Lipoid proteinosis in a six-year-old child
Lipoid proteinosis (LiP) (OMIM 247100) is a rare autosomal recessive disease caused by loss of function mutations in the extracellular matrix protein 1 gene, ECM1, on chromosome 1q21. Clinically characterized by hoarseness in early infancy, followed by waxy papules and plaques on the face and body a...
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| Main Authors: | , |
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| Format: | Book |
| Published: |
Wolters Kluwer Medknow Publications,
2012-01-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | Lipoid proteinosis (LiP) (OMIM 247100) is a rare autosomal recessive disease caused by loss of function mutations in the extracellular matrix protein 1 gene, ECM1, on chromosome 1q21. Clinically characterized by hoarseness in early infancy, followed by waxy papules and plaques on the face and body along with pox-like and acneiform scars. We report here a 6-year-old female child with LiP, who presented to our OPD for recurrent vesicullobullous lesions and beaded lesions over eyelid margins. |
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| Item Description: | 2229-5178 10.4103/2229-5178.93490 |