Juvenile hyaline fibromatosis jhf is an unknown hereditary disorder with variable penetrance. Juvenile hyaline fibromatosis is a rare disease whose in heritance follows the. Genetic, clinical and biochemical characterization of a large cohort. Hyaline fibromatosis syndrome is a disorder in which a clear hyaline substance abnormally accumulates in body tissues. Puretic syndromegingival fibromatosis with hyaline fibromas. Infantile systemic hyalinosis or juvenile hyaline fibromatosis. We demonstrate the benefits surgical intervention, for treatment of gingival hypertrophy, can bring to the patient and outline the other features of this rare condition. Juvenile hyaline fibromatosis is a rare, autosomalrecessive disease characterized by papular and nodular skin lesions, gingival hyperplasia, joint contractures and bone involvement in variable. Anesthetic management you will receive an email whenever this article is corrected, updated, or cited in the literature. Major diagnostic criteria are multiple cutaneous tumors and gingival hypertrophy.
It manifests as multiple skin nodules, patchy hyperpigmentation, joint contractures and severe pain with movement. The main clinical appearance includes papular and nodular skin lesions, gingival hyperplasia, joint contractures and bone involvement in variable degrees 2. A case of juvenile hyaline fibromatosis in a tenyearold asian girl is presented. Oral manifestations of juvenile hyaline fibromatosis. Hyaline fibromatosis syndrome hfs is a rare clinical condition in which. Juvenile hyaline fibromatosis and infantile systemic hyalinosis are rare conditions of unknown origin characterized by delayed growth, gingival hypertrophy, papular skin lesions, and joint deformity. Recur rent suppurative infections, affecting skin, eyes, nose, and ears, have been reported. Both disorders may show clinical overlapping, suggesting that they might represent different variants of. The main features were early thickening and focal nodularity of the skin. Juvenile hyaline fibromatosis jhf equally affects both sexes and is commonly diagnosed during early childhood. Juvenile hyaline fibromatosis jhf is a rare hereditary disease with an autosomal recessive transmission. We report the case of a 9yearold girl who was diagnosed with jhf at age 3 and has been closely followed since. Juvenile hyaline fibromatosis is a rare autosomal recessive disease of the connective tissue.
Juvenile hyaline fibromatosis is listed as a rare disease by the office of rare diseases ord of the national institutes of health nih. 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 characterized by early onset papulonodular skin lesions, soft tissue masses, joint. Pdf, epub, full text, audio unceasing customer service track. Juvenile hyaline fibromatosis inherited systemic hyalinosis is a rare, autosomal recessive and hereditary disease with distinct clinical and histopathological features. 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. It is characterized by papulonodular skin lesions, soft tissue masses, gingival hypertrophy, and flexion contractures of the large joints. Juvenile hyaline fibromatosis jhf is a rare, progressive autosomal recessive disease thats characterized by papulonodular skin lesions, soft tissue masses, joint contractures, gingival.
Juvenile hyaline fibromatosis jhf is inherited as a fatal autosomal recessive disorder characterised by multiple tumorous mucocutaneous proliferations. 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. Typical diagnostic criteria are multiple hyaline subcutaneous fibroma, filamentous tumors of the skin, gingival hypertrophy, muscle contractures of the extremities and multiple. There is paucity of available literature with only pdf format. Piattelli department of oral medicine and pathology, dental school, university of chieti, chieti, italy.
Juvenile hyaline fibromatosis jhf is a rare, autosomal recessively inherited disorder. Jhf is an autosomal recessive disease that is usually detected in infancy or early childhood. Hyaline fibromatosis is a rare autosomal recessive disease of connective tissue, characterised by an accumulation of hyaline in the skin as well as various organs. Juvenile hyaline fibromatosis is a rare autosomal recessive connective tissue disease first described in 1873 by murray. Juvenile hyaline fibromatosis jhf is an extremely rare disease and less than 70 cases of jhf have been reported worldwide. Juvenile hyaline fibromatosis, pediatric dermatology 10. A rare hyaline fibromatosis syndrome characterized by papulonodular skin lesions especially around the head and neck, soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. A case of juvenile hyaline fibromatosis in a 7yearold asian boy is presented. We report two siblings with multiple large tumors on the scalp, translucent papules on the nape of the neck, hypertrophic gingiva, and severe flexural contractures of large joints.
Juvenile hyaline fibromatosis management with a diode laser. A rare hyaline fibromatosis syndrome characterized by papulonodular skin lesions especially around the head and neck, soft tissue masses, gingival. A 37yearold man was seen because of juvenile hyaline fibromatosis that had been present since he was 2 to 3 years old. 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. It usually affects one or more siblings, initially presenting in children at 2 to 5 years of age 1.
Hereditary gingival fibromatosis with distinct dental. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Background juvenile hyaline fibromatosis jhf is a rare, inherited condition characterized by tumor. Juvenile hyaline fibromatosis murraypureticdrescher syndrome.
Pdf juvenile hyaline fibromatosis or infantile systemic hyalinosis. Juvenile hyaline fibromatosis in siblings gupta l k. A case report of juvenile hyaline fibromatosis sciencedirect. The gene for juvenile hyaline fibromatosis maps to. This patient demonstrates well the characteristic radiological appearance. Juvenile hyaline fibromatosis jhf is a rare, autosomal recessive hereditary disease. Succinylcholine resistance in a patient with juvenile hyaline.
Pdf a case of juvenile hyaline fibromatosis kadriye. Juvenile hyaline fibromatosis a rare autosomal recessive. Oct 17, 2018 what is the prognosis of juvenile hyaline fibromatosis. Juvenile hyaline fibromatosis, international journal of. Hyaline fibromatosis syndrome genetic and rare diseases. Hyaline fibromatosis syndrome hfs is a rare clinical condition in which biallelic variants in antxr2 are associated with extracellular hyaline deposits. As recently as 1985, only 30 cases had been reported worldwide. You can manage this and all other alerts in my account. We performed a genomewide linkage search in two families with jhf from the same region of the indian state of gujarat and identified a region of homozygosity on.
Juvenile hyaline fibromatosis is a multisystemic disorder characterized by a triad of cephalic fibrous outgrowths, gingival hyperplasia, and flexion contractures. Improved understanding regarding the cause, will likely aid in distinguishing these syndromes in the future. This means that juvenile hyaline fibromatosis, or a subtype of juvenile hyaline fibromatosis, affects less than 200,000 people in the us population. It has welldefined clinical, microscopic, and ultrastructural features. Infantile systemic hyalinosis and juvenile hyaline fibromatosis are presumably autosomal recessive inherited diseases of unknown origin in which accumulation of an amorphous, hyaline material occurs in the skin and other organs. The aim of this study was to find new ultrastructural features that could be useful for differentiating this entity from other types of fibromatosis. Juvenile hyaline fibromatosisinherited systemic hyalinosis is a rare, autosomal recessive and hereditary disease with distinct clinical and histopathological features. A 21monthold japanese boy with puretic syndrome gingival fibromatosis with hyaline fibromas was reported. Printable juvenile hyaline fibromatosis surgical pathology. Outcomesresolutions juvenile hyaline fibromatosis is a genetic disorder and the prognosis of the condition is dictated by the number of tumors present, their locations, the degree of organ destruction, functional impairment, and overall health status of the individual.
In this paper a 14 month old girl with jhf is described. This disorder affects many areas of the body, including the skin, joints, bones, and internal organs. Juvenile hyaline fibromatosis with facial involvement rare. Juvenile hyaline fibromatosis is a rare hereditary disease presenting with skin lesions, gingival hyperplasia, joint contractures, and bone lesions.
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. Click on the link to view a sample search on this topic. Juvenile hyaline fibromatosis a rare autosomal recessive disease. Mucosal lesions processed for light and electron microscopy by routine techniques. 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. Bibliography juvenile hyaline fibromatosis surgical.
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. Pathology of juvenile hyaline fibromatosis dr sampurna roy md. In more severely affected individuals, nodules also grow in the muscles and internal organs, causing pain and complications. 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.
Geographic distribution of reported cases of juvenile hyaline fibromatosis. A survey of literature revealed 70 cases reported worldwide and only a handful of case reports from india. Juvenile hyaline fibromatosis pdf juvenile hyaline fibromatosis jhf is a rare bone dysplasia, characterized by papulonodular skin lesions especially around the head and neck, soft. 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. Jan 07, 2016 juvenile hyaline fibromatosis infantile systemic hyalinosis. Diagnosis must be made as soon as possible to avoid cosmetic and functional handicap. Juvenile hyaline fibromatosis is a rare disorder of glycosaminoglycan synthesis which is characterized clinically by skin papules or tumors, gingival enlargement.
Juvenile hyaline fibromatosis is a rare disorder of glycosaminoglycan synthesis which is characterized clinically by skin papules or tumors, gingival enlargement, osteolytic lesions, and joint contractures and histologically by deposition of amorphous hyaline material. Juvenile hyaline fibromatosis is a rare form of fibromatous proliferation in children. Genetic, clinical and biochemical characterization of a. Hanks s, adams s, douglas j, arbour l, atherton dj, balci s, bode h, campbell me, feingold m, keser g, kleijer w, mancini g, mcgrath ja, muntoni f, nanda a, teare md, warman m, pope fm, supertifurga a, futreal pa, rahman n. In ramon syndrome, gingival fibromatosis is associated. The full text of this article is available in pdf format. Juvenile hyaline fibromatosis infantile systemic hyalinosis. Recently published data have revealed an absent band for type iii collagen tiiic. More recently, denadai proposed to merge juvenile hyaline fibromatosis omim 228600 and infantile systemic hyalinosis omim 236490 into a single name, hyaline fibromatosis syndrome hfs, because of the identification.
The juvenile hyaline fibromatosis jhf is a rare tumorous autosomal recessive disease of the connective tissue. Diagnosis implications of the whole genome sequencing in a. 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. Pdf juvenile hyaline fibromatosis or infantile systemic hyalinosis is a rare progressive, fatal autosomal recessive disorder characterized by.
Cross22 described gingival and alveolar enlargement, microphtalmia, cloudy corneas, hypopigmentation and athetosis. Juvenile hyaline fibromatosis is a very rare hereditary disorder characterized by papulonodular skin lesions, osteolytic bone defects, joint. 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. It is a connective tissue disorder with aberrant synthesis of glycosaminoglycans by fibroblasts.
This autosomal recessive inherited condition has not been described in the otolaryngology literature before. There is paucity of available literature with only juvenile hyaline fibromatosis jhf is inherited as a fatal autosomal recessive disorder characterised by multiple tumorous mucocutaneous proliferations. The current name, jhf, was proposed by kitano in 1976. Molluscum fibrosum in children original name given by murray, 1873, mesenchymal dysplasia puretic et al, 1962, disseminated painful fibromatosis also called fibromatosis hyalinica multiplex called infantile systemic hyalinosis if organ involvement, debatable if this is same disease or a distinct entity pediatr dermatol 2004. The aim of this study was to find new ultrastructural features that could be useful for differentiating this entity from other types. Pdf juvenile hyaline fibromatosis jhf is a rare, progressive autosomal recessive disease thats characterized by papulonodular skin lesions, soft. This autosomal recessively inherited condition has not previously been described in the radiological literature. Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile. Jun 09, 2019 juvenile hyaline fibromatosis pdf juvenile hyaline fibromatosis jhf is a rare bone dysplasia, characterized by papulonodular skin lesions especially around the head and neck, soft. Juvenile hyaline fibromatosis wiley online library.
Pubmed is a searchable database of medical literature and lists journal articles that discuss hyaline fibromatosis syndrome. Gingival fibromatosis with hypertrichosis genetic and rare. Juvenile hyaline fibromatosis and infantile systemic. For this condition, a malfunction of collagen synthesis is considered as the pathogenetic cause. Juvenile hyalin fibromatosis definition of juvenile hyalin. Juvenile hyaline fibromatosis the british journal of. We report a 4yearold female born of firstdegree consanguineous marriage, presenting with gingival hyperplasia, nodular swellings involving. 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. Juvenile hyaline fibromatosis jhf is a rare autosomal recessive disease with onset in infancy or early childhood. Hfs shows some clinical overlap to farber disease fd, a recessive lysosomal storage disorder. Juvenile hyaline fibromatosis jhf is an autosomal recessive condition characterized by multiple subcutaneous nodular tumors, gingival fibromatosis, flexion contractures of the joints, and an accumulation of hyaline in the dermis. Juvenile hyaline fibromatosis symptoms, diagnosis, treatments.
The severity of the signs and symptoms of hyaline fibromatosis syndrome fall along a spectrum. Pdf juvenile hyaline fibromatosis murraypureticdrescher. Landing and nadorra 1986 described a condition, which they called infantile systemic hyalinosis, in 4 female mexicanamerican infants, including 2 sibs. The volume 63 number l juvenile hyaline fibromatosis 75 fig. Jhf is characterized by papulonodular skin lesions, osteolytic bone lesions, flexural joint contractures, and gingival hyperplasia and usually diagnosed in infancy or early childhood. Succinylcholine resistance in a patient with juvenile hyaline fibromatosis you will receive an email whenever this article is corrected, updated, or cited in the literature. In milder cases previously diagnosed as juvenile hyaline fibromatosis, signs and symptoms begin in childhood and affect fewer body systems. 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 hereditary disorder named by drescher et al. This autosomal recessive disorder is characterized by aberrant collagen synthesis with deposition of hyaline material in the supporting tissues of the skin. 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. The cause is unknown, but increased chondroitin synthesis has been demonstrated in skin fibroblasts cultured from the tumor tissue. Fibromatose hyaline juvenile, hyalinose systemique infantile.
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