HistoryThis section has been translated automatically.
DefinitionThis section has been translated automatically.
Very rare, congenital mutation in the anthrax toxin receptor 2 gene (also CMG2 gene = capillary morphogenesis factor 2 protein gene), which is localized on chromosome 4q21.21. The mutation manifests itself between the 2nd month of life and the 4th year of life and is probably autosomal recessive.
The disease presents as a systemic disease(hyalinosis) with multiple, very coarse, fibromatous tumors mainly on the head, often also periarticular, as well as gingival hypertrophy and joint contractures. Increased synthesis of chondroitin sulfate by fibroblasts has been demonstrated.
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Occurrence/EpidemiologyThis section has been translated automatically.
Rare; fewer than 150 cases have been described worldwide.
EtiopathogenesisThis section has been translated automatically.
Mutation in the ANTXR2 gene (CMG2 gene). The function of this gene is not known. It encodes a protein that is an intergrin-like receptor for laminin and collagen IV. This plays an important role in cell-matrix interactions.
ManifestationThis section has been translated automatically.
LocalizationThis section has been translated automatically.
Clinical featuresThis section has been translated automatically.
Numerous, partly ulcerating, coarse, different sized, slowly growing nodes, especially on the head. Gingival hyperplasia. Bone and joint destruction with osteolysis, formation of severe joint contractures. Scoliosis.
HistologyThis section has been translated automatically.
Tumor parenchyma consists of pale fibroblast-like cells with granulated cytoplasm in amorphous, eosinophilic, PAS-positive, hyaline basic substance.
TherapyThis section has been translated automatically.
Progression/forecastThis section has been translated automatically.
Case report(s)This section has been translated automatically.
Rahman et al (2002) reported on 2 Indian families in which 4 individuals had hyaline fibromatosis. The families were presumably unrelated but came from the same small village. The patients presented in early childhood with progressive development of multiple subcutaneous swellings and nodules on the scalp, face, extremities, and trunk. Large nodules on the hands and feet were nondisplaceable over the underlying articular cartilage. Other features included gingival hyperplasia, and progressive severe joint contractures; further osteopenia or osteolysis, and massive hyaline deposits in the dermis.
El-Kamah et al (2010) reported on 3 Egyptian siblings born to consanguineous parents who suffered from severe hyaline fibromatosis in infancy. The first child died of respiratory distress at 3 days of age. The second child had multiple nodular skin swellings, painful joint contractures, gingival hyperplasia, repeated pneumonias, and persistent diarrhea. It died of cardiac arrest at the age of 4 years. The third child had painful joint contractures and died of diarrhea at 2 years of age. Genetic analysis revealed a homozygous mutation in the ANTXR2 gene (1074delT; 608041.0008).
Denadai et al (2012) reported a sibling and three other unrelated patients, all of Brazilian origin, with childhood hyaline fibromatosis. The siblings developed pearly skin papules on the face and neck and cutaneous nodules on the ears, scalp, and fingers at 3 and 8 months of age, respectively. The girl suffered from recurrent diarrhea and failure to thrive during the first 2 years of life. Her brother developed numerous skin lesions all over the body, including some that confluent into plaques on the neck and buttocks; further gingival hyperplasia and joint contractures, severe failure to thrive, diarrhea, joint contractures.
The last patient was a 20-year-old male who was confined to a wheelchair due to postural deformities and severe contractures in several joints. He had perl-like and nodular skin lesions, gingival hyperplasia, and joint contractures since the first months of life. Patient radiographs showed osteolytic bone lesions. Duodenal biopsy of a patient with diarrhea showed deposits of hyalinized material. Histologic analysis of the skin lesions showed proliferation of spindle cells without atypical features that formed strands in a homogeneous and hyaline eosinophilic material within the dermis. The material was PAS-positive and resistant to diastasis. Some of the lesions were ulcerated.
LiteratureThis section has been translated automatically.
- Casas-Alba D et al (2018) Hyaline fibromatosis syndrome: clinical update and phenotype-genotype correlations. Hum Mutat 39:1752-1763.
- Chaudhry C et al (2021) Novel variation in ANTXR2 gene causing hyaline fibromatosis syndrome: A report from India. Congenit Anom (Kyoto) 61:140-141.
- Denadai, R et al. (2012) Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system. Am J Med Genet 158A: 732-742.
- Dowling O et al (2003) Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet 73: 957-966.
- El-Kamah GY et al (2010) Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis. (Letter) Brit. J. Derm. 163: 213-215.
- Fayad MN et al (1987) Juvenile hyaline fibromatosis: Two new patients and review of the literature. Am J Med Genet 26: 123-131.
- Härter B et al (2020) Clinical aspects of hyaline fibromatosis syndrome and identification of a novel mutation. Mol Genet Genomic Med 8: e1203.
- Haleem A et al (2002) Juvenile hyaline fibromatosis: morphologic, immunohistochemical, and ultrastructural study of three siblings. Am J Dermatopathol 24: 218-224.
- KitanoY et al (1972) Two cases of juvenile hyaline fibromatosis: some histological, electron microscopic, and tissue culture observations. Arch Derm 106: 877-883.
- Mestiri S et al (2014) Juvenile hyaline fibromatosis: a case report. Pathologica. 106:70-72.
- Murray J (1873) On three peculiar cases of molluscum fibrosum in children. Med Chir Trans 38: 235-253
- Rahman N et al (2002) The gene for juvenile hyaline fibromatosis maps to chromosome 4q21. Am J Hum Gene 71: 975-980.
- Schaller M et al (1997) Juvenile hyaline fibromatosis. Dermatologist 48: 253-257
- Tang K et al (2016) Juvenile hyaline fibromatosis: report of a rare case at an advanced stage with osteosclerosis and scoliosis. Int J Dermatol doi: 10.1111/ijd.13249.
- Whitfield A, Robinson AH (1903) A further report on the remarkable series of cases of molluscum fibrosum in children communicated to the society by Dr. John Murray in 1873. Med Chir Transact London 86: 293.
Incoming links (8)Anthrax toxin receptor 2 gene; Fibromatosis gingivae; Finger ankle pads real; Hyalinoses; Hyalinosis infantile systemical; Hyalinosis, systematized; Juvenile hyaline fibromatosis; Murray syndrome;
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