Grand Rounds

Dermal swellings, joint contractures but no gingival hypertrophy

Ira Shah
Medical Sciences Department, Pediatric Oncall, Mumbai, India.

Address for Correspondence: Dr Ira Shah, 1, B Saguna, 271, B St Francis Road, Vile Parle {W}, Mumbai 400056.

Clinical Problem:
An 18 month old girl born of third degree consanguineous marriage presented with gradual restriction of movements in both the limbs for 6 months. Patient had flexion contractures of both ankles, knees, hips, elbows and limitation of movements of the spine. Pink confluent papules were present on both the ears. Bilateral parietal non-tender fluctuant swellings were seen over the scalp, which were non-transilluminant and progressively increasing in size {Fig 1}. Patient had a mental delay with social quotient of 33. There was no gingival hypertrophy. Skeletal radiography showed joint contractures without any lytic or sclerotic lesion. CT scan of brain revealed soft tissue swelling over both parietal bones. {Fig 2} Histologic examination of skin biopsy of the parietal mass by light microscopy showed minimal hyperkeratosis with entire dermis showing eosinophilic homogenous ground substance with numerous fibroblasts with pericellular halo {Fig 3}.

What is the diagnosis_?

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