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.

Author: Dular Mezile
Country: Libya
Language: English (Spanish)
Genre: Environment
Published (Last): 9 December 2016
Pages: 321
PDF File Size: 5.7 Mb
ePub File Size: 20.90 Mb
ISBN: 571-2-82495-324-5
Downloads: 64046
Price: Free* [*Free Regsitration Required]
Uploader: Zulkiran

The girl had recurrent diarrhea and failure to thrive in the first 2 years of life. By genomewide linkage analysis of 2 unrelated Indian families with hyaline fibromatosis, Rahman et al. Juvenile fibromatosis of the scalp in siblings. Excision in multiple sittings has been planned. We are determined to keep this website freely accessible.

Indian Dermatol Online J ;1: Sitemap What’s New Feedback Disclaimer. Home About Us Advertise Amazon. On three peculiar cases of molluscum fibrosum in one family. Fibroblasts with fibril-filled balls dilated ER with jugenile cisternae containing granular material which displace nearly the entire cytoplasm The same granular material is present in extracellular spaces Weiss, Goldblum, Folpe: Two of the nodules on the scalp were excised when the child was 2 years old.


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. Joint contractures may cripple patients and delay normal motor development if occuring in infancy.

Indian J Dermatol Venereol Leprol ; Please consider making a donation now and again in the future. He died at age 4 years of cardiac arrest.

Fibrous tumors of infancy and childhood. John Murray in Anemia, hypogammaglobulinemia, hypoalbuminemia, electrolyte imbalance. Histopathology analysis of involved tissues reveals fibromatsis of spindle-shaped cells embedded in an amorphous, hyaline material. Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Received Nov; Accepted Jan.

Disease definition Juvenile hyaline fibromatosis JHF is a rare bone dysplasia, characterized by papulo-nodular skin lesions especially around the head and necksoft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. He had a history of pearly and nodular skin lesions, gingival hyperplasia, and joint contractures from the first months of life. Specialised Social Services Eurordis directory.

There was a problem providing the content you requested

Hematological and biochemical investigations were within normal limits. CC ]. Clinical update and phenotype-genotype correlations. There was no gingival hyperplasia or flexion contracture deformities of the limbs.


Juvenile hyaline fibromatosis

Other patients have later onset of a milder disorder affecting only the face and digits. Joint contractures may respond to intralesional systemic steroids fibrommatosis physiotherapy.

Skin biopsy revealed deposition of hyaline. How to cite this article: Landing and Fibrpmatosis suggested autosomal recessive inheritance of infantile systemic hyalinosis since 2 sisters were affected.


National Center for Biotechnology InformationU. Check this box if you wish to receive a copy of your message. We report a 5-year-old female born of first-degree consanguineous marriage who presented with multiple, recurrent, painless, variable-sized nodules.

Case Report 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 ].

The child has normal developmental milestones.

Electron microscopic studies showed increased amorphous mucoid or hyaline material in the skin, with a striking perivascular deposition suggestive of an intravascular origin.