title: Lipoid proteinosis in two siblings: a report from India.
abstract: Lipoid proteinosis is an autosomally recessive genodermatosis characterized by widespread deposition of eosinophilic hyaline-like material in the skin, mucous membranes, and other internal organs. Occurrence of lipoid proteinosis in siblings is very rare. We report two siblings from the Indian subcontinent with the classical features of lipoid proteinosis. Both the siblings had had hoarseness of voice and spontaneous vesicular eruptions healing with atrophic scars since their early childhood. They had diffuse waxy thickening of the skin along with beaded papules along the eyelid margin. The tongue was also infiltrated. Skin biopsy demonstrated periodic acid Schiff (PAS) positive eosinophilic material around the blood vessels and appendages.
authors.affiliation: Department of Dermatology & Venereology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Gomathy
authors.initials: G
authors.lastname: Sethuraman
authors.forename: Trilokraj
authors.initials: T
authors.lastname: Tejasvi
authors.forename: Binod K
authors.initials: BK
authors.lastname: Khaitan
authors.forename: Kumud K
authors.initials: KK
authors.lastname: Handa
authors.forename: Satish
authors.initials: S
authors.lastname: Rao
authors.forename: Manoj K
authors.initials: MK
authors.lastname: Singh
authors.forename: Chandrasekhar
authors.initials: C
authors.lastname: Sirka
authors.forename: Vinod K
authors.initials: VK
authors.lastname: Sharma
mesh_terms: D001707:Biopsy, Needle; D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D007194:India; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000235:genetics* / Q000473:pathology* / Q000628:therapy; D008297:Male; D010375:Pedigree; D011379:Prognosis; D018570:Risk Assessment