Lipoid proteinosis: Report of three cases in one family

Lipoid proteinosis in a family.

alport syndrome: report of three cases in one family

purpose: to report three cases of alport syndrome in one  family with anterior lenticonus and retinal flecks. patients and findings: three members of one family with consanguineous parents are presented who had renal and ocular involvement. they had anterior lenticonus and a beaten bronze appearance in the macula. reduced visual acuity and photophobia were the chief complaints of these patients...

Pseudoxanthoma Elasticum: A Report of Three Cases in a Family

Pseudoxanthoma Elasticum is an inherited disorder characterized by generalized fragmentation and progressive calcification of the elastic tissues in the dermis, blood vessels and Bruch’s membrane of the eye. Herein, we report 3 patients in a family with pseudoxanthoma elasticum: a father and his two sons.

Lipoid Proteinosis

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.

Lipoid Proteinosis.

The case of a 37-year-old woman with lipoid proteinosis is presented. The first symptoms of hoarseness of voice occurred in puberty. Additional symptoms included beaded eyelid papules, macroglossia with yellowish papules, yellowish deposits of soft palate, popular eruption in the axillary area and tuberous nodules on the elbows.

Lipoid 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...