Dowling-degos disease 1

Preferred Label : Dowling-degos disease 1;

Symbol : DDD1;

CISMeF acronym : DDD; DDD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : DDD; Reticular pigment anomaly of flexures;

Description : Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by reticular pigmentation, usually in a flexural distribution. However, generalized DDD can also occur, with numerous hypopigmented or erythematous macules and papules on the neck, chest, and abdomen. The histopathology of DDD shows characteristic thin branch-like patterns of epidermal downgrowth (summary by Li et al., 2013). - Review of Reticulate Pigment Disorders Muller et al. (2012) reviewed the spectrum of reticulate pigment disorders of the skin, tabulating all reported cases of patients with Dowling-Degos disease, reticulate acropigmentation of Kitamura (RAK; 615537), reticulate acropigmentation of Dohi (RAD; 127400), Galli-Galli disease (GGD), and Haber syndrome (HS). Of 82 cases, 26 (31.7%) were clinically diagnosed as DDD, 13 (15.9%) as RAD, 11 (13.4%) as GGD, 8 (9.8%) as RAK, and 8 (9.8%) as HS; in addition, 16 (19.5%) of the cases showed overlap between DDD and RAK. Muller et al. (2012) also published photographs of an affected individual exhibiting an overlap of clinical features of DDD, GGD, RAD, and RAK. The authors noted that in reticulate disorders of the skin, the main disease entity is DDD, with a subset of cases exhibiting acantholysis (GGD), facial erythema (HS), or an acral distribution (RAD; RAK). Muller et al. (2012) concluded that all reticulate pigment diseases of the skin are varying manifestations of a single entity. - Genetic Heterogeneity of Reticulate Pigment Disorders Dowling-Degos disease-2 (DDD2; 615327) is caused by mutation in the;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the keratin 5 gene (KRT5, 148040.0018);

Prefixed ID : #179850;

Details

Origin ID

179850;

UMLS CUI

C4552092;

Automatic exact mappings (from CISMeF team)
- Defined Daily Dose [Descripteur TSP]
- KRT5 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Dowling Degos disease [PASCAL descriptor]
- Dowling Degos disease [Disease (Nov.)]
- Dowling-Degos disease [DO Concept]
- Dowling-Degos disease [ICD-11 More detail]
- Dowling-Degos disease [MedDRA Preferred Term]
- Dowling-Degos disease [MeSH concept]
- Dowling-Degos disease [MeSH Supplementary Concept]
- Dowling-Degos disease [ORDO Disease]
DO Cross reference
- Dowling-Degos disease [DO Concept]
False automatic mappings
- Mitotane [NCIt concept]
- Mitotane (substance) [SNOMED CT concept]
- dichlorodiphenyldichloroethane [Substance BNPC]
- dichlorodiphenyldichloroethane [MeSH Descriptor]
- dichlorodiphenyldichloroethane [MeSH concept]
- mitotane [SNOMED Notion]
Genes related to phenotype
- Keratin 5, type II [OMIM gene]
HPO term(s)
- Adolescent onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Histological abnormality of the skin [HPO term]
- Progressive reticulate hyperpigmentation [HPO term]
ORDO concept(s)
- Dowling-Degos disease [ORDO Disease]
See also inter- (CISMeF)
- Reticulate Acropigmentation of Kitamura [MeSH concept]
- Reticulate acropigmentation of Kitamura [ORDO Disease]
- Reticulate acropigmentation of Kitamura (disorder) [SNOMED CT concept]
- reticulate acropigmentation of Kitamura [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dowling-Degos disease [MedDRA Preferred Term]
- Dowling-Degos disease [MeSH Supplementary Concept]
- Dowling-Degos disease [ORDO Disease]

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