|LETTER TO EDITOR
|Year : 2021 | Volume
| Issue : 2 | Page : 420-421
Juvenile hyaline fibromatosis
Sajad Ahmad Buch1, Shruthi Hegde2, Subhas G Babu2, Shruthi Rao2
1 Consultant, Yenepoya Dental College, Yenepoya (Deemed to be University), Mangalore, Karnataka, India
2 General Dental Practitioner, A B Shetty Memorial Institute of Dental Sciences, NITTE (Deemed to be University), Mangalore, Karnataka, India
|Date of Submission||23-Jul-2019|
|Date of Decision||18-Nov-2020|
|Date of Acceptance||28-Dec-2020|
|Date of Web Publication||18-Oct-2021|
Dr. Sajad Ahmad Buch
Yenepoya Dental College, Yenepoya (Deemed to be University), Mangalore, Karnataka
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Buch SA, Hegde S, Babu SG, Rao S. Juvenile hyaline fibromatosis. J Datta Meghe Inst Med Sci Univ 2021;16:420-1
Juvenile hyaline fibromatosis (JHF) is a rare and progressive autosomal recessive connective tissue disorder. It is characterized by papulonodular lesions on the skin, gingival hyperplasia, contractures of joints, and bone lesions. The skin lesions may involve multiple sites such as head, scalp, ears, lower lips, nose in the form of large cutaneous tumors or nodules. Only five documented cases have been published in India, with approximately 70 cases reported throughout the world. JHF occurs as a result of mutation in the capillary morphogenesis gene 2 on chromosome 4q21. It is diagnosed mainly between early infancy and <5 years in childhood. The disorder is persistent and progressive in its course and most of the patients live only till the fourth decade of life. Only 10 cases have been reported with JHF in adulthood.
A 40-year-old male patient reported with a chief complaint of multiple decayed teeth. The patient had multiple papulonodular lesions all over the body. The patient had developed the swellings on his body when he was 1-year-old. At the age of 8, the swellings increased in number and the patient underwent surgical excision of swellings on back. Over the period of time, the swellings recurred and appeared again all over the body, scalp, face, ears, back, arms, hands, legs, and including on the feet. The patient had been operated for more than eight times over the period of the past 18 years; the recent one being on the right ear and had been on regular follow-up. Histopathology report showed spread-out dermis with homogeneous hyaline (eosinophilic) material with fibroblasts. Spindle- and oval-shaped cell cords were appreciated. General examination revealed multiple tumors over the malar area, scalp and back of the head [Figure 1]a and [Figure 1]b. The recent surgical scar can be appreciated on the right ear [Figure 1]b. Large subcutaneous tumors are seen on the back of the patient [Figure 1]c. Decreased mouth opening due to multiple nodules on mucosal surfaces of the lips; multiple decayed teeth were seen [Figure 1]d. Multiple discrete and confluent subcutaneous tumors can be seen over the palm and back of both the hands [Figure 1]e and [Figure 1]f. The patient was referred for the extraction of root stumps and further endodontic evaluation.
|Figure 1: (a and b) Large nodules on the side of the face and head, (c) Subcutaneous tumors on the back of the patient, (d) Submucosal nodules seen on the lips with decayed teeth, (e and f) Multiple subcutaneous papulonodular lesions on hands|
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Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
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| References|| |
Baltacioglu E, Guzeldemir E, Sukuroglu E, Yildiz K, Yuva P, Aydin G, et al
. Juvenile hyaline fibromatosis: A 10-year follow-up. Indian J Dermatol 2017;62:210-2.
] [Full text]
Ravikumar VR, Veerappan Ramamoorthi RG, Manisankar S. Juvenile hyaline fibromatosis in siblings. Indian J Pathol Microbiol 2019;62:300-2. [Full text]
Dowling O, Difeo A, Ramirez MC, Tukel T, Narla G, Bonafe L, et al
. Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet 2003;73:957-66.
Krishnamurthy J, Dalal BS, Sunila, Gubanna MV. Juvenile hyaline fibromatosis. Indian J Dermatol 2011;56:731-3.
] [Full text]
Slimani S, Haddouche A, Haid S, Ladjouze-Rezig A. Juvenile hyaline fibromatosis: Focus on radiographic features in adulthood. Rheumatol Int 2011;31:273-6.