Is it always blepharitis? Urbach-Wiethe syndrome (lipoid proteinosis) / É sempre blefarite? Síndrome de Urbach-Wiethe (proteinose lipóide)

ABSTRACT A 12-year-old girl presented with recurrent crusty debris and dandruff at the base of both eyelashes despite having completed different medical treatments. She had had a hoarse voice since her early childhood. Upon anterior segment examination of the eyes, we found yellow-white, bead-like papules on the margins of the eyelids. An otolaryngologist detected multiple nodules on the vocal cords and buccal mucosa. Ultrasonography revealed salivary stones in the main parotid ducts. And a dermatological examination revealed thickened skin lesions on the elbows and knees with a biopsy showing histopathological findings of lipoid proteinosis. We diagnosed the patients as having Urbach-Wiethe syndrome or lipoid proteinosis, a rare autosomal recessive multisystem disorder with variable manifestations vary that difficult the diagnosis. The ocular manifestations are not well known among ophthalmologists, but the typical lid lesions are pathognomonic and ophthalmologists should be aware of this presentation to identify patients with Urbach-Wiethe syndrome.

RESUMO Uma menina de 12 anos apresentava restos crostosos e caspa recorrente na base de ambos os cílios, apesar de ter completado diferentes tratamentos médicos. Ela tinha uma voz rouca desde a infância. No exame do segmento anterior dos olhos, encontramos pápulas amarelo-esbranquiçadas nas margens das pálpebras. Um otorrinolaringologista detectou múltiplos nódulos nas cordas vocais e na mucosa bucal. A ultrassonografia revelou cálculos salivares nos principais ductos parotídeos. Um exame dermatológico revelou lesões cutâneas espessas nos cotovelos e joelhos com uma biópsia mostrando os achados histopatológicos de proteinose lipoide. Diagnosticamos os pacientes da síndrome de Urbach-Wiethe ou proteinose lipoide, um distúrbio multissistêmico autossômico recessivo raro, com manifestações variáveis, que dificultam o diagnóstico. Manifestações oculares não são bem conhecidas entre oftalmologistas, mas as lesões típicas da pálpebra são patognomônicas e os oftalmologistas devem estar atentos a essa apresentação para identificar pacientes com síndrome de Urbach-Wiethe.

Esophageal aperistalsis in a patient with lipoid proteinosis

Lipoid proteinosis is a rare disorder with autosomal recessive inheritance, characterized by progressive deposition of hyaline material in the skin, mucous membrane, and different organs of the body, resulting in a multitude of clinical manifestations. A 34-year-old woman presented with hoarseness, dysphagia, eyelid beeding, and acneiform scars on the facial skin and extremities. The patient was diagnosed clinically as having lipoid proteinosis, which was confirmed by laryngeal biopsy. The objective of the present report is to describe this rare entity. This case report also illustrates that lipoid proteinosis may show protean clinical features and yet may remain undiagnosed for many years

Pentoxifilina como tratamiento efectivo de la lipoidoproteinosis / Pentoxifylline as an effective treatment of lipoidoproteinosis

La lipoido proteinosis es una enfermedad rara, que ocurre por un defecto en el gen que codifica la proteína de la matriz extracelular 1 (ECM1). Estogenera un aumento del colágeno tipo IV, que resulta en depósitos de material hialino anómalo en la dermis y otros tejidos. Actualmente no hay terapias curativas y los múltiples tratamientos utilizados han tenido resultados variables y efectos adversos relevantes.La pentoxifilina es un fármaco que inhibe al factor de crecimiento transformante beta (TGF-beta) y así, regula la producción de colágeno por los fibroblastos. Se ha empleado con éxito en casos de fibrosis renal, hepática y pulmonar y luego de la radioterapia. Se presenta este caso que constituye la primera comunicación de lipoidoproteinosis tratada con pentoxifilina, en el que se evidenció una mejoría clínica, ecográfica y laringoscópica.

Lipoid proteinosisis a rare disease, causedby a defect in the gene encoding the extracellular matrix protein 1 (ECM1), that leads to an increased of collagen type IV, resulting in abnormal deposits of hyaline material in the dermis and other tissues. Currently, there are no curative therapies; several ones have been used with varied results and adverse effects. Pentoxifylline is a drug with inhibitory effect on TGF-beta, thus regulates collagen production by fibroblasts. It has been successfully used in renal, liver and lung transplant and after radiotherapy fibrosis. We present this case because it is the first report of lipoid proteinosis treated with pentoxifylline; with demonstrated clinical, sonographic and laryngoscopic improvement.

Urbach-Wiethe disease (lipoid proteinosis).

Lipoid proteinosis is a rare autosomal recessive disorder of variable severity that may involve the skin, mucous membranes of the upper respiratory tract and internal organs that may display different clinical manifestations based on the site of involvement. A 34-year-old male patient was admitted to our hospital with a complaint of hoarseness present since childhood but had worsened in recent years. A dermatological examination revealed light brown papillomatous skin lesions on the dorsum of both hands and elbows present for a long duration. Endoscopic examination of the larynx revealed widespread mucosal thickening and irregularity. Microscopic examination revealed acid Schiff (PAS) positive, Congo red negative eosinophilic hyaline material deposits in the dermis and submucosal regions. The final diagnosis was lipoid proteinosis with skin and larynx involvement. This typical case has been reported to draw attention to the fact that lipoid proteinosis should be included in the differential diagnosis of patients presenting with hoarseness in childhood.

Lipoidoproteinose / Lipoid proteinosis

OBJETIVO: Apresentar as características clínicas, tratamento cirúrgico e achado histológico de um caso de lipoidoproteinose. DESCRIÇÃO DO CASO: Criança do sexo masculino, cinco anos de idade, branco, que procurou atendimento odontológico na Universidade. A mãe da criança relatou presença de intensa halitose e dificuldade na alimentação e higienização bucal, decorrentes de crescimento gengival generalizado nos arcos dentários superior e inferior. No exame clínico, verificaram-se comprometimento funcional e estético generalizado (rouquidão, artralgia bilateral no joelho e tornozelo, lesões tumorais nas orelhas, entre outros), além de extensa hiperplasia gengival em ambos os arcos dentários. Optou-se pelo tratamento cirúrgico, com remoção do tecido hiperplásico e exodontia de todos os dentes decíduos e de dois permanentes. O exame histopatológico da peça cirúrgica confirmou o diagnóstico de lipoidoproteinose. COMENTÁRIOS: A lipoidoproteinose é uma doença rara caracterizada pela deposição da substância hialina na pele, membranas mucosas e nos órgãos internos. Os sinais que podem surgir após o nascimento, são: rouquidão; lesões pápulo-nodulares na cabeça, pescoço e membros; lesões papulares amareladas nas margens das pálpebras. O curso desta doença é benigno e crônico.

OBJECTIVE: Report clinical characteristics, histological findings and treatment of a patient with lipoid proteinosis. CASE DESCRIPTION: Five year-old male patient was assisted in the university clinic for dental treatment. The mother reported the presence of intense halitosis and difficulties for feeding and oral hygiene due to extensive gingival hyperplasia on the maxillary and mandibular arches. Clinical examination revealed generalized functional and esthetic involvement, including hoarseness; bilateral knee and ankle arthralgia; tumoral lesions on the ears and gingival hyperplasia throughout the extent of both dental arches. The surgical treatment removed the hyperplastic tissue and all deciduous teeth, as well as two permanents teeth. Histopathological examination of the specimen confirmed the diagnosis of lipoid proteinosis. COMMENTS: Lipoid proteinosis is a rare disorder characterized by progressive deposition of hyaline material in the skin, mucous membranes and organs. Clinical signs appear after birth and are characterized by hoarseness, papulonodular lesions on the head, neck and limbs and yellowish papules on the eyelid margins, among others. The disease has a benign and chronic evolution.

Lipoid proteinosis. A report of 2 siblings and a brief review of the literature

Lipoid proteinosis is a rare autosomal recessive inherited metabolic disorder characterized by deposition of a hyaline-like material in the skin, oral laryngeal mucosa, and in other sites. In this report, the author describes 2 Saudi siblings who had characteristic skin findings, oral and mucosal lesions, histological findings along with few rarely encountered manifestations including pathognomonic calcifications in the hippocampus, electroencephalogram findings and briefly reviews the literature. These cases are presented to emphasize the occurrence of this condition in Saudi Arabia, and to update information on the latest developments of this disorder

Síndrome de Urbach-Wiethe: relato de caso / Urbach-Wiethe syndrome: a case report

Apresentação de um caso de síndrome de Urbach-Wiethe com manifestações típicas, inclusive oculares. Paciente do sexo feminino, 15 anos, com quadro de prurido ocular relacionado à presença de lesões papuliformes em margens palpebrais (blefarose moniliforme), em associação com outras alterações sistêmicas. O diagnóstico foi confirmado por meio de biópsia cutânea e foi instituído uso de lágrimas artificiais, com alívio parcial do sintoma. O objetivo do trabalho é relatar um caso com manifestações características da doença atendido no Setor de Oftalmologia da Faculdade de Medicina de Marília.

We present a case of Urbach-Wiethe syndrome with typical findings, including ocular lesions. A 15-year-old girl was referred to our department complaining of itchy eyelid lesions (moniliform blepharosis) associated with other systemic manifestations. Diagnosis was confirmed by performing skin biopsy. Artificial tears were prescribed, with partial relief of the symptom. The objective of the present study is to describe a typical case of Urbach-Wiethe syndrome attended at the Ophthalmologic Sector of the Medical School of Marília.

Lipoid proteinosis: clinical, histopatthological and ultrastructural study

This study demonstrated the reduplication of basal laminae of basement membrane zone and thickened papillary dermis with a marked deposition of hyaline-like material interspersed between thin separated collagen fibrils. Immediately surrounding the blood vessel walls, hyaline deposits were seen together with the reduplication of basal laminae in an onion-like arrangement. The fibroblasts, epithelial cells of eccrine sweat glands and dermal histiocytes showed vacuolated cytoplasm with several types of lysosomes, i.e. empty with curved tubular profiles or farber-like inclusions. Some dermal nerve endings showed dystrophic axons with multiple dense laminated bodies in axoplasm

Lipoidoproteinosis: presentación de un caso y revisión del tema / Lipoid proteinosis: report of a case and revision of the topic

Lipoidoproteinosis o enfermedad de Urbach Wiethe es una rara afección que se hereda de manera autosómica recesiva, que se caracteriza por el depósito progresivo de material de tipo hialino en piel, mucosas y otros órganos internos. Generalmente comienza en la infancia con disfonía. Presentamos el caso de un varón de 11 años portador de lipoidoproteinosis que muestra las características clínicas e histológicas típicas de la enfermedad

Hialinosis cutáneo-mucosa en tres hermanos / Mucocutaneous hyalinosis: report of 3 brothers

La hialinosis cutáneo-mucosa es un desorden raro, autosómico y recesivo, que afecta la piel, mucosas y órganos internos, cuya característica esencial es el depósito de un material hialino en y alrededor de la membrana basal de los capilares, seguido de infiltración difusa y a veces masiva del tejido intersticial. Presentamos el caso de tres hermanos con manifestaciones clásicas: cicatrices atróficas, pérdida de elasticidad palpebral, infiltración de labios, glotis y cuerda vocal. Se enfatiza en los escasos casos familiares de esta entidad

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

Lipoidoproteinose / Lipoidproteinosis

Os autores apresentam um caso de lipoidoproteinose (síndrome de Urbach-Wiethe) em um homem de 37 anos, de procedência rural. O diagnóstico foi estabelecido morfologicamente e por exame anatomopatológico. Certos aspectos histológicos säo comentados. A lipoidoproteinose é uma doença rara, autossômica recessiva, caracterizada histologicamente por deposiçäo de material hialino na derme, com envolvimento dos tratos gastrintestinal, respiratório e do sistema nervoso central

Hialinosis cutis et mucosae con estudio histoquímico y ultraestructural: reporte de un caso / Hialinosis cutis et mucosae with histochemical and structural study: report of a case

Se presenta un caso de Hialinosis cutis et mucosae en un niño de 7 años producto de padres consanguíneos, quien presentaba lesiones cicatriciales hipocrómicas generalizadas, pápulas y nódulos amarillentos principalmente en axilas, cara, labios, encías y paladar, así como infiltración de laringe, con marcada ronquera. La biopsia de piel evidenció depósito de material hialino PAS (+), diastasa resistente perivascular, peri anexial y en dermis en general. La microscopía electrónica mostró masas amorfas y fibras con aspecto de colágeno inmaduro