Lipoid Proteinosis
نویسندگان
چکیده
A case of lipoid proteinosis presented with multiple papular lesions on the face and hoarseness of voice from early infancy. Five sibs of the patient were affected and one had died early in infancy, probably because of laryngeal obstruction.
منابع مشابه
Lipoid proteinosis: Report of three cases in one family
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 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.
Lipoid proteinosis is a rare, autosomal recessive disorder that presents in early infancy with hoarseness, followed by pox-like and acneiform scars, along with infiltration and thickening of the skin and certain mucous membranes. Histological and ultrastructural examination reveals widespread deposition of hyaline-like material and disruption/reduplication of basement membrane around blood vess...
متن کاملLipoid Proteinosis treated as post acne scars - A clinical diagnostic error
Lipoid proteinosis is a very rare disorder in which there is infiltration of an amorphous hyaline material into the skin, oral cavity, larynx and various internal organs. It usually presents in infancy with hoarseness due to laryngeal infiltration. These patients usually develop acneiform or pock-like scars on the face either spontaneously or due to trauma. In this article, we describe a 27 yea...
متن کاملLipoid proteinosis presenting with neuropsychiatric manifestations.
Two patients with lipoid proteinosis are reported in whom paranoid symptoms were the presenting feature. Both had a long standing impairment of memory and bilateral medial temporal lobe calcification demonstrated by CT scan. Possible associations between the anatomical site of these lesions and the neuropsychiatric manifestations are discussed.
متن کاملGastrointestinal Involvement in Lipoid Proteinosis: A Ten-Year Follow-Up of a Brazilian Female Patient
Lipoid proteinosis is a rare autosomal recessive disease characterized by the deposition of hyaline material in the skin and internal organs. The main clinical features are hoarseness and typical skin lesions. In this report we describe the endoscopic and radiologic findings in a Brazilian female patient presenting extensive gastrointestinal involvement and the evolution of the detected lesions...
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