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
- Reticulate acropigmentation of Kitamura – reticular hyperpigmentation over dorsal hands and feet without hypopigmented macules, atrophic skin, palmoplantar pitting
- Dyschromatosis universalis hereditaria – hyper- and hypopigmented macules distributed diffusely over the trunk and a majority of the body, onset in first year of life
- Xeroderma pigmentosum – photosensitivity with progressive xerosis, atrophy, and telangiectasias on sun-exposed areas, predilection for skin cancers at a young age, autosomal recessive inheritance
- Reticulate pigmented anomaly of the flexures (Dowling-Degos disease) – brown-black hyperpigmentation of the flexures, often in axilla, neck, and inframammary areas, perioral acneiform scars