title: Lipoid proteinosis in a 12-year-old child: a report from west India.
abstract: 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.
authors.affiliation: Department of Pathology, Terna Medical College and Hospital, Navimumbai. sangukini@yahoo.co.in
authors.forename: Sangeeta
authors.initials: S
authors.lastname: Kini
authors.forename: Ashok
authors.initials: A
authors.lastname: Jain
authors.forename: Tanuja M
authors.initials: TM
authors.lastname: Shet
authors.forename: Sangeeta
authors.initials: S
authors.lastname: Bansode
authors.forename: Ila M
authors.initials: IM
authors.lastname: Vora
authors.forename: Kanchanmala
authors.initials: K
authors.lastname: Ghorpade
mesh_terms: D000505:Alopecia / Q000209:etiology* / Q000473:pathology; D002648:Child; D004827:Epilepsy / Q000209:etiology*; D006257:Head; D006685:Hoarseness / Q000209:etiology*; D006801:Humans; D007194:India; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000150:complications* / Q000473:pathology*; D008297:Male; D009333:Neck; D012867:Skin / Q000473:pathology* / Q000648:ultrastructure; D014059:Tongue / Q000473:pathology*