Christ-Siemens-Touraine syndrome

from Wikipedia, the free encyclopedia

The Christ-Siemens-Touraine syndrome ( x-linked on or hypohidrotic ectodermal dysplasia ) is a rare inherited disease that with a number of malformations of the descendants ectodermal associated tissue. It is already noticeable in childhood with the complete or partial absence of the sweat glands.

Inheritance

The syndrome occurs as X-recessive-linked mutations of the genes XLHED, EDA and ED1, which are mapped to the region Xq12-q13.1 . However, there are similar cases with autosomal dominant inheritance and with autosomal recessive transmission. The EDA gene encodes ectodysplasin-A , a protein from the family of tumor necrosis factor-α ligands. The gene product that ectodysplasin-A plays an important role in the interaction between epithelium and mesenchyme, and specifically in the development control and differentiation of the skin appendages .

Symptoms

This syndrome is a very rare hereditary disease (prevalence, sources fluctuating, around 1: 10,000 worldwide), characterized by a system dysplasia of descendants of the ectodermal tissue. The skin and its appendages (hair, nails, sweat glands and sebum ) are particularly affected .

The core symptoms are more or less pronounced hypohidrosis , hypotrichosis and hypodontia . On the dermatological side, the skin is dry, scaly, often eczematous , caused by a reduced or absent attachment of sweat and sebum glands. As a result, it can lead to a reduced sweat secretion with disturbances of the thermoregulation in the organism, which causes a strong fever , which can also lead to death.

Malformations of the head

Actor Michael Berryman , who was diagnosed with the syndrome

Common symptoms

Rare symptoms

literature

Individual evidence

  1. ^ Christ-Siemens-Touraine syndrome. In: Orphanet (Rare Disease Database).