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 is a sporadic congenital metabolic disorder which is characterized by deposition of hyaline material in dermis, submucosal connective tissue, and various internal organs. It has an extremely low prevalence rate with less than 300 cases reported so far. This progressive disease has a vast spectrum of manifestations ranging from asymptomatic lesions to fatal seizures and respir...

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 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...

Lipoid proteinosis is a rare, autosomal-recessive, genetic disorder characterized by multisystem involvement due to intracellular deposition of amorphous hyaline material. The disease is due to a mutation in the extracellular matrix of the protein 1 gene. The skin, mucosa, and central nervous system are commonly affected. Hallmark findings in the brain are calcifications, mostly occurring in th...

osting by E C BY-NCAbstract Lipoid proteinosis is an autosomal recessive disease of abnormal deposition of glycoprotein in various tissues. Symptoms may include a hoarse voice, lesions and scarring on the skin, easily damaged skin with poor wound healing, dry, wrinkly skin, and beading of the papules around the eyelids. Calcifications of brain tissue can lead to epilepsy and neuropsychiatric ab...

lipoid proteinosis (lp) is a rare autosomal recessive disease characterized by the deposition of an amorphous hyaline material in the skin, mucosa and viscera. the classic manifestation is onset in infancy with a hoarse cry due to laryngeal infiltration. skin and mucous changes develope, and the disease follows a slowly progressive course. in this case report, a 49 year-old man presented with a...