Lipoid Proteinosis in a 12-year-old child: a report from west India
| Autor: | Sangeeta Bansode, Tanuja M Shet, Sangeeta Kini, Kanchanmala Ghorpade, Ashok Jain, Ila M Vora |
|---|---|
| Rok vydání: | 2006 |
| Předmět: |
Male
medicine.medical_specialty India Dermatology Epilepsy Tongue medicine Humans Patchy alopecia Child Skin Hoarseness integumentary system business.industry Papillary dermis Alopecia Histology General Medicine medicine.disease medicine.anatomical_structure Clinical diagnosis Scalp Lipoid Proteinosis of Urbach and Wiethe Eyelid business Skin lesion Head Neck |
| Zdroj: | Kini, Sangeeta; Jain, Ashok; Shet, Tanuja M; Bansode, Sangeeta; Vora, Ila M; & Ghorpade, Kanchanmala. (2006). Lipoid Proteinosis in a 12-year-old child: a report from west India. Dermatology Online Journal, 12(1). Retrieved from: http://www.escholarship.org/uc/item/53p9q04q |
| ISSN: | 1087-2108 |
| DOI: | 10.5070/d353p9q04q |
| Popis: | A 12-year-old male child born of non-consanguineous parents presented with multiple skin lesions, hoarseness of voice, and episodes of epilepsy since early childhood. The findings of characteristic beaded eyelid margins, patchy alopecia of the scalp, hoarseness of voice, and epilepsy were consistent with a rare clinical diagnosis, lipoid proteinosis. Skin biopsies obtained from representative skin lesions were subjected to histology and electron microscopy. Light microscopy demonstrated PAS-positive diastase-resistant material in the papillary dermis of skin. Ultrastructure revealed granulo-filamentary aspect of the accumulated material. Although this rare autosomal recessive disorder has been described in the literature, its occurrence is rare in India. |
| Databáze: | OpenAIRE |
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