Lipoid Proteinosis: A Previously Unrecognized Mutation and Therapeutic Response to Acitretin

Acitretin Treatment for Lipoid Proteinosis

Lipoid proteinosis (LP) is a rare, autosomal-recessive disease characterized by the hoarseness and widespread cutaneous scarring, more prominent on sun-exposed areas. Yellow-white plaques can be seen on oral mucosa and on the skin among depressed scars. Histological evaluation of the affected sites shows accumulation of hyaline-like material in dermis and disruption of basement membrane. Althou...

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...

Lipoid proteinosis in a family.