Ichthyosis bullosa is one of the various forms of ichthyosis.
It is characterized by the combination of a skin thickening (hyperkeratosis named) and a fragile following the formation of bubbles. This form of ichthyosis is different from other ichthyosis where there are dander (dead skin) more than thickening.
The child at birth has a red skin with blisters or delaminated areas of skin. At this stage, the skin appearance resembles other diseases involving bubbles such as epidermolysis bullosa.
Growing up, the child will present fewer bubbles but the skin will remain fragile. Bubbles and detachments may continue to appear on areas of trauma or friction. Together with the bubbles disappear, the skin will thicken. This thickening of the skin gives a "warty" aspect with a more or less pronounced relief. The skin takes some aesthetic grayish taken by the entourage to a lack of hygiene. The skin is rough to the touch. This thickening at the joints predominates. The face is often not achieved, there is no ectropion (eyelid pulled outward) as in other forms of ichthyosis. The scalp is reached. The palms and soles are thickened in some patients. The severity and extent of skin thickening that vary between patients. Severe forms may be difficult to bend the joints due to the rigidity of the skin.
In general there is no skin redness or slight to moderate redness. The thickening of the skin is often responsible for proliferation of microbes like bacteria that can give the skin an unpleasant odor.
Skin biopsy if performed shows very general signs of the disease, especially in the form of granules.
Genetically, bullosa ichthyosis is caused by mutations of certain keratins that are keratins 1 and 10. There are several types of keratin in the skin. Keratins are present in large quantities and are essential components of the skin.
When there is a mutation of keratin 1 or 10, the mutated gene will interfere with the normal gene and the inability to maintain its normal function. The result is the appearance of the fragility of the skin. The fragility of the skin is associated with increased permeability of the skin. The Bullous ichthyosis can be transmitted to offspring in an autosomal dominant, that is to say that a subject has reached in each pregnancy 1 probability of 2 of transmitting the disease to offspring (see listing on the genetic transmission on the site). Prenatal diagnosis can be discussed in these situations.
Concerning the treatment, none to date can correct the consequences of mutations keratins. Nevertheless, one can use a treatment that reduces the thickening of the skin. To this can be used emollients (moisturisers) or keratolytic (moisturizers which are incorporated in products that help to eliminate the thickness of the skin: eg urea) (see terms of repayment of these products on the site ). These keratolytic can however be poorly tolerated and cause irritation and burns, or even detachment of the skin and cracks. The soriatane R (acitretin) is a drug tablet that can be used . By finding the right dose, it can reduce the thickness of the skin without too weaken (see listing on this drug on the site).
Pr Juliette MAZEREEUW - HAUTIER