosis could be provided for ichthyosis, infantile hyalinosis, and progeria.