juvenile hyalin fibromatosis

(redirected from systemic hyalinosis)

ju·ve·nile hy·a·lin fi·bro·ma·to·sis

[MIM*228600]
a rare recessively inherited deforming disorder of head, neck, and generalized cutaneous nodules or tumors in children with normal mentality; the lesions consist of fibroblasts separated by an eosinophilic hyalin stroma composed mostly of glycosaminoglycans.
Synonym(s): systemic hyalinosis

juvenile hyaline fibromatosis

An extremely rare (70 cases in the world literature) autosomal-recessive condition of early onset (infancy, childhood), which affects the skin, joints, and bones.

Clinical findings
Variably-sized, occasionally painful nodules on the hands, neck, scalp, ears, and nose, as well as at joint creases and external genitalia; gingival hypertrophy; joint contractures; reduced range of motion.
References in periodicals archive ?
Juvenile hyaline fibromatosis and infantile systemic hyalinosis. Case for diagnosis.
Juvenile hyaline fibromatosis and infantile systemic hyalinosis: a unifying term and a proposed grading system.
Infantile systemic hyalinosis (infantile hyaline fibromatosis, infantile hyalinoses)3 is a severe form of JHF, with more severe joint involvement, joint contractures and thickened skin.
Infantile systemic hyalinosis: report of four cases of disease, fatal in infancy, apparently different from juvenile systemic hyalinosis.
Infantile systemic hyalinosis. J Am Acad Dermatol 2004; 50: S61-4.
Infantile Systemic Hyalinosis (ISH) is a rare autosomal recessive condition characterized by progressive deposition of amorphous hyaline material in various tissues like skin, gastrointestinal tract, cardiac muscle, adrenals, skeletal muscles, lymph nodes, spleen, thyroid, and adrenal glands.
Infantile systemic hyalinosis. J Am Acad Dermatol 2004 Feb;50(2)(Suppl):S61-S64.
There are also three interesting case reports on Fraser syndrome, Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome and infantile systemic hyalinosis.
Infantile systemic hyalinosis (ISH) is a rare genetic (CMG2) disorder caused by a mutation in the gene coding the protein responsible for the morphogenesis of capillary blood vessels (capillary morphogenetic protein 2) [Raham et al., 2002; Shin et al., 2004; Aghighi et al., 2007].
The authors' objective was to present the phenotype characteristics of infantile systemic hyalinosis with a particular focus on oral lesions, and obstacles in the therapeutic management in the case reported.
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