Preferred Label : Dyschromatosis symmetrica hereditaria;
Symbol : DSH;
CISMeF acronym : DSH; DSH1; RAD;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Dyschromatosis symmetrica hereditaria 1; Symmetric dyschromatosis of the extremities; Reticulate acropigmentation of dohi; RAD; DSH1;
Description : Dyschromatosis symmetrica hereditaria (DSH), also called symmetric dyschromatosis
of the extremities and symmetric or reticulate acropigmentation of Dohi (Komaya, 1924),
is characterized by hyperpigmented and hypopigmented macules on the face and dorsal
aspects of the extremities that appear in infancy or early childhood. DSH generally
shows an autosomal dominant pattern of inheritance with high penetrance. The condition
has been reported predominantly in Japanese and Chinese individuals. - 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 (see DDD1; 179850), reticulate acropigmentation of Kitamura (RAK; 615537),
reticulate acropigmentation of Dohi (RAD), 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 For a discussion of
genetic heterogeneity of reticulate pigment disorders, see 179850.;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the adenosine deaminase, RNA-specific gene (ADAR, 601059.0001);
Prefixed ID : #127400;
Origin ID : 127400;
UMLS CUI : C0406775;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
