Kindler syndrome

The Kindler syndrome is a rare autosomal recessive inherited skin disease ( skin disease ), which is caused by a mutation of the Child1 gene. The disease is described in the literature as congenital bullous poikiloderma. The disease was first described in 1954 by Theresa Kindler and heard the porphyria cutanea tarda, erythropoietic protoporphyria and the actinic prurigo to the group of hereditary photodermatoses.

Diagnosis

Neonatal formation of bubbles on the skin can be observed. The often hypo- or hyper-pigmented skin is dry and slightly scaly. These photosensitivity come ( photosensitivity ), atrophy and fragility of the skin and mucous membranes and adhesions of the transitional mucosa. Already in his youth seen in these patients a periodontal disease. In the anal and genital area of ​​the patient's mucosal erosions and fissures are found. Furthermore Urethrastenose and phimosis. In the electron interruptions and branches of the basement membrane are visible.

Incidence

The Kindler syndrome is a very rare disease. Have been reported worldwide, reported since the first description of Theresa Kindler, over 100 cases of the disease. A cluster of 26 patients with this syndrome was found in a tribe in the province of Bocas del Toro in the northwest Caribbean coast of Panama.

Genetics

The cause of the Kindler syndrome is a mutation on chromosome 20, locus 20p13. In this position, the C20orf42 gene ( Child1 ), which called the kindlin -1 protein, and child activist or young child syndrome protein coded. 1 is a young child intracellular cytoskeleton linker protein which is composed of 677 amino acids.

The absence of the young child -1 protein in the skin leads to a number of changes in the basal keratinocytes: the cell polarity is removed, the proliferation is significantly reduced, and number of cells undergoing apoptosis (programmed cell death).

Kindlin -1 is a homolog of the protein UNC -112 of the nematode Caenorhabditis elegans. This is a membrane -associated structural / signaling protein that plays an important role in connecting the actin cytoskeleton of the extracellular matrix.

Forecast

The patients have a normal life expectancy. With increasing age reduces the blistering of the skin. The risk of skin cancer or carcinoma of the mucous membranes ( squamous cell carcinoma ), but is significantly higher.