Dermal swellings, joint contractures but no gingival hypertrophy

Dr Ira Shah

doi:https://10.7199/ped.oncall.2017.7

Dermal swellings, joint contractures but no gingival hypertrophy

Dr 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.

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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}.

Fig 1

Fig 2

Fig 3

What is the diagnosis_?

Discussion
Hyaline fibromatosis syndrome. It is the current name for diseases previously known as infantile systemic hyalinosis and juvenile hyaline fibromatosis. It is a rare autosomal recessive disorder that arises from mutation of gene ANTXR2 {anthrax toxin receptor-2}, also known as gene CMG2 {capillary morphogenesis gene2}, located in chromosome 4q21. {1} It has onset in infancy or early childhood and is characterized by papulonodular skin lesions, soft tissue masses, gingival hypertrophy, joint contractures and bone lesions. {2} The skin lesions consist of dermal tumors mainly on scalp and face, papules and plaques on trunk, chin, ears and nostrils. {3} Gingival hypertrophy can be severe enough to interfere with feeding. Joint contractures are seen as flexion contractures of fingers, elbows, hips and knees. {2} This disorder is characterized by production and deposition of unidentified hyaline material in the skin and other organs. {4} The fundamental defect is probably a disturbance in the metabolism of mucopolysaccharides. There is accumulation of both intracellularly and extracellularly of fibrillar glycoprotein complexes. {5} Variation in disease expression is common. Histologic features of skin tumors are characteristic and show an abundance of homogeneous, amorphous ground substance in which spindle-shaped tumor cells with elliptical nuclei are embedded. {6} Mental development and life expectancy are normal. Treatment consists of surgical excision of dermal tumors for functional and aesthetic reasons. However recurrences are common. Contractures can be decreased with capsulotomy, but improvement is transient. {2} Final outcome is a patient with deformities and joint contractures. {2}

Compliance with ethical standards

Funding: None

Conflict of Interest: None

References

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DOI: https://doi.org/10.7199/ped.oncall.2017.7

Cite this article as:
Shah I. Dermal swellings, joint contractures but no gingival hypertrophy. Pediatr Oncall J. 2017;14: 100. doi: 10.7199/ped.oncall.2017.7