Juvenile hyaline fibromatosis (JHF) is a rare bone dysplasia, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue. Soft tissue. Fibroblastic / myofibroblastic tumors. Juvenile hyaline fibromatosis. Author: Lauren N. Stuart M.D., M.B.A.. Editor: Jerad M. Gardner. Juvenile hyaline fibromatosis is a very rare, autosomal recessive disease due to mutations in capillary morphogenesis protein-2 (CMG-2 gene). It occurs from.
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Mutations in the capillary morphogenesis factor -2 gene have also been described.
The main features were early thickening and focal nodularity of the skin leading to reduced movement and joint contractures, gum hypertrophy, and osteoporosis. Amorphous hyaline matrix in dermis with fibroblasts. By genomewide linkage analysis of 2 unrelated Indian families with hyaline fibromatosis, Rahman et al.
Some individuals present in infancy and have additional visceral or systemic involvement, which can lead to early death. Clinical Synopsis Toggle Dropdown. The authors concluded that their findings supported the hypothesis of autosomal recessive inheritance of this condition.
Case report and review of the literature. CCC ].
Additional information Further information on this disease Classification s 6 Gene s 1 Clinical signs and symptoms Publications in PubMed Other website s 6. A further report on the remarkable series of cases of molluscum fibrosum in children communicated to the society by Dr. They are slow growing and painless and have a tendency to recur following excision,[ 4 ] as was seen in the present case.
Juvenile hyaline fibromatosis or infantile systemic hyalinosis: Sign up for our Email Newsletters. The parents of 1 of juvvenile children were consanguineous. Pathological findings Grossly, the nodules were of variable sizes and grayish-white, and the cut surface showed a gelatinous grey-white appearance [ Figure 3 ].
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Indian J Dermatol Venereol Leprol ; Juvenie hyaline fibromatosis Autosomal recessive hyailne is the inheritance manner of this condition Juvenile hyaline fibromatosis also known as “Fibromatosis hyalinica multiplex juvenilis,”  “Murray—Puretic—Drescher syndrome”  is a very rareautosomal recessive disease due to mutations in capillary morphogenesis protein-2 CMG-2 gene.
X-ray films showed numerous osteolytic ujvenile osteoclastic lesions of the skeleton. Images hosted on other servers: Find articles by Jayashree Krishnamurthy.
Summary and related texts. Ishikawa and Hori described a 2.
JUVENILE HYALINE FIBROMATOSIS
Nodules with gelatinous surface. Electron microscopic studies showed increased amorphous mucoid or hyaline material in the skin, with a striking perivascular deposition suggestive of an intravascular origin. Large ulcerated nodules on back.
Please consider making a donation now and again in the future. Capillary morphogenesis gene 2 mutations, hyaline fibromatosis syndrome, infantile systemic hyalinosis, juvenile hyaline fibromatosis. Find articles by Bibhas Saha Dalal. The nodules over the back, scalp, ear lobule and lower lip were excised in multiple sittings and sent for histopathological examination.
Juvenile hyaline fibromatosis
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Autosomal recessive pattern is the inheritance manner of this condition. Juvenile fibromatosis of the scalp in siblings. Accessed December 31st, We report a 5-year-old female born of first-degree consanguineous marriage who presented with multiple, recurrent, painless, variable-sized nodules over the scalp, back, ear lobules and lower lip [ Figure 1 ].
Pathology Outlines – Juvenile hyaline fibromatosis
The proband also showed deformity of the face and skull, stunted growth, osteolysis of terminal phalanges, multiple large subcutaneous nodes, some calcified, dysseborrheic, sclerodermiform and atrophic changes of the skin, recurrent suppurative infections of the skin, eyes, nose and ears, and gingival fibromatosis. You can help Wikipedia by expanding it. Fibromatoiss Wikipedia, the fibromatosks encyclopedia. Anemia, hypogammaglobulinemia, hypoalbuminemia, electrolyte imbalance. Views Read Edit View history.
Mutations in capillary morphogenesis gene 2 gene is responsible for both these conditions. Check this box if you wish to receive a copy of your message. Juvenile hyaline fibromatosis and infantile systemic hyalinosis.
How to cite this URL: Infants or children under 5 years No ethnic predisposition Rheumatol Int ; Severe gingival hyperplasia can interfere with eating and delay dentition. Systematisierte Hyalinose in Zusammenhang mit Epidermolysis bullosa polydystrophica juvsnile hyalinosis cutis et mucosae.
The condition was probably first described by Nezelof et al. The child has normal developmental milestones. Sitemap What’s New Feedback Disclaimer. Both also had gingival hyperplasia and joint contractures. Related articles Capillary morphogenesis gene 2 mutations hyaline fibromatosis syndrome hyapine systemic hyalinosis juvenile hyaline fibromatosis.
Juvenile hyaline fibromatosis JHF is a rare bone dysplasia, characterized by papulo-nodular skin lesions especially around the head and necksoft fibtomatosis masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees.