The patient was a 25yearold man, the first of 3 children, born of unrelated parents in france. Pdf juvenile hyaline fibromatosis murraypureticdrescher. Diagnosis implications of the whole genome sequencing in. Gingival fibromatosis with hypertrichosis genetic and rare. The patient may also have hypertrophic gingivae, osteolytic bone lesions, and stunted growth, with normal mental development. Approximately 40 cases of juvenile hyaline fibromatosis have been reported to date. 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. It is characterized by abnormal growth of hyalinized fibrous tissue with. A 21monthold japanese boy with puretic syndrome gingival fibromatosis with hyaline fibromas was reported. A 37yearold man was seen because of juvenile hyaline fibromatosis that had been present since he was 2 to 3 years old. Mar 17, 2021 juvenile hyaline fibromatosis jhf is a rare bone dysplasia, characterized by papulonodular skin lesions especially around the head and neck, soft tissue. Juvenile hyaline fibromatosis jhf is a rare, autosomalrecessive hereditary disease with distinct clinical and histopathological features. Hfs is a rare autosomal recessive disorder of the connective tissue caused by mutations in the gene for anthrax toxin receptor. Hyaline fibromatosis syndrome is a disorder in which a clear hyaline substance abnormally accumulates in body tissues.
Create an account never doubt that a small group of thoughtful, committed citizens can change the world. She had contractures of elbows, knees and shoulder joints, restrictingthe movements of these joints. It represents a disease spectrum with infantile systemic hyalinosis ish being the severe form and juvenile hyaline fibromatosis jhf being the mild form. It is a connective tissue disorder with aberrant synthesis of glycosaminoglycans by fibroblasts. All parameters of the cell cultures were investigated also in cell free cultivated. The juvenile hyaline fibromatosis jhf is a rare tumorous autosomal recessive disease of the connective tissue. Surgery may allow some recovery of function, but recurrence is possible. Gingival fibromatosis with hypertrichosis is a genetic condition that can cause profound overgrowth of hair and gums, as well as other variable features. Download fulltext pdf download fulltext pdf read fulltext. Hyaline fibromatosis syndrome hfs is rare autosomal recessive disease characterized by the deposition of amorphous hyaline material in skin and visceral organs. The severity of the signs and symptoms of hyaline fibromatosis syndrome fall along a spectrum. The lesions appear as pearly papules or fleshy nodules. This page was last edited on 19 novemberat juvenile hyaline fibromatosis fibromatodis siblings. Signs and symptoms may be present from birth or begin in later childhood to adolescence.
There is a tumor free grenz zone between the epidermis and the lesional tissue. It is characterized by papulonodular skin lesions, soft tissue masses, gingival hypertrophy, osteolytic bone lesions and flexion contractures of the large joints. Hyaline fibromatosis syndrome hfs is characterized by hyaline deposits in the papillary dermis and other tissues. The underlying cause of gingival fibromatosis with hypertrichosis is. 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. Less than 70 cases of jhf have been reported worldwide and extremely few from india. Jan 07, 2016 hyaline fibromatosis syndrome hfs is a condition characterized by deposits of a clear substance hyaline in the skin and in various other body tissues. Sanzalin h, kiyozuka y, uemura y, shikata n, ueda s, tsubura a. Some individuals present in infancy and have additional visceral or systemic involvement.
Juvenile hyaline fibromatosis is a rare autosomal recessive disease of the connective tissue. Improved understanding regarding the cause, will likely aid in distinguishing these syndromes in the future. Hyaline fibromatosis syndrome hfs is the unifying term for infantile systemic hyalinosis and juvenile hyaline fibromatosis. Sep 27, 2019 juvenile hyaline fibromatosis or infantile systemic hyalinosis. Juvenile hyaline fibromatosis management with a diode. View the article pdf and any associated supplements and figures for a period of 48 hours.
Unlimited viewing of the articlechapter pdf and any associated supplements and figures. Juvenile hyaline fibromatosis or infantile systemic hyalinosis. Ijms free fulltext enhanced collagen deposition in the. Systemic hyalinosis an overview sciencedirect topics. The historical figure, julia pastrana and her infant son, likely had this syndrome. Major diagnostic criteria are multiple cutaneous tumors and gingival hypertrophy. Juvenile hyaline fibromatosis murraypureticdrescher syndrome. Juvenile hyaline fibromatosis is a rare disorder of glycosaminoglycan synthesis which is characterized clinically by skin papules or tumors, gingival enlargement. On the basis of the present case and 17 cases in the literature, it was concluded. One of the main features of hyaline fibromatosis syndrome is the growth of noncancerous masses of tissue nodules under the skin, very commonly on the scalp. Juvenile hyaline fibromatosis is a rare, autosomalrecessive disease characterized by papular and nodular skin lesions, gingival hyperplasia, joint contractures and bone involvement in variable degrees. Juvenile hyaline fibromatosis mayo clinic proceedings.
It typically becomes apparent at birth or in infancy, causing severe pain with movement. This article is within the scope of wikiproject medicine, which recommends that medicinerelated articles follow the manual of style for medicinerelated articles and that biomedical information in any article use highquality medical sources. Juvenile hyaline fibromatosis krishnamurthy j, dalal bs. 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 autosomal recessive disease of the connective tissue. Cutaneous soft tissue tumors illustrated edition pdf free.
Pathological findings grossly, the nodules were of variable sizes and grayishwhite, and the cut surface showed a. Manifestations can be debilitating, and patients typically present with decreased joint mobility, gingival hypertrophy, nodular skin lesions, papulonodular skin lesions and. Succinylcholine resistance in a patient with juvenile hyaline. We report on a sister and a brother born to normal consanguineous parents with joint contractures and osteolytic lesions of bones. Puretic syndrome hyalinosis, systemic juvenile, murraypuretic syndrome, and molluscum fibrosus are known synonyms of juvenile hyaline fibromatosis. Juvenile hyaline fibromatosis is an extremely rare disease of uncertain pathogenesis that affects young children, often with an autosomal recessive pattern of inheritance. This succinct, yet meaningful, field guide deconstructs all presentations in one easytoread and comprehensive text.
Pdf hyaline fibromatosis syndrome juvenile hyaline fibromatosis. Juvenile hyaline fibromatosis and infantile systemic hyalinosis sandra hanks, 1sarah adams,1 jenny douglas, laura arbour,2 david j. Cutaneous soft tissue tumors illustrated edition pdf free download. Low magnification shows juvenile hyaline fibromatosis of the face in the deep dermis.
Pdf mutations in capillary morphogenesis gene2 result in. Succinylcholine resistance in a patient with juvenile hyaline fibromatosis anesthesiology november 1997 autologous transplantation of endothelial progenitor cells attenuates acute lung injury in rabbits. He gradually lost the ability to walk because of bilateral knee deformity and clubfoot. The sister had also gingival hyperplasia and skin lesions consisting of multiple tumors of the face, nose, palate, ears, and neck. Some histological, electron microscopic, and tissue culture observations. Flexion contractures, the most disabling feature of juvenile hyaline fibromatosis, are not found in congenital generalized fibromatosis. We report a 4yearold female born offirstdegree consanguineous marriage, presenting with gingival hyperplasia, nodular swellings involvingthe both pinna and right ankle joint. Juvenile hyaline fibromatosis, infantile systemic hyalinosis, hyaline fibromatosis syndrome. Hyaline fibromatosis syndrome juvenile hyaline fibromatosis. As the fibrous progressive fibrous enlargement of the hyperplasia is significantly enhanced by poor gingiva is a feature of idiopathic fibrous oral hygiene, periodontitis may be associated hyperplasia of the gingiva. This disorder affects many areas of the body, including the skin, joints, bones, and internal organs.
We present a case of 4yearold girl who presented with multiple painless nodular masses on the scalp. Juvenile hyaline fibromatosis jhf is a rare autosomal recessive disease. A 19year followup of multiple juvenile fibromatosis. Juvenile hyaline fibromatosis jhf is a rare disease characterised by tumorous skin lesions with the onset in early infancy, joint contractures, thickening of the gums, bone lesions, and tumorous involvement of internal organs. This condition has not previously been described in the plastic surgery literature. Juvenile hyaline fibromatosis management with a diode laser. In the extremities, lesions may remain quiescent or gradually increase in size, eventually resulting in skin ulceration. Atypical presentation of juvenile hyaline fibromatosis of. It can present at birth or in infancy with severe pain with movement, progressive joint contractures, and often with severe motor disability, thickened skin, and hyperpigmented maculespatches over bony prominences of the joints. Mutations in the gene encoding capillary morphogenesis. Pdf juvenile hyaline fibromatosis jhf is a rare, progressive autosomal recessive disease thats characterized by papulonodular skin. It occurs from early childhood to adulthood, and presents as slowgrowing, pearly white or skincolored dermal or subcutaneous papules or nodules on.
All parameters of the cell cultures were investigated also in cell free cultivated medium. Other entities that present in infancy and childhood include fibrous hamartoma of infancy, fibromatosis colli, infantile digital fibromatosis, calcifying aponeurotic fibroma. From omim hyaline fibromatosis syndrome is an autosomal recessive condition characterized by abnormal growth of hyalinized fibrous tissue usually affecting subcutaneous regions on the scalp, ears, neck, face, hands, and feet. Puretic syndromegingival fibromatosis with hyaline. Juvenile hyaline fibromatosis jhf is an extremely rare autosomal recessive disease with less than a hundred cases reported worldwide and is more prevalent in the middle east due to higher rates of interfamilial marriages. Juvenile hyaline fibromatosis jhf is an extremely rare autosomal recessive disease with less than a hundred cases reported worldwide and. Succinylcholine resistance in a patient with juvenile. The initial prognosis is poor but the disease is not fatal. There is a tumorfree grenz zone between the epidermis and the lesional tissue. Juvenile hyaline fibromatosis jhf mim 228600 and develop several associated features, including multiple infantile. Department of oral medicine and pathology, dental school, university of chieti, chieti, italy.
A scan of the world literature revealed that less than 70 cases have been reported so far. Juvenile hyaline fibromatosis jhf is a rare disease characterised by. 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. Case presentation the rehabilitation of three siblings figure 1. Bedford cd, sills ja, sommeletolive d, boman f, beltramo f, cornu g. Oct 17, 2018 how can juvenile hyaline fibromatosis be prevented. Gingival fibromatosis with hypertrichosis genetic and. Please visit the project page for details or ask questions at wikipedia talk. Juvenile hyaline fibromatosis anesthesiology american. The signs and symptoms of gingival fibromatosis with hypertrichosis overlap with a number of other gum overgrowth syndromes, such as laband syndrome, juvenile hyaline fibromatosis and jones syndrome. In earlier literature hfs was commonly subdivided into either the milder form, juvenile hyaline fibromatosis, or the more severe and lifelimiting form, infantile.
Citeseerx document details isaac councill, lee giles, pradeep teregowda. It is characterized by abnormal growth of hyalinized fibrous tissue with cutaneous, mucosal, osteoarticular, and systemic involvement. Juvenile hyaline fibromatosis is a rare, autosomal recessive disease. Pdf hyaline fibromatosis syndrome juvenile hyaline fibromatosis is a rare, progressive, autosomal recessive disorder whose main hallmark is the. Juvenile hyaline fibromatosis is a rare disorder of connective tissue which is associated with abnormal synthesis of hyaline, a collagen like substance. Histologic examination showed findings of juvenile hyaline fibromatosis. Puretic syndromegingival fibromatosis with hyaline fibromas.
Juvenile hyaline fibromatosis jhf is a rare, autosomal recessive disease. Folpe, in diagnostic surgical pathology of the head and neck second edition, 2009 clinical features. Jun 22, 2017 hyaline fibromatosis syndrome hfs is rare autosomal recessive disease characterized by the deposition of amorphous hyaline material in skin and visceral organs. The main features were early thickening and focal nodularity of the skin. Hyaline fibromatosis syndrome genetic and rare diseases. Sorry, we are unable to provide the full text but you may find it at the following locations. Juvenile hyaline fibromatosis is a rare syndrome characterized by onset in early life and the presence of numerous dermal and subcutaneous nodules with unique histologic features. Juvenile hyaline fibromatosis is a rare autosomal recessive connective tissue disease first described in 1873 by murray. According to quantitative biochemical evaluation, the speed of type i and iii collagens was normal 3. Juvenile hyaline fibromatosis jhf is a rare, autosomal recessive disease characterized by early onset papulonodular skin lesions, soft tissue masses. Biomarker for hyaline fibromatosis syndrome biohfs full. Typical diagnostic criteria are multiple hyaline subcutaneous fibroma, filamentous tumors of the skin, gingival hypertrophy, muscle contractures of the extremities and multiple. Mar, 2021 juvenile hyaline fibromatosis is a rare disorder characterized by an extracellular accumulation of hyaline deposit. Juvenile hyaline fibromatosis jhf is a rare, progressive autosomal recessive disease thats characterized by papulonodular skin lesions, soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions.
A 27yearold african american man presented to an orthopedic surgeon with a painful mass on his left fourth toe, which impaired ambulation. Juvenile hyaline fibromatosis jhf is an unknown hereditary disorder with variable penetrance. Landing and nadorra 1986 described a condition, which they called infantile systemic hyalinosis, in 4 female mexicanamerican infants, including 2 sibs. Hyaline fibromatosis syndrome hfs is a condition characterized by deposits of a clear substance hyaline in the skin and in various other body tissues. Biomarker for hyaline fibromatosis syndrome biohfs. Juvenile hyaline fibromatosis jhf is a rare bone dysplasia, characterized by papulonodular skin lesions especially around the head and neck, soft tissue.
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