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A syndrome with nodular erythema, elongated and thickened fingers, and emaciation
Insights
This study details a rare congenital disease presenting in a 5-year-old boy with nodular erythema and distinctive physical features. Early childhood onset and autosomal recessive inheritance are key characteristics of this condition.
Area of Science:
- Genetics
- Pediatrics
- Dermatology
Background:
- This report focuses on a rare congenital disorder with autosomal recessive inheritance.
- Previous literature has documented eleven cases, primarily in Japanese medical reports.
Observation:
- A 5-year-old boy presented with nodular erythema, elongated and thickened fingers, and progressive emaciation.
- Key physical findings include large facial features, disproportionately long digits, and loss of subcutaneous fat in the upper body.
Findings:
- Nodular erythema is identified as an essential and initial clinical manifestation.
- Growth retardation and emaciation are progressive over time.
- Associated findings in some cases include cardiomegaly and phalangeal periosteal hypertrophy.
Implications:
- This case expands the understanding of a rare genetic disorder.
- Highlights the importance of recognizing early dermatological signs for timely diagnosis.
- Contributes to the limited case series for this autosomal recessive condition.
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.