Clin Exp Otorhinolaryngol.  2010 Jun;3(2):102-106. 10.3342/ceo.2010.3.2.102.

Juvenile Hyaline Fibromatosis

• Park KT
• Chang DY
• Sung MW

• KMID: 1460597
• DOI: http://doi.org/10.3342/ceo.2010.3.2.102

Abstract

Juvenile hyaline fibromatosis (JHF) is a rare, progressive autosomal recessive disease that's characterized by papulonodular skin lesions, soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions. We present here the case of a 2-yr-old boy with JHF along with a review of the relevant literature. This case demonstrates that JHF should be considered in the differential diagnosis when multiple subcutaneous nodules are observed in the face, head and neck.

Keyword

Juvenile; Hyaline; Fibromatosis; Gingiva

MeSH Terms

Contracture
Diagnosis, Differential
Fibroma
Gingiva
Gingival Hypertrophy
Head
Hyalin
Hyalinosis, Systemic
Joints
Neck
Skin

Figure

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  Fig. 1 (A) Note the gingival hypertrophy (black arrow) and nodular lesions at the ends of both lips and the nasolabial folds (white arrow). (B) Multiple osteolytic lesions (arrow) were seen at the skull bone. (C, D) Note the joint contracture and flexion of his 4th and 5th distal interphalangeal joints (arrow).

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  Fig. 2 (A) A nodular lesion with enhancement was located at the submental area. (B) The mandible rami were destroyed by the fibroma. The C1 vertebra showed severe destruction.

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  Fig. 3 (A) Note the preoperative gingival hypertrophy (arrow). (B) The buried teeth were clearly visible after resection of the excessive gingival tissue.

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  Fig. 4 (A) The matrix was positively stained with PAS stain, and elastic tissue was completely absent on the microscopic examination (×400). (B) Ultrathin sectioning showed dermal collagen with fibroblasts in the background of the hyaline material. Ghost cells that lacked a nucleus are shown. Exocytosis of the epidermis was seen on microscopic examination (×400).

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