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[Hemihypertrophy, nevus sebaceous, multiple bone cysts and cerebroretinal angiomatosis: a complex phakomatosis]
Helvetica Paediatrica Acta
|April 1, 1977
Insights
This report details a rare case of Bonnet-Blanc-Dechaume syndrome in a young girl. The condition manifested as multiple congenital dysplasias, including skin pigmentations and bone abnormalities.
Area of Science:
- Medical Genetics
- Neurology
- Dermatology
Background:
- Phakomatoses are a group of congenital neurocutaneous disorders characterized by abnormalities in the skin, nervous system, and other organs.
- Bonnet-Blanc-Dechaume syndrome is a rare phakomatosis presenting with specific vascular and cutaneous anomalies.
Observation:
- A 6 1/2-year-old girl presented with a constellation of congenital dysplasias.
- Clinical features included congenital cutaneous pigmentations, a scalp fibrolipoma, right leg hypertrophy, and multiple long bone cysts (fibrous dysplasia).
- Ocular and neurological examination revealed an aneurysma racemosum affecting the retina and mid-brain.
Findings:
- The patient's complex presentation aligns with the diagnostic criteria for Bonnet-Blanc-Dechaume syndrome.
- The co-occurrence of diverse dysplasias highlights the systemic nature of this rare phakomatosis.
- Histopathological examination of bone lesions confirmed fibrous dysplasia.
Implications:
- This case underscores the importance of recognizing the varied clinical manifestations of Bonnet-Blanc-Dechaume syndrome.
- Early diagnosis and multidisciplinary management are crucial for patients with phakomatoses.
- Further research into the genetic underpinnings of this syndrome may elucidate pathogenic mechanisms and inform therapeutic strategies.
Abstract:
Report on a girl, who died at the age of 6 1/2 years having exhibited different dysplasias which are characteristic features of several phakomatoses: congenital cutaneous pigmentations, fibrolipoma of the scalp, hypertrophy of the right leg, multiple cysts of the long bones (fibrous dysplasia), and an aneurysma racemosum of the retina and mid-brain (syndrome of Bonnet-Blanc-Dechaume).