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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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2012-01-01
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| Series: | Indian Dermatology Online Journal |
| Subjects: | |
| Online Access: | http://www.idoj.in/article.asp?issn=2229-5178;year=2012;volume=3;issue=1;spage=25;epage=27;aulast=Nayak |
| _version_ | 1819054674175590400 |
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| author | Surajit Nayak Basanti Acharjya |
| author_facet | Surajit Nayak Basanti Acharjya |
| author_sort | Surajit Nayak |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-21T12:55:22Z |
| format | Article |
| id | doaj.art-e5650810661f4087b1d8b25f7b3b75b1 |
| institution | Directory Open Access Journal |
| issn | 2229-5178 |
| language | English |
| last_indexed | 2024-12-21T12:55:22Z |
| publishDate | 2012-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Dermatology Online Journal |
| spelling | doaj.art-e5650810661f4087b1d8b25f7b3b75b12022-12-21T19:03:22ZengWolters Kluwer Medknow PublicationsIndian Dermatology Online Journal2229-51782012-01-0131252710.4103/2229-5178.93490Lipoid proteinosis in a six-year-old childSurajit NayakBasanti AcharjyaLipoid 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.http://www.idoj.in/article.asp?issn=2229-5178;year=2012;volume=3;issue=1;spage=25;epage=27;aulast=NayakChildhoodlipoid proteinosismoniliform blepharosis |
| spellingShingle | Surajit Nayak Basanti Acharjya Lipoid proteinosis in a six-year-old child Indian Dermatology Online Journal Childhood lipoid proteinosis moniliform blepharosis |
| title | Lipoid proteinosis in a six-year-old child |
| title_full | Lipoid proteinosis in a six-year-old child |
| title_fullStr | Lipoid proteinosis in a six-year-old child |
| title_full_unstemmed | Lipoid proteinosis in a six-year-old child |
| title_short | Lipoid proteinosis in a six-year-old child |
| title_sort | lipoid proteinosis in a six year old child |
| topic | Childhood lipoid proteinosis moniliform blepharosis |
| url | http://www.idoj.in/article.asp?issn=2229-5178;year=2012;volume=3;issue=1;spage=25;epage=27;aulast=Nayak |
| work_keys_str_mv | AT surajitnayak lipoidproteinosisinasixyearoldchild AT basantiacharjya lipoidproteinosisinasixyearoldchild |