SNP Shot: Genomic Insights

Dowling-Degos disease is a skin disorder marked by a distinctive net-like (reticulate) pattern of darkened skin (hyperpigmentation). This hyperpigmentation is primarily found in skin folds and creases. It commonly starts in the armpits and groin, potentially spreading to other areas like the inner elbows, behind the knees, and beneath the breasts. Less often, it can affect the neck, wrists, backs of the hands, face, scalp, scrotum, and vulva. Typically, these darkened areas pose no medical risk.

People with Dowling-Degos disease may also develop dark, blackhead-like spots (lesions) on the face and back, acne-like red bumps around the mouth, or pitted facial scars resembling acne scars but without a history of acne. Fluid-filled cysts within hair follicles (pilar cysts) may form, usually on the scalp. In rare instances, lighter-than-normal skin patches (hypopigmentation) may be present.

Rarely, individuals with Dowling-Degos disease may experience itchy (pruritus) or burning sensations on their skin. These sensations can be triggered by factors like UV light, sweating, or skin friction.

The characteristic skin darkening associated with Dowling-Degos disease usually starts in late childhood or adolescence, although it can sometimes appear later in adulthood. New areas of hyperpigmentation tend to emerge over time, and the number of other skin lesions may also increase. Although these skin changes may cause emotional distress, they are not usually associated with other health issues.

Galli-Galli disease shares similar signs and symptoms with Dowling-Degos disease. In addition to the pigmentation changes, Galli-Galli disease involves a breakdown of cells in the outer layer of the skin (acantholysis). Acantholysis can cause skin irritation, itching, and lead to areas of reddened or missing skin (erosions). While formerly considered separate, Galli-Galli disease and Dowling-Degos disease are now considered the same condition.

Inheritance:

The inheritance pattern for this condition is autosomal dominant. This means that only one copy of the mutated gene in each cell is needed to cause the disorder.