Dyschromatosis symmetrica hereditaria in Adult
DSH typically presents in infants and young children as irregular hypo- and hyperpigmented macules 2-7 mm in diameter over the dorsal hands and feet. Hypopigmented macules develop first. Subsequently, hyperpigmented macules appear within hypopigmented areas. A reticular or mottled pigmentation pattern may result. While pigmentary changes may extend to more proximal areas of the upper and lower extremities, palms or soles are typically spared. In about 50% of cases, freckle-like macules develop on the face, and they may rarely extend to the neck and chest. By adolescence, there is no further progression of disease. The presentation of DSH may vary among members of the same family and those with identical mutations. Factors involved in this variable phenotypic expression are unknown.
In general, the condition is asymptomatic and changes in skin pigmentation are the only signs of disease. However, there have been reports of intellectual disability, developmental regression, dystonia, acral hypertrophy, and psoriasis in affected individuals.
Related topic: dyschromatosis universalis hereditaria
L81.9 – Disorder of pigmentation, unspecified
239085000 – Symmetrical dyschromatosis of extremities
Differential Diagnosis & Pitfalls