H-ichthyosis linked

Description:

The H-linked ichthyosis only men are ill. Soon after the birth on a neck, extremities, a trunk and buttocks the large dark brown scales similar to dirt appear.
Synonyms: the ichthyosis linked to a floor; the ichthyosis linked to X-chromosome; an ichthyosis recessive H-linked.
International classification of diseases of MKB10: Q80.1
Epidemiology.
The disease can be inborn or begins in the first months of life.
Only men are ill.
Frequency - from 1:2000 to 1:6000.

Symptoms of the Ichthyosis of H-linked:

The disease usually begins on the second or sixth week of life. On the second — the third week opacification of a cornea which occurs also at women, heterozygous on a defective gene develops.
Complaints. A sensation of discomfort because of a xeroderma. Cosmetic defect — dark brown scales on a neck, auricles, the head and hands. Opacification of a cornea usually proceeds asymptomatically. Hypogonadism.
Physical research
Skin. Rash elements. Large scales, skintight to skin (fig. 1 and 2); the mukovidny peeling is uncharacteristic. Color: dark brown, reminding dirt.
Localization: back surface of a neck, outside surface of forearms, elbow and popliteal spaces, trunk. In skin folds of rashes it is less. Palms, soles and the person are not affected. There is no White's disease also.
Eyes. Opacification of a cornea (the center is located in a stroma, in a form reminds a comma) is revealed at a half of adult patients. Opacification of a cornea sometimes occurs at women, heterozygous on a defective gene.
Generative organs. A cryptorchism (lack of a small egg in a scrotum) — at 20% of patients.

Differential diagnosis.
Lamellar ichthyosis; ordinary ichthyosis; epidermolitichesky ichthyosis; the hereditary syndromes including an ichthyosis as one of symptoms.
Additional researches.
Biochemical analysis of blood. Determination of level of sulfate of cholesterol in blood.
Patomorfologiya of skin. Hyperkeratosis; the granular layer of epidermis is not changed.

Current and forecast.
Unlike an ordinary ichthyosis the state does not improve with age. The disease becomes aggravated in the winter and when changing climate on colder. Because of insufficiency of a placental sterolsulfataza the birth of the sick child usually is followed by weakness of patrimonial activity.

The reasons of the Ichthyosis of H-linked:

Mode of inheritance — recessive, linked to X-chromosome; locus of Hr22.32. It means that:

    * if both parents disease carriers, but are not sick, then probability that their children will be sick, makes 25%, carriers of 50% and 25% are healthy (will not inherit a disease);
    * if one of parents is sick, and other carrier, then probability of a disease for each of their children makes 50%, as at dominant inheritance;
    * if both parents are sick, then all their children will be sick;

Genetically caused defect — insufficiency of a sterolsulfataza.

Treatment of the Ichthyosis of H-linked:

Topical treatment.
Emollients. There is a set of emollients. The simplest — vaseline.
Keratolytic means:
• Propylene glycol. Treatment is carried out before going to bed. 44 — 60% apply aqueous solution of propylene glycol on skin after acceptance of a bathtub and put on "pajamas" from a poly-ethylenic film. After improvement of a state this method of treatment is applied once a week or even more rare.
• Others. Salicylic acid, urea (10 — 20%), glycolic and milk acids in different dosage forms.
General treatment
Appoint inside этретинат or ацитретин. A daily dose — 0,5 — 1,0 mg/kg. After the state improves, the dose is gradually reduced to the minimum effective. Carry regularly out the general and biochemical blood tests (including a lipidic profile), and at prolonged treatment — also a X-ray analysis (calcification of soft tissues, a diffusion hyperostosis).