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- Title
Lipoid Proteinosis Resulting from a Large Homozygous Deletion Affecting Part of the ECM1 Gene and Adjacent Long Non-coding RNA.
- Authors
Ming-Yang Lee; Hui-Jun Wang; Ying Han; Yun Zhou; Jia-Hui Zhao; Li-Na Duo; Cheng Feng; Hong Hua; Hong-Wei Liu; Zhi-Miao Lin; Yong Yang
- Abstract
The article describes the case of a 22-year-old Chinese Han man born to consanguineous first-cousin parents with lipoid proteinosis, a rare autosomal recessive multisystem disorder. Topics discussed include the waxy beaded papules on the margins of both upper eyelids and left nasolabial fold of the man, his biopsies which revealed hyperkeratosis with acanthosis and elongated rete ridges, and his laboratory tests which showed elevated serum protein level and creatine kinase.
- Subjects
LIPOID proteinosis; LIPID metabolism disorders; CHINESE people; DISEASES
- Publication
Acta Dermato-Venereologica, 2015, Vol 95, Issue 5, p608
- ISSN
0001-5555
- Publication type
Case Study
- DOI
10.2340/00015555-2036