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.