Urbach-Weithe disease.

A 10-year-old girl born of consanguineous marriage presented with hoarseness of voice and difficulty in protruding tongue since last five years. No other family member was affected. Cardiovascular, ophthalmological and neurological examination was normal. Hematological profile was normal, including X-ray skull. Cutaneous examination showed classical multiple beaded papules along the eyelid margins – also called as moniliform blepharosis (Fig. 1a) – with pock like scars on the bilateral elbows and verrucous, hyperkeratotic plaque on the left elbow (Fig. 1b). Oral cavity examination showed woody hard tongue showing yellow white infiltration and inability to protrude tongue beyond lip margin (Fig. 1c). Multiple yellowish papules with atropic scars were noted in bilateral axillae (Fig. 1d). On the basis of classical cutaneous findings, a diagnosis of Lipoid proteinosis was made. The patient was started on acitretin (25 mg/day). It should be differentiated from lichen myxedematosus, lichen amyloidosis, xanthomatosis and colloid miliium.