Dowling-Degos Disease (DDD)

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Disease Ontology 12 DOID:0060256 KEGG 36 H00944 MeSH 43 C562924 SNOMED-CT 67 239133004

ICD10 via Orphanet 33 L81.8 UMLS via Orphanet 72 C3714534 Orphanet 58 ORPHA79145 UMLS 71 C0406811 C3714534

Genetics Home Reference : ²⁵ 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 hidradenitis. An important gene associated with Dowling-Degos Disease is POGLUT1 (Protein O-Glucosyltransferase 1), and among its related pathways/superpathways are Other types of O-glycan biosynthesis and Developmental Biology. Affiliated tissues include skin, breast and liver, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Disease Ontology : ¹² A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.

NIH Rare Diseases : ⁵² 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. Other features may include dark lesions on the face and back that resemble blackheads, red bumps around the mouth that resemble acne, depressed or pitted scars on the face similar to acne scars but with no history of acne, cysts within hair follicles (pilar cysts ) on the scalp, and rarely, patches of skin that are unusually light in color (hypopigmented). Symptoms typically develop in late childhood or in adolescence and progress over time. While the skin changes caused by Dowling-Degos disease can be bothersome, they typically don't cause health problems. Dowling-Degos disease is caused by mutations in the KRT5 gene . This condition is inherited in an autosomal dominant pattern.

KEGG : ³⁶ Dowling-Degos disease is a rare pigmented skin disorder caused by mutations in keratin 5 and protein O-fucosyltransferase 1. Small hyperpigmented macules appear in a clustered or reticulated pattern at flexural sites, such as the neck, axilla, and anticubital fossa. There may be comedo-like papules on the back and pitted scars on perioral or facial regions.

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased shRNA abundance (Z-score < -2)	GR00366-A-145	9.55	MFNG
2	Decreased shRNA abundance (Z-score < -2)	GR00366-A-147	9.55	KRT4
3	Decreased shRNA abundance (Z-score < -2)	GR00366-A-161	9.55	MFNG
4	Decreased shRNA abundance (Z-score < -2)	GR00366-A-169	9.55	NOTCH2
5	Decreased shRNA abundance (Z-score < -2)	GR00366-A-188	9.55	KRT4
6	Decreased shRNA abundance (Z-score < -2)	GR00366-A-190	9.55	NOTCH2
7	Decreased shRNA abundance (Z-score < -2)	GR00366-A-2	9.55	MFNG
8	Decreased shRNA abundance (Z-score < -2)	GR00366-A-208	9.55	POFUT1
9	Decreased shRNA abundance (Z-score < -2)	GR00366-A-34	9.55	MFNG
10	Decreased shRNA abundance (Z-score < -2)	GR00366-A-37	9.55	MFNG
11	Decreased shRNA abundance (Z-score < -2)	GR00366-A-56	9.55	NOTCH2
12	Decreased shRNA abundance (Z-score < -2)	GR00366-A-63	9.55	KRT4 MFNG
13	Decreased shRNA abundance (Z-score < -2)	GR00366-A-67	9.55	KRT4
14	Decreased shRNA abundance (Z-score < -2)	GR00366-A-85	9.55	NOTCH2
15	Decreased shRNA abundance (Z-score < -2)	GR00366-A-92	9.55	NOTCH2
16	Decreased shRNA abundance (Z-score < -2)	GR00366-A-93	9.55	POFUT1

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

Search GEO for disease gene expression data for Dowling-Degos Disease.