Dyschromatosis universalis hereditaria
Overview
Dyschromatosis universalis hereditaria is a rare genodermatosis characterized by reticulate hyper- and hypo- pigmentated macules in a generalized distribution
Symptoms
* Hyperpitmentation * Hypopigmentation * Irregular brownish gray pigmented patches * Irregular brownish gray pigmented patches on neck * Irregular brownish gray pigmented patches on upper chest
Causes
* Aplasia cutis congenita - epibulbar dermoids - skin atrophy * Arthrogryposis - atrophic tracts of skin * Atrophoderma vermiculata - skin atrophy * Barber-Say syndrome - atrophic skin * Blegvad-Haxthausen syndrome - skin atrophy
Diagnosis
In cases of diffuse thickening of the skin, a thyroid profile with T 3 , T 4 , and TSH should be done. This should also identify hypothyroidism. A positive ANA test with a speckled pattern will help identify scleroderma, but a skin biopsy should also be done. An antisclerodermal antibody titer is also useful if available. Esophageal motility studies will be helpful in early diagnosis. A skin biopsy will help identify many of the other conditions mentioned above. Urine for porphyrins will help identify porphyria.