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Items: 9

1.

Symmetrical dyschromatosis of extremities

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. [from GTR]

MedGen UID:
96071
Concept ID:
C0406775
Congenital Abnormality
2.

Onset

The age group in which disease manifestations appear. [from HPO]

MedGen UID:
64519
Concept ID:
C0206132
Quantitative Concept
3.

Hemolytic uremic syndrome

A syndrome that is associated with microvascular diseases of the KIDNEY, such as RENAL CORTICAL NECROSIS. It is characterized by hemolytic anemia (ANEMIA, HEMOLYTIC); THROMBOCYTOPENIA; and ACUTE RENAL FAILURE. [from MeSH]

MedGen UID:
42403
Concept ID:
C0019061
Disease or Syndrome
4.

Carmol

MedGen UID:
152591
Concept ID:
C0728793
Organic Chemical; Pharmacologic Substance
5.

Oncocarbide

MedGen UID:
147555
Concept ID:
C0729129
Organic Chemical; Pharmacologic Substance
6.

Basodexan

MedGen UID:
147554
Concept ID:
C0729126
Biologically Active Substance; Organic Chemical; Pharmacologic Substance
7.

Hydrea

MedGen UID:
108506
Concept ID:
C0591617
Organic Chemical; Pharmacologic Substance
8.

Urea

A compound formed in the liver from ammonia produced by the deamination of amino acids. It is the principal end product of protein catabolism and constitutes about one half of the total urinary solids. [from MeSH]

MedGen UID:
21773
Concept ID:
C0041942
Biologically Active Substance; Organic Chemical; Pharmacologic Substance
9.

Hydroxyurea

A monohydroxyl-substituted urea (hydroxycarbamate) antimetabolite. Hydroxyurea selectively inhibits ribonucleoside diphosphate reductase, an enzyme required to convert ribonucleoside diphosphates into deoxyribonucleoside diphosphates, thereby preventing cells from leaving the G1/S phase of the cell cycle. This agent also exhibits radiosensitizing activity by maintaining cells in the radiation-sensitive G1 phase and interfering with DNA repair. (NCI04) [from NCI]

MedGen UID:
5683
Concept ID:
C0020402
Organic Chemical; Pharmacologic Substance
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