lipoid proteinosis in two iranian sisters: a case report and review of literature
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منابع مشابه
Lipoid Proteinosis in two Iranian Sisters: A Case Report and Review of Literature
Lipoid proteinosis is a rare autosomal recessive disorder which may be seen within a family very occasionally. Herein, we report lipoid proteinosis in two sisters characterized by verrucous lesions and hoarseness of voice, dysphagia and multiple beaded papules along the margins of their eyelids, fissured lips and thick ferenulum.
متن کاملLipoid proteinosis: case report and review of the literature.
Lipoid proteinosis is a rare autosomal recessive disorder, characterized histologically by infiltration of periodic acid Schiff-positive hyaline material into the skin, upper aerodigestive tract, and internal organs. Classical clinical features include skin scarring, beaded eyelid papules, and laryngeal infiltration leading to hoarseness. Moreover, the infiltrates in the tongue and its frenulum...
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Lipoid proteinosis is a rare autosomal recessive inherited metabolic disorder characterized by deposition of a hyaline-like material in the skin, oral laryngeal mucosa, and in other sites. In this report, the author describes 2 Saudi siblings who had characteristic skin findings, oral and mucosal lesions, histological findings along with few rarely encountered manifestations including pathognom...
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Lipoid proteinosis, a rare autosomal recessive disorder, presents in early childhood with hoarseness, skin infiltration and thickening, beaded papules on eyelid margins, and facial acneiform or pock- like scars. Although
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Lipoid proteinosis or Urbach-Wiethe disease is a rare autosomal recessive disorder. It is characterized by progressive deposition of hyaline substance in the mucous membranes, skin and internal organs. It is characterized by papular and nodular lesions on the face, elbows, knees and hands. The tongue is firm and hoarseness may be present at birth. We aim to describe one case of this disease in ...
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Pulmonary alveolar proteinosis (PAP) is a lung disorder which was first described in 1958 by Rosen et al. and is indeed rare disease with a prevalence of 0.1 per 100,000 individuals. PAP is characterized by abnormal accumulation of pulmonary surfactant in the alveolar space, which impairs gas exchange leading to a severe hypoxemia. Pulmonary surfactant is an insoluble proteinaceous material tha...
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عنوان ژورنال:
iranian red crescent medical journalجلد ۱۳، شماره ۴، صفحات ۲۸۰-۲۸۲
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