Lipoid proteinosis: a rare disease in pediatric dentistry

Abstract This report describes the diagnostic process of a rare disorder in a Brazilian female child. The patient presented initially as a 7-year-old with multiple whitish submucosal nodules of a fibrous consistency in the lower lip, but with an inconclusive pathology report. When she turned 9 years of age, she presented with exacerbation of the original clinical findings, which then involved the upper lip, buccal mucosa, tongue and lingual frenulum. In addition, dermatological lesions were noted on the child's limbs and face, as well as a hoarse voice. Histopathological examination of the buccal mucosa revealed dense connective tissue with hyaline foci, which were positive with periodic acid-Schiff (PAS) staining and resistant to diastase digestion. Clinical and histopathological findings led to the diagnosis of a rare genetic disease with fewer than 300 reported cases - lipoid proteinosis. Magnetic resonance imaging revealed calcium deposits in her amygdaloid region of the brain, and nasopharyngolaryngoscopy revealed lesions in her vocal cords. The patient currently is stable and under multidisciplinary follow-up, but no treatment has been recommended to date.

Resumo Este relato descreve o processo diagnóstico de uma doença rara em uma criança brasileira do sexo feminino. A paciente, inicialmente com 7 anos de idade, apresentava múltiplos nódulos submucosos esbranquiçados, de consistência fibrosa, no lábio inferior, mas com um laudo patológico inconclusivo. Quando completou 9 anos de idade, ela apresentou exacerbação dos achados clínicos originais, que envolveram o lábio superior, mucosa bucal, língua e frênulo lingual. Além disso, lesões dermatológicas foram observadas nos membros e no rosto da criança, assim como rouquidão. O exame histopatológico da mucosa bucal revelou tecido conjuntivo denso com focos hialinos, que foram positivos com coloração periódica com ácido-Schiff (PAS) e resistente à digestão da diástase. Os achados clínicos e histopatológicos levaram ao diagnóstico de uma doença genética rara com menos de 300 casos relatados - proteinose lipoide. A ressonância magnética revelou depósitos de cálcio em amígdala cerebral e a nasofaringolaringoscopia revelou lesões em cordas vocais. Atualmente, a paciente está estável e em acompanhamento multidisciplinar, mas nenhum tratamento foi recomendado até o momento.

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.

Lipoidopreoteinose: relato de dois casos e revisão da literatura / Lipoid preoteinosis: report of two cases and review of literature

Lipoidoproteinose é uma genodermatose rara, caracterizada pelo envolvimento multissistêmico por depósito intracelular de material hialino amorfo. É causada por uma mutação no gene ECM1. Clinicamente, os pacientes podem apresentar rouquidão e espessamento cutâneo e mucoso. Uma grande variedade de anormalidades neurológicas pode estar presente quando o sistema nervoso central estiver envolvido.

Ophthalmic Findings of Urbach-Wiethe Disease

This is a rare hereditary disease characterized by hyaline and lipid deposits in the skin and mucous membrane. It starts in infancy or early childhood with hoarseness and swallowing difficulty due to the deposition of the characteristic material in the larynx and pharynx. And then, a skin eruption appears over the face and scalp with bulla, papule, crust and depressed scar forms. A pathognomonic feature is the appearance of translucent papules along free margins of eyelids, giving the appearance of "beads on a string". Other ocular involvement is rare and drusen or degeneration may be seen at the macula. We have observed two cases of Urbach-Wiethe disease in a 7-year-old girl and ll-year-old boy and confirmed by the histopathologic results.

Ophthalmic Findings of Urbach-Wiethe Disease

This is a rare hereditary disease characterized by hyaline and lipid deposits in the skin and mucous membrane. It starts in infancy or early childhood with hoarseness and swallowing difficulty due to the deposition of the characteristic material in the larynx and pharynx. And then, a skin eruption appears over the face and scalp with bulla, papule, crust and depressed scar forms. A pathognomonic feature is the appearance of translucent papules along free margins of eyelids, giving the appearance of "beads on a string". Other ocular involvement is rare and drusen or degeneration may be seen at the macula. We have observed two cases of Urbach-Wiethe disease in a 7-year-old girl and ll-year-old boy and confirmed by the histopathologic results.