摘要
Lipoid proteinosis （LP,OMIM 247100）,also known as Urbach-Wiethe disease or lipoidosis cutis et mucosae,was first described by Urbach and Wiethe in 1929.It is a rare autosomal recessive genodermatosis characterized by hoarseness from early infancy,distinctive skin and neurological manifestations,and cutaneous lesions.It affects mucosal membranes of the upper respiratory tract,upper digestive tract,central nervous system,lymph nodes,and striated muscles.Hamada identified the genetic defect to be a loss-of-function mutation or reduced expression of the gene encoding extracellular matrix protein 1 （ECM1） on chromosome lq21 in 2002.So far,approximately,300 cases have been reported.This article reported a case with clinical and molecular findings compatible with LP.
Lipoid proteinosis （LP,OMIM 247100）,also known as Urbach-Wiethe disease or lipoidosis cutis et mucosae,was first described by Urbach and Wiethe in 1929.It is a rare autosomal recessive genodermatosis characterized by hoarseness from early infancy,distinctive skin and neurological manifestations,and cutaneous lesions.It affects mucosal membranes of the upper respiratory tract,upper digestive tract,central nervous system,lymph nodes,and striated muscles.Hamada identified the genetic defect to be a loss-of-function mutation or reduced expression of the gene encoding extracellular matrix protein 1 （ECM1） on chromosome lq21 in 2002.So far,approximately,300 cases have been reported.This article reported a case with clinical and molecular findings compatible with LP.
基金
Acknowledgment We are grateful to the patient＇s family for their contribution and participation in this clinical report. We also thank our colleagues Mr. Wei Wang and Mr. Jing Xie for their help in collecting blood samples.This study was supported by a grant of National Natural Science Foundation of China （No. 81371723）.
