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Related Experiment Video

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Mouse Model of Metabolic Dysfunction-Associated Steatotic Liver Disease with Fibrosis

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Maffucci's Syndrome or a Variant?

Yousuf Aziz Khan¹, Soofia Ahmad

¹Department of Paediatric Surgery, National Institute of Child Health, Karachi- 75510, Pakistan.

APSP Journal of Case Reports

|September 17, 2013

Summary

Maffucci's syndrome, a rare disorder causing enchondromas and haemangiomas, was diagnosed in a 12-year-old boy with limb deformities. This case highlights the syndrome's presentation and diagnostic process.

Area of Science:

Medical Genetics
Orthopedics
Dermatology

Background:

Maffucci's syndrome is a rare, non-hereditary genetic disorder.
It is characterized by the development of multiple enchondromas (benign cartilage tumors) and cutaneous haemangiomas (vascular tumors).

Observation:

A 12-year-old boy presented with a painful right hand swelling and a deformed left upper limb.
Clinical examination revealed multiple enchondromas in the long bones and a single haemangioma.

Findings:

Diagnostic workup confirmed the presence of multiple enchondromas and a haemangioma.
The patient's clinical presentation and diagnostic findings led to a diagnosis of Maffucci's syndrome.

Implications:

This case report contributes to understanding the clinical spectrum of Maffucci's syndrome.

Keywords:

Enchondromas Haemangiomas Maffucci’s syndrome

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