Lipoid proteinosis: a case report: Urbach & Wiethe disease.

Le résumé fourni par la source

Lipoid proteinosis (LP) is a rare autosomal recessive disease characterized by the deposition of an amorphous hyaline material in the skin, mucosa and viscera. The classic manifestation is onset in infancy with a hoarse cry due to laryngeal infiltration. Skin and mucous changes develope, and the disease follows a slowly progressive course. In this case report, a 49 year-old man presented with a longstanding hoarseness since childhood, dysphagia and asymptomatic skin lesions. Esophageal biopsy showed the deposition of homogenous eosinophilic hyaline-like material compatible with LP.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.