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| Year : 2011 | Volume
: 54
| Issue : 4 | Page : 838-839 |
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| Juvenile hyaline fibromatosis: A rare lesion |
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Yasmin Altaf Momin, Bhavana Madhukar Bharambe, Grace D'Costa
Department of Pathology, Grant Medical College, Mumbai, Maharashtra, India
Click here for correspondence address and email
| Date of Web Publication | 6-Jan-2012 |
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How to cite this article:
Momin YA, Bharambe BM, D'Costa G. Juvenile hyaline fibromatosis: A rare lesion. Indian J Pathol Microbiol 2011;54:838-9 |
Murray [1] in 1873 described the lesion as molluscum fibrosum which was a synonym used for neuromatosis in children. Synonyms include systemic hyalinosis and disseminated painful fibromatosis. Recently used term juvenile hyaline fibromatosis, was coined by Kitano et al. ,[2] in 1969. Juvenile hyaline fibromatosis (JHF) is characterized by papulo-nodular skin lesions, soft tissue masses, joint contractures, gingival hypertrophy, and osteolytic bone lesions. [3],[4],[5] The accumulation of an amorphous, hyaline material is typical in the skin and the other organs. [3],[4],[5] Only 70 cases have been described in the literature.
Our case was that of a six-year-old child born of non-consanguineous marriage, admitted for multiple, progressively increasing swellings over face, back and scalp since childhood [Figure 1]. No skeletal abnormality was seen. Systemic examination was unremarkable. With a clinical diagnosis of multiple lipomatosis, he underwent surgical intervention. We received multiple well circumscribed, soft to firm, grey white masses largest measuring 3.5 × 0.5 cm. Cut section showed uniform homogenous appearance [Figure 2]. | Figure 1: Multiple congenital and gradually increasing swellings over scalp
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 | Figure 2: Gross photograph showing multiple ill circumscribed, grey white tumor masses with a uniform, homogenous appearance
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Histopathological examination showed a hypocellular lesion with spindle-shaped cells embedded in abundant homogenous, amorphous, eosinophilic, hyaline [Figure 3], periodic acid schiff (PAS) positive diastase resistant material. Many cells had vacuolated cytoplasm with nuclei lying in lacunae giving it a pseudochondroid appearance [Figure 4]. We rendered a diagnosis of juvenile hyaline fibromatosis. Panel of IHC showed vimentin positive [Figure 5], smooth muscle actin (SMA) negative, and S-100 negative, which confirmed our diagnosis. | Figure 3: Hypocellular areas with spindle-shaped cells embedded in abundant homogenous matrix (hematoxylin and eosin, ×10)
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 | Figure 4: Cells having vacuolated cytoplasm with nuclei lying in lacunae giving a pseudochondroid appearance (hematoxylin and eosin, ×40)
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 Discussion | |  |
Family history of consanguineous marriage is significant. [3] Its onset is in infancy or early childhood with a range of two to five years. The most commonly affected sites are the nose, chin, ears, scalp, back, and knees. [4] Our index case was six-year-old lad, born of a non-consanguineous marriage and had multiple subcutaneous nodules with no skeletal abnormality. Light microscopic examination of skin lesions characteristically show paucity of cells and abundance of a homogenous, amorphous, eosinophilic extracellular matrix in which spindle-shaped cells are embedded. [3],[4],[5] Many cells show ghost cell/pseudochondroid appearance. Our index case showed similar histological picture. Osteoclast-like giant cells and calcification with psammoma bodies can be noted. Early lesions are cellular with little matrix, whereas older lesions show prominent ground substance with less cellular areas. [3],[4],[5] Immunohistochemically, the spindle-shaped cells are vimentin-positive but negative for alpha-smooth muscle actin and S-100 protein, and the hyaline ground substance is positive for type I and type III collagen but negative for type II and type IV collagen and tenascin. [3],[4],[5] Immunohistochemistry (IHC) confirmed our diagnosis. Infantile systemic hyalinosis shows similar histological features with a varying clinical picture. Some authors have stated that both represent two ends of spectrum. Infantile myofibromatosis is other close differential and differences between these three conditions are tabulated in [Table 1].
Although mode of treatment is surgical excision, prognosis is determined by number, size, location, and degree of functional impairment. Local recurrence rate is high. [5] A single case showed an association of squamous cell carcinoma. There is no follow-up of our index case till date.
| Acknowledgment | | |
Altafhusen A. Momin, Assistant Commissioner of Police, DGP Office, Colaba, Mumbai, India.
| References | | |
| 1. | Murray J. Three lenticular cases of molluscum fibrosum in children. Med Chir Trans 1873;38:235. 
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| 2. | KitanoY, Honki M, Aoki T, Sagami S. Two cases of juvenile hyaline fibromatosis some histological, electron microscopy and tissue culture observation. Arch Dermatol 1972;106:877-83.
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| 3. | Yayli S, Uncu S, Alpay K, Yildiz K, Cimsit G, Bahadir S. A case of juvenile hyaline fibromatosis. J Dermatol 2006;33:260-4.
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| 4. | Malathi BG, Prabha CV, Padma SR, Muley PR, Jaychandran P. Juvenile hyaline fibromatosis-a rare case report. Indian J Pathol Microbiol 2006;49:257-9.
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| 5. | Ribeiro SL, Guedes EL, Botan V, Barbosa A, Freitas EJ. Juvenile hyaline fibromatosis: A case report and review of the literature. Acta Rheumatol Port 2009;34:128-33.
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Correspondence Address:
Yasmin Altaf Momin
Department of Pathology, 903, Dreamland, sector 19, Plot 35, Navi Mumbai, Maharashatra
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0377-4929.91546
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]
[Table 1] |
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