A case of oral recurrent ulcerative lesions in a patient with lipoid proteinosis (Urbach-Wiethe disease).

Lipoid proteinosis is a rare autosomal recessive genodermatosis characterized by deposition of amorphous hyaline material in different parts of the body, especially the skin, mucous membranes of the upper aerodigestive tract, and internal organs. A clinical manifestation of LP usually begins as a hoarseness and failure cry soon after birth or in the first years of life. However, other conditions may occasionally appear few years later. Oral cavity is most extensively affected area by the disease and the main oral abnormalities include diffusive infiltration of white pea-size plaques and stiffening of the tongue as well as inability to protrude it. In this report, we describe the case of a woman affected by LP presenting recurrent ulcerative lesions in mouth associated with xerostomia.

Amygdalae and striatum calcification in lipoid proteinosis.

Lipoid proteinosis is a rare genodermatosis characterized by multisystem involvement due to intracellular deposition of an amorphous hyaline material. Lipoid proteinosis is caused by mutations in the ECM1 gene. In many patients, skin and mucosa abnormalities are the first manifestation. When the CNS is affected, a wide variety of neurologic abnormalities may be present. The hallmark findings are calcifications, mostly occurring in the amygdalae, hippocampus, parahippocampal gyrus, or even the striatum. Present in half of the patients, moniliform blepharosis is considered a pathognomonic finding. In the other half of patients imaging could assist in the diagnosis. The authors present a series of 3 cases of lipoid proteinosis with brief clinical data and imaging findings.

Generalized dystonia and striatal calcifications with lipoid proteinosis.

Lipoid proteinosis (LP) is an autosomal recessive disease that typically presents with papular, verrucous, poxlike, or acneiform scars and lesions and hoarseness. LP was recently mapped to the 1q21 locus and shown to result from mutations in the extracellular matrix protein 1 gene (ECM1). Epilepsy, mental retardation, and hippocampal calcifications can occur. The authors describe a patient with generalized dystonia caused by striatal calcifications.

Lipoid proteinosis of the small bowel.

We describe a 65-year-old-man who presented with acute gastrointestinal bleeding secondary to massive submucosal deposits of hyaline material in the small bowel. The histochemical and ultrastructural features of the hyaline substance were typical of lipoid proteinosis, a rare cutaneous disorder in which, to our knowledge, symptomatic compromise of internal organs has not been described previously. The patient was later found to have mild but characteristic mucocutaneous lesions of lipoid proteinosis, as well as asymptomatic deposits in other gastrointestinal sites. Our case documents that severe visceral involvement may occur in lipoid proteinosis, even in previously undiagnosed patients with mild cutaneous manifestations of the disease.

Pseudoxantoma elástico recessivo do tipo II, associado com rouquidäo / Pseudoxantoma elasticum recessive type II associated with croarseness

Os autores apresentam um caso de Pseudoxantoma elástico recessivo do tipo II associado em rouquidäo (hilinose cutis-like) e hiperelasticidade acentuada da pele (cutis laxa-like). Comentário, aspectos histológicos e revisäo bibliográfica

Lipoidoproteinose-hialinose mucocutânea: doença de Urbach-Wiethe; apresentaçäo de um caso e revisäo da literatura / Lipoidproteinosis-hyalinosis mucocutaneous: disease of Urbach-Wiethe: report of a case and review of literature

Os autores fazem a revisäo bibliográfica e apresentam um caso de Lipoidoproteinose, ou hialinose cutâneo-mucosa ou Doença de Urbach-Wiethe. Trata-se de uma doença rara, que ocorre por acumulo de material hialino de natureza bioquímica desconhecida, nas mucosas, pele, trato aéreo digestivo alto, sistema nervoso central, e em outros tecidos. Säo descritos as manifestaçöes e os achados clínicos gerais e otorrinolaringológicos, os exames complementares, bem como a evoluçäo clínica. Pela raridade e gravidade da doença que näo tende a regredir seja espontaneamente ou com tratamento, levando ao êxito letal, o otorrinolaringologista deve ter conhecimento prévio desta doença

[Hyalinosis cutis et mucosae: report of a case]. / Hialinose cutaneo-mucosa. Relato de um caso.

The clinical case of a patient with hyalinosis cutis et mucosae is reported, and the neurological, radiological and dermatological aspects involved are discussed. We point out the presence of intracranial calcifications, demonstrated by radiological examination, considered to be pathognomonic.