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Images in Dermatology
October 31, 2018

Lipoid Proteinosis

Author Affiliations
  • 1Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
  • 2Department of Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
JAMA Dermatol. Published online October 31, 2018. doi:10.1001/jamadermatol.2018.3435

A school-age boy born of a third-degree consanguineous marriage presented with hoarseness of voice and multiple skin-colored papules on the upper eyelids of both eyes present since early childhood. There was no history of neurological complaints or similar history among his family members. Cutaneous examination revealed firm papules set closely together in a beaded fashion on the upper eyelids and lid margins (moniliform blepharosis) of both eyes (Figure). His background skin was waxy, and there were skin-colored papules coalescing to form indurated plaques on the forehead along with few atrophic scars on the back, elbows, and hands. Oral examination revealed a short, woody, thickened tongue with indentations and a short frenulum. Histopathological examination showed deposition of periodic acid–Schiff–positive eosinophilic hyaline material along the wall of dermal blood vessels as well as in the dermis. Direct laryngoscopy showed thickened arytenoids, palate, and vocal cords with restricted movement. Computed tomography findings of the brain were normal. Based on the clinical features, corroborated by histopathologic analysis, a diagnosis of lipoid proteinosis was rendered.

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