Dyschromatosis Universalis Hereditaria: Report of a case and Review of the Literature

Abstract

We describe dyschromatosis universalis in a 19-month-old Saudi Arabian girl. She had no associated defects and none of the other family members were affected. Similar cases reported from countries other than the Far East, where the disease was first described, are discussed.

Dyschromatosis Universalis Hereditaria - Case Report of a Rare Genodermatosis in India

“…[9,10] A large number of systemic associations have been reported with DUH including tuberous sclerosis, X linked ocular albinism, grand mal epilepsy, glaucoma, cataract, learning difficulties, insulin-dependent diabetes mellitus, teeth abnormalities, and small stature. [11] No such features, however, were present in our patient. Lesions of DUH have to be differentiated from xeroderma pigmentosum, since in both the disorders patients clinically show lesions in the photoexposed areas.…”

Dyschromatosis symmetrica hereditaria with cutaneous lupus erythematosus and hyperthyroidism

“…However, an extensive PubMed search revealed no association between DSH and autoimmune diseases. Although two cases of DSH have been reported from Saudi Arabia, to the best of our knowledge, our patient is the first case reported with associated CLE and hyperthyroidism 2,16…”

“…Many novel ADAR1 mutations have been described in DSH patients. Although these cases predominantly occurred in East Asian individuals, few DSH cases have been described originating elsewhere 2,4,8,9…”

“…DSH usually starts in early childhood and is characterized by the presence of multiple hyper- and hypopigmented macules in a reticular configuration and a symmetrical distribution over the extremities, especially the dorsa of the hands and feet 2,5,9. Cases with more widespread lesions involving the face, neck, and chest have been described 6.…”

“…It is characterized by the presence of both hyper- and hypopigmented macules that are arranged in a reticular pattern and distributed symmetrically over the face, trunk, and distal limbs, especially the dorsa of the hands and feet 1,2. DSH usually starts in infancy or early childhood and persists for life 3.…”