Lipoid Proteinosis: a case report in two siblings

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" Lipoid Proteinosis: a case report in two siblings "
Ranjan, Rashmi; goel, khushbu; sarkar, rashmi; garg, vijay kumar

Document Type	:	AL
Record Number	:	923818
Doc. No	:	LA72c3461z
Language of Document	:	English
Main Entry	:	Ranjan, Rashmi; goel, khushbu; sarkar, rashmi; garg, vijay kumar
Title & Author	:	Lipoid Proteinosis: a case report in two siblings [Article]\ Ranjan, Rashmi; goel, khushbu; sarkar, rashmi; garg, vijay kumar
Title of Periodical	:	Dermatology Online Journal
Volume/ Issue Number	:	21/3
Date	:	2015
Abstract	:	Lipoid proteinosis was first reported by Urbach and Wiethe in 1929. It is also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease. It is a rare autosomal recessive disorder and characterized by the infiltration of hyaline material in the skin, oral cavity, larynx, and internal organs. Lipid proteinosis presents early in life. Hoarseness develops in infancy. The classic sign is beaded eyelid papules along the lid margin, also known as ‘Monilform Blepherosis’. In India about 30 cases have been reported to date. We report the following case because of its rarity in the Indian literature.