RESUMEN
BACKGROUND: Juvenile hyaline fibromatosis and infantile systemic hyalinosis are two rare autosomal recessive diseases arising from mutation in the capillary morphogenesis factor-2 gene. They are characterized by accumulation of hyaline material, in the skin in the first instance and in other organs in the second. We describe a case of juvenile hyaline fibromatosis. CASE REPORT: A 2-year-old girl presented gingival hyperplasia, skin papules, subcutaneous nodules and joints and bones lesion. A diagnosis of juvenile hyaline fibromatosis was suggested and this was confirmed by histopathology and genetic analyses. The patient presented frequent episodes of diarrhoea, which is evocative of infantile systemic hyalinosis. DISCUSSION: This case clearly illustrates the wide phenotypic range of juvenile hyaline fibromatosis. Diagnosis must be made as soon as possible to avoid cosmetic and functional handicap.
Asunto(s)
Fibromatosis Gingival/patología , Artropatías/patología , Proteínas de la Membrana/genética , Enfermedades de la Piel/patología , Preescolar , Consanguinidad , Estreñimiento/etiología , Diagnóstico Diferencial , Diarrea/etiología , Femenino , Fibromatosis Gingival/diagnóstico , Fibromatosis Gingival/genética , Fibromatosis Gingival/metabolismo , Genes Recesivos , Humanos , Hialina/química , Artropatías/diagnóstico , Artropatías/genética , Artropatías/metabolismo , Proteínas de la Membrana/deficiencia , Marruecos/etnología , Fenotipo , Receptores de Péptidos , Prolapso Rectal/etiología , Prolapso Rectal/cirugía , Enfermedades de la Piel/diagnóstico , Enfermedades de la Piel/genética , Enfermedades de la Piel/metabolismoRESUMEN
Dermoid cysts of the oral cavity usually present as a solitary, painless mass in the midline or, on occasion, more laterally in the submandibular region. A patient is described who presented with a mass in the submandibular region, which could be made to appear or disappear at will. This unusual manifestation occurred as the cyst plunged around the posterior border of the mylohyoid on tensing the floor of the mouth.