You can manage this and all other alerts in my account. Gingival fibromatosis with hypertrichosis genetic and. Juvenile hyaline fibromatosis is a rare, autosomalrecessive disease characterized by papular and nodular skin lesions, gingival hyperplasia, joint contractures. 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. Pdf hyaline fibromatosis syndrome juvenile hyaline fibromatosis. Our case report presents a girl child who was diagnosed with this debilitating condition. Pathology of juvenile hyaline fibromatosis dr sampurna. Hyaline fibromatosis syndrome is the current name for clinical manifestations of. Manal almalik, ziad rehbini, and ali eltayeb 2005 oral manifestations of juvenile hyaline fibromatosis. We report a 4yearold female born of firstdegree consanguineous marriage, presenting with gingival hyperplasia, nodular swellings involving.
It usually affects one or more siblings, initially presenting in children at 2 to 5 years of age 1. Hyalin is a collagenlike substance made by cells in the connective tissue. The documents contained in this web site are presented for information purposes only. Juvenile hyaline fibromatosis jhf is a rare hereditary disorder named by drescher et al. Juvenile hyaline fibromatosis is an autosomal recessive inherited condition characterized by multiple subcutaneous nodules, gingival hypertrophy, diarrhea and recurrent infections that increases morbidity. Inheritance of development of early maturing fusarium wilt resistance. 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. Juvenile hyaline fibromatosis jhf is a rare, autosomalrecessive hereditary disease with distinct clinical and histopathological features. Juvenile hyaline fibromatosis is a rare autosomal recessive connective tissue disease first described in 1873 by murray. The severity of the signs and symptoms of hyaline fibromatosis syndrome fall along a spectrum. 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 jhf is a rare, autosomal recessive disease characterized by papular and nodular skin lesions, gingival hyperplasia, joint contractures and bone involvement in variable degrees. Systemic hyalinosis an overview sciencedirect topics.
The code is valid for the year 2020 for the submission of hipaacovered transactions. Hyaline fibromatosis syndrome is a disorder in which a clear hyaline substance abnormally accumulates in body tissues. The material was paspositive and diastaseresistant. Pdf we describe a case of juvenile hyaline fibromatosis jhf in a turkish child. Rare congenital genetic disorder characterized by popular and nodular skin lesions, soft tissue masses, gingival hypertrophy, and joint contractures of the large. No other cookies than the ones mentioned above are used on our vusarium. Hyaline fibromatosis syndrome hfs is a condition characterized by deposits of a clear substance hyaline in the skin and in various other body tissues.
It is characterized by multiple cutaneous nodules, hypertrophy, gingival. Juvenile hyaline fibromatosis jhf is inherited as a fatal autosomal recessive disorder characterised by multiple tumorous mucocutaneous proliferations. 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. As recently as 1985, only 30 cases had been reported worldwide.
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. Pdf juvenile hyaline fibromatosis in one turkish child. 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. Pdf a case of juvenile hyaline fibromatosis kadriye. Mutations in capillary morphogenesis gene2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. A 37yearold man was seen because of juvenile hyaline fibromatosis that had been present since he was 2 to 3 years old. It has welldefined clinical, microscopic, and ultrastructural features. Introduccion the hyaline fibromatosis juvenile fhj is a rare genetic disease of connective tissue, aldred and crawford 1987.
A rare inherited disease involving tumorlike deposits of a substance called hyaline in body tissues such as skin, gums, joints and bones. Juvenile hyaline fibromatosis jhf is a rare, autosomal recessive hereditary disease. 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. Hfs shows some clinical overlap to farber disease fd, a recessive lysosomal storage disorder. Juvenile hyaline fibromatosis jhf is a rare bone dysplasia, characterized by papulonodular skin lesions especially around the head and neck, soft tissue. Signs and symptoms may be present from birth or begin in later childhood to adolescence. Hyaline fibromatosis syndrome hfs is a rare clinical condition in which biallelic variants in antxr2 are associated with extracellular hyaline deposits. Jaf is caused by aberrant synthesis of glycosaminoglycans by fibroblasts due to a mutation of the capillary morphogenesis factor2 gene cmg2. 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. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. 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. Gingival fibromatosis with hypertrichosis is a genetic condition that can cause profound overgrowth of hair and gums, as well as other variable features. 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.
Juvenile hyaline fibromatosis is a rare form of fibromatous proliferation in children. Anesthetic management you will receive an email whenever this article is corrected, updated, or cited in the literature. It occurs from early childhood to adulthood, and presents as slowgrowing, pearly white or skincolored dermal or subcutaneous papules or nodules on. How can juvenile hyaline fibromatosis be prevented. 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.
There appear to be many different ways to classify fibromatosis. Dermal hyaline material deposition is always found in histopathology. For language access assistance, contact the ncats public information officer. Oral manifestations of juvenile hyaline fibromatosis.
Bibliography juvenile hyaline fibromatosis surgical. Piattelli department of oral medicine and pathology, dental school, university of chieti, chieti, italy. In more severe cases previously diagnosed as infantile systemic. Folpe, in diagnostic surgical pathology of the head and neck second edition, 2009. Only about 40 cases of juvenile hyaline fibromatosis had. Major diagnostic criteria are multiple cutaneous tumors and gingival hypertrophy. Juvenile hyaline fibromatosis and infantile systemic. It is characterized by papulonodular skin lesions, soft tissue masses, gingival hypertrophy, and flexion contractures of the large joints. Diagnosis implications of the whole genome sequencing in a. This autosomal recessive disorder is characterized by aberrant collagen synthesis with deposition of hyaline material in the supporting tissues of the skin.
The underlying cause of gingival fibromatosis with hypertrichosis is. Infantile systemic hyalinosis ish and juvenile hyaline fibromatosis jhf are. Some histological, electron microscopic, and tissue culture observations. Juvenile hyaline fibromatosis is a rare autosomal recessive disease of the connective tissue. Typical diagnostic criteria are multiple hyaline subcutaneous fibroma, filamentous tumors of the skin, gingival hypertrophy, muscle contractures of the extremities and multiple.
The main clinical appearance includes papular and nodular skin lesions, gingival hyperplasia, joint contractures and bone involvement in variable degrees 2. For this condition, a malfunction of collagen synthesis is considered as the pathogenetic cause. Recently published data have revealed an absent band for type iii collagen tiiic. Approximately 40 cases of juvenile hyaline fibromatosis have been reported to date. Juvenile hyaline fibromatosis is one such disorder. 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. If you have problems viewing pdf files, download the latest version of adobe reader. This disorder affects many areas of the body, including the skin, joints, bones, and internal organs. Hyaline fibromatosis syndrome genetic and rare diseases. In this paper a 14 month old girl with jhf is described. Juvenile hyaline fibromatosis is an extremely rare disease of uncertain pathogenesis that affects young children, often with an autosomal recessive pattern of inheritance. A targeted deletion of exon 3 of the antxr2 gene was used as a strategy to generate antxr2mice. Omim 228600 is a rare, autosomal recessive disorder ribeiro et al. It manifests as multiple skin nodules, patchy hyperpigmentation, joint contractures and severe pain with movement.
It typically becomes apparent at birth or in infancy, causing severe pain with movement. A scan of the world literature revealed that less than 70 cases have been reported so far. Genetic, clinical and biochemical characterization of a. A rare hyaline fibromatosis syndrome characterized by papulonodular skin lesions. Juvenile hyaline fibromatosis jhf is an unknown hereditary disorder with variable penetrance. Juvenile hyaline fibromatosis jhf is a rare autosomal recessive disease with onset in infancy or early childhood. We report the case of a 9yearold girl who was diagnosed with jhf at age 3 and has been closely followed since. The historical figure, julia pastrana and her infant son, likely had this syndrome. Fibromatosis is a condition where fibrous overgrowths of dermal and subcutaneous connective tissue develop tumours called fibromas. This condition has not previously been described in the plastic surgery literature.
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. Juvenile hyaline fibromatosis management with a diode. Juvenile byaline fibromatosis is a rare connective tissue disorder, characterized by skin tumours. The light and electron microscopic features are very distinctive. Pdf hyaline fibromatosis syndrome juvenile hyaline fibromatosis is a rare, progressive. Juvenile hyaline fibromatosis jaf is a rare autosomalrecessive disease in which patients progressively develop cutaneous tumoral fibroblastic proliferations, and joint contractures with bone involvement. Pdf the gene for juvenile hyaline fibromatosis maps to. Juvenile hyaline fibromatosis is a rare, autosomalrecessive disease characterized by papular and nodular skin lesions, gingival hyperplasia, joint contractures and bone involvement in variable. The gene for juvenile hyaline fibromatosis maps to chromosome 4q21. The juvenile hyaline fibromatosis jhf is a rare tumorous autosomal recessive disease of the connective tissue. Juvenile hyaline fibromatosis, anal malformation, gingival hypertrophy, osteolitic lesions. Hyaline fibromatosis syndrome genetics home reference nih. Hyaline fibromatosis syndrome hfs, online mendelian inheritance in man 228600 is a rare autosomal recessive condition characterized by deposition of amorphous, hyaline material in skin and visceral organs. In more severe cases previously diagnosed as infantile systemic hyalinosis.