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Juvenile hyaline fibromatosis: A rare genetic disorder
*For correspondence: sumitatripathy1969@gmail.com
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This article was originally published by Wolters Kluwer - Medknow and was migrated to Scientific Scholar after the change of Publisher.
An eight yr old male child† presented to department of Pathology, MKCG Medical College, Berhampur, India, in September 2019, with multiple, painless, nodular swellings (slow growing, since the last four years) over frontoparietal region of head (Fig. 1) bridge of nose, and the lumbosacral region on the back, with depressed nasal bridge and low set ear. He also had complaints of bilateral gradual movement restriction at elbow and wrist joint and associated gum hypertrophy (Fig. 2). A provisional clinical diagnosis of neurofibromatosis was made. He had stunted growth and normal cognitive development. He was the second child out of non-consanguineous marriage and his elder sibling was normal. In fine needle aspiration cytology (FNAC), aspiration was jelly like. Cytosmear showed few clusters of round to oval cells with small eccentrically placed nucleus (Fig. 3A and B). Few benign looking spindle cells were also present in myxoid looking background. The diagnosis of benign neural tumor was made and biopsy (Fig. 4) was advised. Deep dermis showed well-circumscribed nodules of eosinophilic hyaline homogeneous ground substance with variable cellularity, containing spindle-shaped fibroblasts (Fig. 5). Cells were buried in ground substance giving a chondroid look. Histochemical staining was positive for PAS and Alcian blue. Finally with characteristic history, clinical and histopathology findings, the diagnosis of juvenile hyaline fibromatosis was done. As there is no definite cure and the disease had relentlessly progressive course, supportive treatment in the form of symptomatic treatment, physiotherapy and cosmetic surgery were advised.
- Multiple nodular swellings over nasal bridge and frontotemporal region of head with depressed nasal bridge.
- Gingival hypertrophy.
- (A) Fine-needle aspiration cytology (FNAC) findings-small cluster of round to oval cells in myxoid background ×40. (B) FNAC finding-round to oval and spindle cells ×40.
- Nodular mass 4 × 3 × 2 cm with grey yellow-white cut surface showing some areas with whorling pattern.
- Spindle-shaped fibroblast buried in eosinophilic ground substance giving condroid look (H and E, ×100).
The patient underwent excisional surgery in two settings. After follow up of three months he was under physiotherapy for worsening of movement restrictions. At five months follow up, the patient was wheelchair bound. Due to excessive gum, hypertrophy and difficulty in eating a periodontal consultation have been advised.
Juvenile hyaline fibromatosis is a rare autosomal recessive disorder recently hypothesized to be due to aberrant synthesis of glycosaminoglycans in fibroblasts. With advancement in gene mapping, techniques of antenatal diagnosis are likely to be established.
Conflicts of Interest: None.
