Urbach-Wiethe disease: a rare pediatric case report
Deepa Shetty,
Kira Pariath,
Paras Patel
et al.
Abstract:Urbach-Wiethe disease also known as lipoid proteinosis (LP) is a rare autosomal recessive Geno dermatosis.1 It is characterized by the deposition of an amorphous hyaline material in the skin, mucosa and viscera and is also known as cutaneous-mucosal hyalinosis.2,3 Parental consanguinities is identified in approximately 20% of Urbach-Wiethe disease cases. The classic manifestation due to laryngeal infiltration is a hoarse cry with its onset in infancy. Skin and mucous membrane changes become clinically apparent… Show more
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