Pathology of juvenile hyaline fibromatosis dr sampurna. For language access assistance, contact the ncats public information officer. We report a 4yearold female born of firstdegree consanguineous marriage, presenting with gingival hyperplasia, nodular swellings involving. Juvenile hyaline fibromatosis is a rare, autosomalrecessive disease characterized by papular and nodular skin lesions, gingival hyperplasia, joint contractures and bone involvement in variable.
Gingival fibromatosis is a rare and heterogeneous group of disorders that develop as slowly progressive, local or diffuse enlargements within marginal and attached gingiva or interdental papilla. In more severe cases previously diagnosed as infantile systemic. The light and electron microscopic features are very distinctive. Omim 228600 is a rare, autosomal recessive disorder ribeiro et al. For this condition, a malfunction of collagen synthesis is considered as the pathogenetic cause. Juvenile hyaline fibromatosis management with a diode. The main clinical appearance includes papular and nodular skin lesions, gingival hyperplasia, joint contractures and bone involvement in variable degrees 2. There appear to be many different ways to classify fibromatosis. Juvenile hyaline fibromatosis is an autosomal recessive inherited condition characterized by multiple subcutaneous nodules, gingival hypertrophy, diarrhea and recurrent infections that increases morbidity. The historical figure, julia pastrana and her infant son, likely had this syndrome. Introduccion the hyaline fibromatosis juvenile fhj is a rare genetic disease of connective tissue, aldred and crawford 1987. The gene for juvenile hyaline fibromatosis maps to chromosome 4q21. Signs and symptoms may be present from birth or begin in later childhood to adolescence. Jaf is caused by aberrant synthesis of glycosaminoglycans by fibroblasts due to a mutation of the capillary morphogenesis factor2 gene cmg2.
Juvenile byaline fibromatosis is a rare connective tissue disorder, characterized by skin tumours. A targeted deletion of exon 3 of the antxr2 gene was used as a strategy to generate antxr2mice. A rare hyaline fibromatosis syndrome characterized by papulonodular skin lesions. Juvenile hyaline fibromatosis is an extremely rare disease of uncertain pathogenesis that affects young children, often with an autosomal recessive pattern of inheritance. Piattelli department of oral medicine and pathology, dental school, university of chieti, chieti, italy. Pdf the gene for juvenile hyaline fibromatosis maps to. The characterizations of this disease consist of different signs and symptoms such as multiple tumorous tumorlike mucocutaneous proliferation, gingival hypertrophy, perianal lesions, articular contractures, and osteolytic lesions. The underlying cause of gingival fibromatosis with hypertrichosis is. Pdf hyaline fibromatosis syndrome juvenile hyaline fibromatosis. Juvenile hyaline fibromatosis sahibzada mahmood noor1, muhammad zubair2, rahim bangash3, zubair khan4 abstract juvenile hyaline fibromatosis is a rare, autosomal recessive disease. Juvenile hyaline fibromatosis was first described first described by mc murray in 1873 as molluscum fibrosum and later named juvenile hyaline fibromatosis jhf by drescher et al in 1969.
The juvenile hyaline fibromatosis jhf is a rare tumorous autosomal recessive disease of the connective tissue. In severe cases, the excess tissue may cover the crowns of the teeth, thus causing functional, esthetic, and periodontal problems, such as bone loss and bleeding, due to the presence of. Approximately 40 cases of juvenile hyaline fibromatosis have been reported to date. Hyaline fibromatosis syndrome proposed as an umbrella term for juvenile hyaline fibromatosis and infantile systemic hyalinosis since the two syndromes have significant clinicopathologic overlap j am acad dermatol 2009. Dermal hyaline material deposition is always found in histopathology.
Hyaline fibromatosis syndrome hfs is a condition characterized by deposits of a clear substance hyaline in the skin and in various other body tissues. The term fibromatosis refers to a group of soft tissue tumors which have certain characteristics in common, including absence of cytologic and clinical malignant features, a histology consistent with proliferation of welldifferentiated fibroblasts, an infiltrative growth pattern, and aggressive clinical behavior with frequent local recurrence. Folpe, in diagnostic surgical pathology of the head and neck second edition, 2009. Pdf hyaline fibromatosis syndrome juvenile hyaline fibromatosis is a rare, progressive. Infantile systemic hyalinosis ish and juvenile hyaline fibromatosis jhf are. We report the case of a 9yearold girl who was diagnosed with jhf at age 3 and has been closely followed since. It typically becomes apparent at birth or in infancy, causing severe pain with movement. Anesthetic management you will receive an email whenever this article is corrected, updated, or cited in the literature. Juvenile hyaline fibromatosis is a rare autosomal recessive connective tissue disease first described in 1873 by murray. Juvenile hyaline fibromatosis is one such disorder. Mutations in capillary morphogenesis gene2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. Juvenile hyaline fibromatosis jhf is an unknown hereditary disorder with variable penetrance. Our case report presents a girl child who was diagnosed with this debilitating condition.
Recently published data have revealed an absent band for type iii collagen tiiic. Juvenile hyaline fibromatosis is a rare, autosomalrecessive disease characterized by papular and nodular skin lesions, gingival hyperplasia, joint contractures. How can juvenile hyaline fibromatosis be prevented. Systemic hyalinosis an overview sciencedirect topics. Pdf juvenile hyaline fibromatosis in one turkish child. It manifests as multiple skin nodules, patchy hyperpigmentation, joint contractures and severe pain with movement. In more severe cases previously diagnosed as infantile systemic hyalinosis. A rare inherited disease involving tumorlike deposits of a substance called hyaline in body tissues such as skin, gums, joints and bones. A 37yearold man was seen because of juvenile hyaline fibromatosis that had been present since he was 2 to 3 years old. Typical diagnostic criteria are multiple hyaline subcutaneous fibroma, filamentous tumors of the skin, gingival hypertrophy, muscle contractures of the extremities and multiple. Juvenile hyaline fibromatosis jhf is a rare, autosomalrecessive hereditary disease with distinct clinical and histopathological features. Hyaline fibromatosis syndrome genetic and rare diseases. No other cookies than the ones mentioned above are used on our vusarium. Juvenile hyaline fibromatosis also known as fibromatosis hyalinica multiplex juvenilis, murraypureticdrescher syndrome is a very rare, autosomal recessive disease due to mutations in capillary morphogenesis protein2 cmg2 gene.
The material was paspositive and diastaseresistant. In this paper a 14 month old girl with jhf is described. Hfs shows some clinical overlap to farber disease fd, a recessive lysosomal storage disorder. Juvenile hyaline fibromatosis, anal malformation, gingival hypertrophy, osteolitic lesions. Currently, there are no specific methods or guidelines to prevent juvenile hyaline fibromatosis, since it is a genetic condition genetic testing of the expecting parents and related family members and prenatal diagnosis molecular testing of the fetus during pregnancy may help in. Hyaline fibromatosis syndrome genetics home reference nih. Juvenile hyaline fibromatosis and infantile systemic. Juvenile hyaline fibromatosis is a rare form of fibromatous proliferation in children. Inheritance of development of early maturing fusarium wilt resistance. Fibromatosis is a condition where fibrous overgrowths of dermal and subcutaneous connective tissue develop tumours called fibromas. Hyaline fibromatosis syndrome is the current name for clinical manifestations of. It is characterized by papulonodular skin lesions, soft tissue masses, gingival hypertrophy, and flexion contractures of the large joints. A scan of the world literature revealed that less than 70 cases have been reported so far.
His case illustrates the progressive nature of the disease, and during the years attempts to treat the condition were as mutilating in some cases as the disease itself. This condition has not previously been described in the plastic surgery literature. Pdf we describe a case of juvenile hyaline fibromatosis jhf in a turkish child. Juvenile hyaline fibromatosis pages with reference to book, from 194 to 196 tahir saeed haroon, zohra zaidi department of dermatology, jinnah postgraduate medical centre, karachi. Hyalin is a collagenlike substance made by cells in the connective tissue. Genetic, clinical and biochemical characterization of a.
The documents contained in this web site are presented for information purposes only. Juvenile hyaline fibromatosis jhf is a rare, autosomal recessive disease characterized by papular and nodular skin lesions, gingival hyperplasia, joint contractures and bone involvement in variable degrees. As recently as 1985, only 30 cases had been reported worldwide. This disorder affects many areas of the body, including the skin, joints, bones, and internal organs. Juvenile hyaline fibromatosis jhf is inherited as a fatal autosomal recessive disorder characterised by multiple tumorous mucocutaneous proliferations.
Diagnosis implications of the whole genome sequencing in a. Hyaline fibromatosis syndrome is a disorder in which a clear hyaline substance abnormally accumulates in body tissues. It represents a disease spectrum with infantile systemic hyalinosis ish being the severe form with deaths in the first 2 years of life and juvenile hyaline fibromatosis jhf being the mild form with survival to adulthood. It usually affects one or more siblings, initially presenting in children at 2 to 5 years of age 1. Some histological, electron microscopic, and tissue culture observations. It has welldefined clinical, microscopic, and ultrastructural features. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. If you have problems viewing pdf files, download the latest version of adobe reader. Juvenile hyaline fibromatosis jaf is a rare autosomalrecessive disease in which patients progressively develop cutaneous tumoral fibroblastic proliferations, and joint contractures with bone involvement. Juvenile hyaline fibromatosis is a rare autosomal recessive disease of the connective tissue. Pdf a case of juvenile hyaline fibromatosis kadriye. The code is valid for the year 2020 for the submission of hipaacovered transactions. Juvenile hyaline fibromatosis jhf is a rare autosomal recessive disease with onset in infancy or early childhood. You can manage this and all other alerts in my account.
Only about 40 cases of juvenile hyaline fibromatosis had. Gingival fibromatosis with hypertrichosis genetic and. Major diagnostic criteria are multiple cutaneous tumors and gingival hypertrophy. It is characterized by multiple cutaneous nodules, hypertrophy, gingival. Gingival fibromatosis with hypertrichosis is a genetic condition that can cause profound overgrowth of hair and gums, as well as other variable features. It occurs from early childhood to adulthood, and presents as slowgrowing, pearly white or skincolored dermal or subcutaneous papules or nodules on. Oral manifestations of juvenile hyaline fibromatosis. Hyaline fibromatosis syndrome hfs is a rare clinical condition in which biallelic variants in antxr2 are associated with extracellular hyaline deposits. Manal almalik, ziad rehbini, and ali eltayeb 2005 oral manifestations of juvenile hyaline fibromatosis. We present the case of a 6yearold normal mental developed boy with confluent pearly papules behind the ears and in the paranasal folds, firm nodules of the scalp, the back and metaphalangs, and severe gingival hypertrophy. Juvenile hyaline fibromatosis jhf is a rare hereditary disorder named by drescher et al. Bibliography juvenile hyaline fibromatosis surgical. Rare congenital genetic disorder characterized by popular and nodular skin lesions, soft tissue masses, gingival hypertrophy, and joint contractures of the large.