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Konradi-Hyunermann's syndrome


KONRADI-HYuNERMANNA SYNDROME (Xing. a dot inborn chondrodysplasia) – the nayosledstvenny syndrome combining an ichthyosis with skeyoletny and eye changes.

Symptoms of the Syndrome of Konradi-Hyunermann:

The disease is shown since the birth in the form of suyokhy type of an ikhtioziformny erythrosis with a "vikhyorevy" arrangement of scales in the form of curls and strips. In several months the background erythema regresses, and on site giperkeratotichesky uchayostok, especially in a zone of distal departments of konechyonost there is a follicular atrophodermia. Are noted a hypoplasia of teeth, hair (a cicatricial alopecia, disturbance of structure of hair as an uzyolovaty trichorrhexis, pili torti).

Skeletal anomalies include changes of a shape of a skull (the macrocephalia, saddle noses acting frontal hillocks), low growth, a sindakyotiliya, a polydactylia, deformations of feet, asimyometrichny shortening of extremities, scoliosis, anoyomaliya of vertebrae, edges, etc. At children's age at a X-ray analysis reveal the multiple small centers of calcification (enchondral bone formation) in cartilaginous tissue of an epiphysis of tubular bones. Eye pathology includes a cataract, an atyorofiya of an optic nerve, etc. Vrozhyodenny heart diseases, kidneys, a pulmonary artery, immune disturbances are possible. Histologically reveal a hyperkeratosis with horn traffic jams in mouths voloyosyany a follicle, expansion of output channels of ekrinny sweat glands, adjournment of calcium in a corneous layer of epidermis. The diagnosis is based on clinical, histologic and rentgenologiyochesky data (a X-ray analysis of bones).

Reasons of the Syndrome of Konradi-Hyunermann:

Nasledoyovaniye type – X-linked dominant, a lokalizayotion of a mutant gene Hr11.22-pi 1.23 to lethal effect for гемизигот a male.

Treatment of the Syndrome of Konradi-Hyunermann:

Observation and lecheyony at the oculist and the orthopedist. Treatment is similar at an ichthyosis.

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