Dowling-Degos Disease (DDD)

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MedlinePlus Genetics: ⁴² Dowling-Degos disease is a skin condition characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), particularly in the body's folds and creases. These skin changes typically first appear in the armpits and groin area and can later spread to other skin folds such as the crook of the elbow, back of the knee, and under the breasts. Less commonly, pigmentation changes can also occur on the neck, wrists, back of the hands, face, scalp, scrotum, and vulva. These areas of hyperpigmentation typically cause no health problems.Individuals with Dowling-Degos disease may also have dark spots (lesions) on the face and back that resemble blackheads, red bumps around the mouth that resemble acne, or pitted scars on the face similar to acne scars but with no history of acne. Fluid-filled sacs within the hair follicle (pilar cysts) may develop, most commonly on the scalp. Rarely, affected individuals have patches of skin that are unusually light in color (hypopigmented).In rare cases, individuals with Dowling-Degos disease experience itching (pruritus) or burning sensations on the skin. These feelings can be triggered by UV light, sweating, or friction on the skin.The pigmentation changes characteristic of Dowling-Degos disease typically begin in late childhood or in adolescence, although in some individuals, features of the condition do not appear until adulthood. New areas of hyperpigmentation tend to develop over time, and the other skin lesions tend to increase in number as well. While the skin changes associated with Dowling-Degos disease may cause distress or anxiety, they typically cause no other health problems.A condition called Galli-Galli disease has signs and symptoms similar to those of Dowling-Degos disease. In addition to pigmentation changes, individuals with Galli-Galli disease also have a breakdown of cells in the outer layer of skin (acantholysis). Acantholysis can cause skin irritation and itchiness and lead to reddened or missing patches of skin (erosions). These conditions used to be considered two separate disorders, but Galli-Galli disease and Dowling-Degos disease are now regarded as the same condition.

MalaCards based summary: Dowling-Degos Disease, also known as reticular pigment anomaly of flexures, is related to hidradenitis suppurativa and reticulate acropigmentation of kitamura. An important gene associated with Dowling-Degos Disease is POGLUT1 (Protein O-Glucosyltransferase 1), and among its related pathways/superpathways are Neuroscience and Pre-NOTCH Expression and Processing. Affiliated tissues include skin and liver, and related phenotypes are progressive reticulate hyperpigmentation and abnormality of the neck

GARD: ¹⁹ Dowling-Degos disease is characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation) in the body's folds and creases. Other features may include abnormal growths and pus-filled swellings in the armpits, back, and neck. Symptoms typically develop in late childhood or in adolescence and progress over time. The classic form of Dowling-Degos disease occurs when the KRT5 gene is not working correctly. This condition is inherited in an autosomal dominant pattern. The skin changes caused by Dowling-Degos disease can be distressing, but they typically don't cause health problems.

Orphanet: ⁵⁸ A rare, genetic, hyperpigmentation of the skin disease characterized by adulthood-onset of reticular, reddish-brown to dark-brown, macular and/or comedone-like, hyperkeratotic papules with hypopigmented macules, predominantly affecting flexural areas and, on occasion, progressing to involve trunk and acral regions. Histologically, epidermal acanthosis, thin, branch-like, rete ridges, and a tendency for acantholysis and pigmentary incontinence is observed.

Disease Ontology: ¹¹ A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.

Search Clinical Trials, NIH Clinical Center for Dowling-Degos Disease