Lipoid proteinosis: A series of three cases
Lipoid proteinosis is a very rare progressive autosomal recessive disorder characterized by deposition of hyaline material in the skin, upper aerodigestive tract, and internal organs. Patients present with a history of repeated blistering, skin scarring, beaded eyelid papules, waxy papules over the...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2018-01-01
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| Series: | Indian Journal of Paediatric Dermatology |
| Subjects: | |
| Online Access: | http://www.ijpd.in/article.asp?issn=2319-7250;year=2018;volume=19;issue=2;spage=170;epage=172;aulast=Sharma |
| _version_ | 1818970129409507328 |
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| author | Astha Sharma Lalit Kumar Gupta Manisha Balai Ashok Kumar Khare |
| author_facet | Astha Sharma Lalit Kumar Gupta Manisha Balai Ashok Kumar Khare |
| author_sort | Astha Sharma |
| collection | DOAJ |
| description | Lipoid proteinosis is a very rare progressive autosomal recessive disorder characterized by deposition of hyaline material in the skin, upper aerodigestive tract, and internal organs. Patients present with a history of repeated blistering, skin scarring, beaded eyelid papules, waxy papules over the body, and laryngeal and tongue infiltration leading to hoarseness of voice. This disorder is caused by mutations in the extracellular protein 1 gene present on chromosome 1q21. We report three cases of lipoid proteinosis, who presented to our outpatient department with aforementioned features. |
| first_indexed | 2024-12-20T14:31:34Z |
| format | Article |
| id | doaj.art-270810ae28794c87a5e8c8685efbe662 |
| institution | Directory Open Access Journal |
| issn | 2319-7250 |
| language | English |
| last_indexed | 2024-12-20T14:31:34Z |
| publishDate | 2018-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Paediatric Dermatology |
| spelling | doaj.art-270810ae28794c87a5e8c8685efbe6622022-12-21T19:37:36ZengWolters Kluwer Medknow PublicationsIndian Journal of Paediatric Dermatology2319-72502018-01-0119217017210.4103/ijpd.IJPD_131_16Lipoid proteinosis: A series of three casesAstha SharmaLalit Kumar GuptaManisha BalaiAshok Kumar KhareLipoid proteinosis is a very rare progressive autosomal recessive disorder characterized by deposition of hyaline material in the skin, upper aerodigestive tract, and internal organs. Patients present with a history of repeated blistering, skin scarring, beaded eyelid papules, waxy papules over the body, and laryngeal and tongue infiltration leading to hoarseness of voice. This disorder is caused by mutations in the extracellular protein 1 gene present on chromosome 1q21. We report three cases of lipoid proteinosis, who presented to our outpatient department with aforementioned features.http://www.ijpd.in/article.asp?issn=2319-7250;year=2018;volume=19;issue=2;spage=170;epage=172;aulast=SharmaLipoid proteinosismoniliform blepharosispock scarsUrbach-Wiethe disease |
| spellingShingle | Astha Sharma Lalit Kumar Gupta Manisha Balai Ashok Kumar Khare Lipoid proteinosis: A series of three cases Indian Journal of Paediatric Dermatology Lipoid proteinosis moniliform blepharosis pock scars Urbach-Wiethe disease |
| title | Lipoid proteinosis: A series of three cases |
| title_full | Lipoid proteinosis: A series of three cases |
| title_fullStr | Lipoid proteinosis: A series of three cases |
| title_full_unstemmed | Lipoid proteinosis: A series of three cases |
| title_short | Lipoid proteinosis: A series of three cases |
| title_sort | lipoid proteinosis a series of three cases |
| topic | Lipoid proteinosis moniliform blepharosis pock scars Urbach-Wiethe disease |
| url | http://www.ijpd.in/article.asp?issn=2319-7250;year=2018;volume=19;issue=2;spage=170;epage=172;aulast=Sharma |
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