Juvenile hyaline fibromatosis is a rare, autosomalrecessive disease characterized by papular and nodular skin lesions, gingival hyperplasia, joint contractures and bone involvement in variable. A 37yearold man was seen because of juvenile hyaline fibromatosis that had been present since he was 2 to 3 years old. The hfs association aims to raise awareness of the disease called hyaline fibromatosis syndrome hfs. Diagnosis implications of the whole genome sequencing in a. This association and this website will increase visibility to help patients, families and scientists to interact. Progressive, chronic, and often debilitating disease pearly papules and plaques face, posterior neck, perianal region large, subcutaneous nodules most often on scalp gingival hypertrophy flexure contractures due to masses in periarticular soft tissue osteolytic bone lesions of skull, long bones, phalanges j am acad dermatol. Symptoms of juvenile hyaline fibromatosis including 10 medical symptoms and signs of juvenile hyaline fibromatosis, alternative diagnoses, misdiagnosis, and correct diagnosis for juvenile hyaline fibromatosis signs or juvenile hyaline fibromatosis symptoms.
Fibromatosis definition of fibromatosis by the free. Juvenile hyaline fibromatosis is a rare, autosomal recessive disease. In more severe cases previously diagnosed as infantile systemic hyalinosis. Juvenile hyaline fibromatosis jhf is a rare hereditary disease with an autosomal recessive transmission. Juvenile hyaline fibromatosis and infantile systemic hyalinosis are. Gingival fibromatosis with hypertrichosis genetic and. It has welldefined clinical, microscopic, and ultrastructural features. Pdf juvenile hyaline fibromatosis jhf is a rare, progressive autosomal recessive disease thats characterized by. Hyaline deposits in multiple organs, recurrent infections and intractable diarrhea often lead to early death. Juvenile hyaline fibromatosis jhf is a rare disease with autosomal recessive inheritance. Juvenile hyaline fibromatosis jhf is a similar disease to ish and has often been described as a different disease, but there are histological similarities and the hyaline material is.
Pdf juvenile hyaline fibromatosis or infantile systemic hyalinosis is a rare progressive. Juvenile hyaline fibromatosis and infantile systemic hyalinosis ijdvl. Jhf is an autosomal recessive disease that is usually detected in infancy or early childhood. Juvenile hyaline fibromatosis jhf is a rare bone dysplasia, characterized by papulonodular skin lesions especially around the head and neck, soft tissue. We report a 4yearold female born of firstdegree consanguineous marriage, presenting with gingival hyperplasia, nodular swellings involving. Gingival fibromatosis with hypertrichosis is a genetic condition that can cause profound overgrowth of hair and gums, as well as other variable features. Juvenile hyaline fibromatosis is a rare, autosomalrecessive disease characterized by papular and nodular skin lesions, gingival hyperplasia, joint contractures. 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.
Stats juvenile hyaline fibromatosis juvenile hyaline. This article is from journal of medical case reports, volume 8. Juvenile hyaline fibromatosis jhf is a rare and progressive autosomal recessive connective tissue disorder. Fibromatosis is a condition where fibrous overgrowths of dermal and subcutaneous connective tissue develop tumours called fibromas. Juvenile hyaline fibromatosis is a rare form of fibromatous proliferation in children. Hyaline fibromatosis syndrome genetic and rare diseases. Through these exchanges, our motivation is to promote and fund scientific research to increase knowledge about the disease. The historical figure, julia pastrana and her infant son, likely had this syndrome. 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. The current name, jhf, was proposed by kitano in 1976 2. Surviving children may suffer from severely reduced mobility due to joint contractures. This disorder affects many areas of the body, including the skin, joints, bones, and internal organs.
Stiff thick skin hyaline material in papillary dermis. Juvenile hyaline fibromatosis jhf is a rare, autosomal recessive hereditary disease. It usually affects one or more siblings, initially presenting in children at 2 to 5 years of age 1. Jhf is characterized by papulonodular skin lesions, osteolytic bone lesions, flexural joint contractures, and gingival hyperplasia and usually diagnosed in infancy or early childhood. Juvenile hyaline fibromatosis jhf is a rare, progressive autosomal recessive disease thats characterized by papulonodular skin lesions, soft tissue masses, joint contractures, gingival.
It is characterized by papulonodular skin lesions which are painless but cosmetically unacceptable, and often disturb normal joint function. Juvenile hyaline fibromatosis jhf is a rare autosomal recessive disease with onset in infancy or early childhood. We refreshed our knowledge through previous studies and found that infantile systemic hyalinosis and juvenile hyaline fibromatosis are allelic and intermediate phenotypes between these two disorders have been described. Juvenile hyaline fibromatosis or hyaline fibromatosis. It typically becomes apparent at birth or in infancy, causing severe pain with movement. Juvenile hyaline fibromatosis jhf is an unknown hereditary disorder with variable penetrance. 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. We describe here a three yearold girl with classic clinical and histological features of juvenile hyaline fibromatosis. 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. Juvenile hyaline fibromatosis juvenile hyaline fibromatosis yesudian, patrick. Hyaline fibromatosis syndrome is a disorder in which a clear hyaline substance abnormally accumulates in body tissues. We report a 4yearold female born of firstdegree consanguineous marriage, presenting with gingival hyperplasia, nodular swellings involving the both pinna and right ankle joint.
Statistics of juvenile hyaline fibromatosis map check how this condition affects the daily life of people who suffer it. Sanzalin h, kiyozuka y, uemura y, shikata n, ueda s, tsubura a. 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. Worldwide, pdf admin may 5, 2020 juvenile hyaline fibromatosis jhf is a rare bone dysplasia, characterized by papulonodular skin lesions especially around the head and neck, soft tissue.
Sir, we were enlightened by the response on our article by rafael dendai et al. A rare inherited disease involving tumorlike deposits of a substance called hyaline in body tissues such as skin, gums, joints and bones. The nose, chin, ears, scalp, back, and knees are the most common affected sites. Pdf juvenile hyaline fibromatosis or infantile systemic hyalinosis. A rare hyaline fibromatosis syndrome characterized by papulonodular skin lesions. Juvenile hyaline fibromatosis jhf is a rare autosomal recessive inherited condition presenting early in life and characterized by the accumulation of hyalinelike tissue in the skin as well as. Juvenile hyaline fibromatosis krishnamurthy j, dalal bs. Juvenile hyaline fibromatosis jhf is an extremely rare disease and less than 70 cases of jhf have been reported worldwide 1. There appear to be many different ways to classify fibromatosis. Less than 70 cases of jhf have been reported worldwide and extremely few from india. We present a case of 4yearold girl who presented with multiple painless nodular masses on the scalp. 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. The cause is unknown, but increased chondroitin synthesis has been demonstrated in skin fibroblasts cultured. The severity of the signs and symptoms of hyaline fibromatosis syndrome fall along a spectrum.
Succinylcholine resistance in a patient with juvenile hyaline fibromatosis anesthesiology 11 1997, vol. The main clinical appearance includes papular and nodular skin lesions, gingival hyperplasia, joint contractures and bone involvement in variable degrees 2. Hyaline fibromatosis syndrome hfs is a condition characterized by deposits of a clear substance hyaline in the skin and in various other body tissues. Juvenile hyaline fibromatosis is a very rare hereditary disorder characterized by papulonodular skin lesions, osteolytic bone defects, joint. It is characterized by papulonodular skin lesions, soft tissue masses, gingival hypertrophy, and flexion contractures of the large joints. Juvenile hyalin fibromatosis definition of juvenile. Hyaline fibromatosis syndrome genetics home reference nih. Capillary morphogenesis gene 2 mutations, hyaline fibromatosis syndrome, infantile. Hyalin is a collagenlike substance made by cells in the connective tissue. Infantile systemic hyalinosis ish and juvenile hyaline fibromatosis jhf are two variants of hfs. A 19year followup of multiple juvenile fibromatosis. Juvenile hyaline fibromatosis management with a diode. 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.
In more severe cases previously diagnosed as infantile. Juvenile hyaline fibromatosis, pediatric dermatology 10. The characteristic clinical features of whitish papules, nodules, tumors and hypertrophy of gingiva were all present in our. The underlying cause of gingival fibromatosis with. Mutations in capillary morphogenesis gene2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. The light and electron microscopic features are very distinctive. 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. The material was paspositive and diastaseresistant. Hyaline fibromatosis may form a spectrum with infantile systemic hyalinosis. Signs and symptoms may be present from birth or begin in later childhood to adolescence. Juvenile hyaline fibromatosis or infantile systemic hyalinosis ijpd. Juvenile hyaline fibromatosis is a rare autosomal recessive disease of the connective tissue.