title: A syndrome with nodular erythema, elongated and thickened fingers, and emaciation.
abstract: A 5-year-old boy had a nodular erythema, elongated and thickened fingers, and emaciation. His condition was a rare congenital disease inherited as an autosomal recessive trait. Eleven cases have been previously reported in the Japanese literature. The onset is early in childhood, and nodular erythema is an essential and initial finding. Growth retardation and emaciation progress slowly with age. The characteristic clinical features include large eyes, nose, lips, and ears, disproportionately long and thick fingers, and the loss of adipose tissue from the upper half of the body. Cardiomegaly and hypertrophy of the periosteum of the phalanges have been described in some cases.
mesh_terms: D002675:Child, Preschool; D004614:Emaciation / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D004893:Erythema Nodosum / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D005385:Fingers / Q000473:pathology*; D006801:Humans; D008297:Male; D012867:Skin / Q000473:pathology; D013577:Syndrome