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: Guktilar Tagar
Country: Russian Federation
Language: English (Spanish)
Genre: Sex
Published (Last): 23 June 2018
Pages: 266
PDF File Size: 10.77 Mb
ePub File Size: 13.69 Mb
ISBN: 462-8-27235-765-8
Downloads: 42037
Price: Free* [*Free Regsitration Required]
Uploader: Mazukazahn

The nodules over the back, scalp, ear lobule and lower lip were excised in multiple sittings and sent for histopathological examination.


A scan of firbomatosis world literature revealed that less than 70 cases have been reported so far. Check this box if you wish to receive a copy of your message.

Juvenile hyaline fibromatosis and infantile systemic hyalinosis. Infantile systemic hyalinosis or juvenile hyaline fibromatosis? Expert curators review the literature and organize it to facilitate your work. Autosomal recessive juveniefibrillary matrixglycosaminoglycansJuvenile hyaline fibromatosisPeriodic acid Schiff. A number sign is hyalime with this entry because hyaline fibromatosis syndrome HFS is caused by homozygous or compound heterozygous mutation in the gene encoding capillary morphogenesis protein-2 CMG2, or ANTXR2; on chromosome 4q The tumor masses vary in size from 1 mm to about 5 cm.

A case report follow-up after 3 years and a review of the literature.

Juvenile hyaline fibromatosis and infantile systemic hyalinosis: Indian J Dermatol Venereol Leprol. Additional features include gingival kuvenile, progressive joint contractures resulting in severe limitation of mobility, osteopenia, and osteoporosis.

A year follow-up of multiple juvenile fibromatosis.

Fibrmatosis need long-term secure funding to provide you the information that you need at your fingertips. Support Center Support Center. CC ].


But, there was recurrence at the same site. Joint contractures may respond to intralesional systemic steroids and physiotherapy. John Murray in Mutations in the capillary morphogenesis factor -2 gene have also been described.

Juvenile hyaline fibromatosis – Wikipedia

The lesions were first noticed when the child was 6 months old and, since then, the nodules gradually increased in size. He had a history of pearly and nodular skin lesions, gingival hyperplasia, and joint contractures from the first months of life.

X-ray films showed numerous osteolytic and osteoclastic lesions of the skeleton. Aldred and Crawford gave a comprehensive review of 23 cases of juvenile hyaline fibromatosis from 17 families.

While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions. These authors described the disorder as molluscum fibrosum. Large ulcerated nodules on back. PAS diastase resistantAlcian blue Fibroblasts: Infants or children under 5 years No ethnic predisposition Rheumatol Int ; Smuscle specific actin Am J Dermatopathol ; We report a 1-year-old girl with typical facial lesions, joint contractures and mild gingival hyperplasia without history of diarrhea and recurrent infections.

Accessed December 31st, Murray-Puretic-Drescher syndrome Puretic syndrome Prevalence: Fine needle aspiration cytology smears and the subsequent histopathological examination from the nodules showed benign spindle cells in a Periodic acid Schiff-positive myxoid background. Click here for information on linking to our website or using our content or images.


The parents of 1 of the children were consanguineous. Retrieved from ” https: Images hosted on other servers: Case report and review of the literature. There is no presently known curative treatment for this condition.


The last patient was a year-old man who was wheelchair-bound due to postural deformity and severe contractures of multiple joints. The matrix stains positively with PAS and alcian blue but does not stain with toluidine blue or congo red. Poorly circumscribed amorphous or nodular deposits of abundant, hyaline material with embedded fibroblasts in cords Can have retraction artifact around fibroblasts Early lesions are characterized by increased cellularity No atypia, no necrosis.

Occasional nodules reveal marked calcification. This gene is also known as capillary morphogenesis protein By using this site, you agree to the Terms of Use and Privacy Policy.

Kitano reported an affected boy who was born of consanguineous parents, suggesting autosomal recessive inheritance. They are slow growing and painless and have a tendency to recur following excision,[ 4 ] as was seen in the present case.

Indian Dermatol Online J ;1: Suschke and Kunze considered the condition to be a mucopolysaccharidosis. On examination, the lesions consisted of multiple papules and nodules of varying sizes. 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.

Indian J Dermatol ; Infantile systemic hyalinosis in siblings: 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.