Dyschromatosis symmetrica hereditaria

A rare genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs.

Freckling

The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.


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PMID (PMCID)
29321362
 MIXED_SAMPLE Adult
A novel missense mutation of ADAR1 gene in a Chinese family leading to dyschromatosis symmetrica hereditaria and literature review.
Liu SM, Ni MX, Zhang MC, Zhu PR, Wu QY, Jiang WJ, Zhang J, Li WW, Xia XY.
J Genet. 2017;96(6):1021-1026.
Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant pigmentary genodermatosis, which is characterized by a mixture of hyperpigmented and hypopigmented macules on the dorsal of the hands and feet, and on the face presented like freckle.
11167700
 MALE
Useful applications of DNA repair tests for differential diagnosis of atypical dyschromatosis symmetrica hereditaria from xeroderma pigmentosum.
Ohtoshi E, Matsumura Y, Nishigori C, Toda KI, Horiguchi Y, Ikenaga M, Miyachi Y.
Br J Dermatol. 2001;144(1):162-8.
Dyschromatosis symmetrica hereditaria (DSH) is a hereditary skin disease characterized by the presence of pigmented and hypopigmented macules on the extremities and freckles on the face.