ENFERMEDAD DE DOWLING-DEGOS PDF

In a few cases, pigmentation is absent. Who gets Dowling-Degos disease? Dowling-Degos disease and its variants can either be inherited from one parent autosomal dominant or appear without a family history sporadic. There seems to be a female predominance in reported cases. The onset of classic Dowling-Degos disease is in adult life, most commonly in the 20s or 30s but sometimes later. It slowly becomes more extensive with time.

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In a few cases, pigmentation is absent. Who gets Dowling-Degos disease? Dowling-Degos disease and its variants can either be inherited from one parent autosomal dominant or appear without a family history sporadic. There seems to be a female predominance in reported cases.

The onset of classic Dowling-Degos disease is in adult life, most commonly in the 20s or 30s but sometimes later. It slowly becomes more extensive with time. Gene defects that result in an inability to produce keratin 5 have recently been identified in several affected families.

What is the genetic defect in Dowling-Degos disease? A number of families with classic Dowling-Degos disease and Galli-Galli disease have now been studied genetically. All show a gene mutation that results in a very short keratin 5 protein, so that it is effectively inactive. Keratin 5 is involved in the transfer of the melanin pigment from melanocytes to keratinocytes. It is likely that the different variants will be due to different mutations in the gene.

What are the clinical features of Dowling-Degos disease? Dowling-Degos disease affects only the skin and there are no internal effects.

Skin affected by Dowling-Degos disease can be itchy, especially in summer when the effects of heat, perspiration and friction aggravate the pigmentation and itch. Blistering is not a feature of this disease. Five patterns of classic Dowling-Degos and Galli-Galli disease are described.

Increased pigmentation Freckle-like pigmentation usually first appears in early adult life in the great folds of the skin such as armpits, groin, between and under the breasts. Common sites also include the upper arms, upper inner thighs, behind the knees and neck. It may be localised to one area such as the genitalia scrotum or vulva localised Dowling-Degos disease or gradually extend to affect most of the skin surface generalised Dowling-Degos disease.

The pigmentation may worsen in pregnancy and with sun exposure. Follicular papules These are small raised scaly pigmented or non-pigmented spots based on hair follicles. Non-pigmented Dowling-Degos disease.

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ENFERMEDAD DE DOWLING-DEGOS PDF

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