ABSTRACT
Lipoid proteinosis or Urbach-Wiethe disease is a rare autosomal recessive mucocutaneous disorder caused by mutation in the EMC1 gene. Hoarseness is observed in early childhood associated with infiltration and thickening of skin. Multiple systemic manifestations develop involving mucosal deposition of hyalin material. We describe a 12-year-old boy with typical manifestations: a hoarse voice, thick skin with yellowish papules, including the typical disposition on the margin of the eyelids, infiltration of the tongue and lips, and varicella-like scars. Histopathological examination revealed deposition of hyaline substance with PAS-positive diastase-resistance at the dermoepidermal junction and around vessels. Ultrastructural study showed considerable thickening of the basal lamina of vessels besides the intense deposition of amorphous material in the dermis. Genetic analysis was not available.
