Presentation
History of multiple scalp masses started since the age of 4 years old.
Patient Data
Multiple scalp subcutaneous masses. They elicit low signal on T1 WI, It elicits high signal on T2 with internal low signal. No diffusion restriction. It shows post contrast nodular and patchy enhancement of the lesions. Multiple internal foci of blooming on SWI suggestive of calcifications.
Multiple similar subcutaneous nodules are involving the cheeks and the gingiva.
CT scan of the skull and face shows multiple scalp soft tissue masses showing internal calcific foci. Gingival hypertrophy is noted.
Normal CT scan of the chest.
Right back and bilateral lateral gluteal subcutaneous soft tissue masses.
Otherwise normal CT scan of the chest, abdomen and pelvis.
The 3D VR surface rendering of the skull and face shows multiple scalp and periorbital masses.
Clinical images of the patient.
First image shows multiple scalp and ear subcutaneous lesions.
Second image shows a similar mass on the right side of the back.
Third images shows gingival hypertrophy.
Biopsy of scalp lesion
Histological examination showed: Multiple cores showing extensive hyalinosis, entangling few spindle cells with mild atypia and few proliferated blood vessels.
Diagnosis: Spindle cell proliferation, impressive of fibromatosis.
Case Discussion
Juvenile hyaline fibromatosis, is a very rare autosomal recessive syndrome in infants and childhood characterized by abnormal deposits of hyalinized fibrous material in the skin, subcutaneous soft tissues and gums.
It is listed under fibroblastic and myofibroblastic tumors in the WHO classification of soft tissue tumors.
The main characteristics of juvenile hyaline fibromatosis include subcutaneous nodules and gingival hypertrophy due to abundant hyaline-like deposits.
The subcutaneous tissues, in particular, the scalp, the joints and the gingiva are affected. But it can also involve the myocardium, the gastrointestinal tract, lymphatic tissues as spleen and lymph nodes as well as thyroid or adrenal glands.
Osseous involvement is also common causing osteolytic lesions involving the skull, the long bones and phalanges of the hands and feet.
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