Lipoid proteinosis in two siblings: a report from India
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Published on: April 8, 2018
Gomathy Sethuraman1, Trilokraj Tejasvi, Binod K Khaitan
1Department of Dermatology & Venereology, All India Institute of Medical Sciences, New Delhi, 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.
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