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Congenital hemihypertrophy. Tendency to association with other abnormalities and/or tumors
Insights
Congenital hemihypertrophy, a rare condition affecting one half of the body, frequently presents with numerous associated abnormalities and tumors. This study highlights key diagnostic signs and the high incidence of comorbidities in affected individuals.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Oncology
Background:
- Congenital hemihypertrophy involves overgrowth of one entire side of the body.
- This condition is rare and often associated with significant comorbidities.
- Understanding its presentation and associated risks is crucial for diagnosis and management.
Purpose of the Study:
- To investigate nine cases of congenital hemihypertrophy.
- To analyze associated abnormalities and tumor development in these cases.
- To compare findings with existing literature data.
Main Methods:
- Retrospective case series analysis of nine patients with congenital hemihypertrophy.
- Detailed clinical examination and review of medical records.
- Literature review for comparison and context.
Main Results:
- Left-sided hemihypertrophy was more common (7:2 ratio).
- Females were slightly more affected (5:4 ratio).
- All cases exhibited associated abnormalities, ranging from single to multiple (up to 12).
- Key signs included hemifacial prominence, macroglossia, breast asymmetry, foot gigantism, iris heterochromia, and renal pelvis duplication.
- Three cases presented with tumors: cerebral ependymoma, hepatic hemangioma, hepatoblastoma, and skin angiomas.
Conclusions:
- Congenital hemihypertrophy often presents with a wide spectrum of associated abnormalities.
- Certain physical signs are highly indicative of the condition.
- A notable association with tumor development (including central nervous system and hepatic tumors) exists.
- Comprehensive evaluation for associated conditions and tumors is essential in patients with hemihypertrophy.
Abstract:
Nine cases of congenital hemihypertrophy of an entire half of the body ("true" hemihypertrophy) were investigated in relation to literature data. The left side was more often affected (7:2) and the abnormality was more frequent in females (5:4). Associated abnormalities were present in all cases: a single abnormality in 3 cases (mental retardation, iris heterochromia and, respectively, left foot gigantism) and 3 to 13 abnormalities in the other 6 cases. Prominent hemiface, asymmetric macroglossia on the affected side, unequally developed breasts, unilateral gigantism of the foot, iris heterochromia, duplication of the renal pelvis, were considered important signs which easily draw attention. Out of nine cases investigated, three presented associated tumors: two tumors, one cerebral (malignant ependymoma) and the other hepatic (cavernous hemangioma) in one case, hepatoblastoma in another case, and multiple skin angiomas in the affected side of the third one. The case presenting two tumors had also the greatest number (twelve) of associated abnormalities.