Juvenile hyaline fibromatosis in siblings

Background: Juvenile Hyaline Fibromatosis is a rare autosomal recessive connective tissue disorder. Case Characteristics: Three year old girl with multiple facial nodules, gingival hypertrophy and multiple joint contractures. Her sibling, male child also had similar findings which was progressive an...

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Veröffentlicht in:	Indian journal of pathology & microbiology 2019-04, Vol.62 (2), p.300-302
Hauptverfasser:	Ravikumar, Valkodai, Veerappan Ramamoorthi, Ram, Manisankar, Sivakumar
Format:	Artikel
Sprache:	eng
Schlagworte:	Biopsy Brothers and sisters Child, Preschool Children Children & youth Connective tissue diseases Connective tissues Dermis Diagnosis Diagnosis, Differential Differential diagnosis Ear - pathology Face - pathology Facial nodules Families & family life Fatal Outcome Female Fibroma Gene mutation Genetic counseling gingival hypertrophy Girls Guardians Health aspects Hereditary diseases Humans Hyaline Fibromatosis Syndrome - diagnosis Hyaline Fibromatosis Syndrome - pathology Hypertrophy joint contracture juvenile hyaline fibromatosis juvenile systemic hyalinosis Lesions Male Malnutrition Morphology Nodules Parents & parenting Siblings Skin
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Zusammenfassung:	Background: Juvenile Hyaline Fibromatosis is a rare autosomal recessive connective tissue disorder. Case Characteristics: Three year old girl with multiple facial nodules, gingival hypertrophy and multiple joint contractures. Her sibling, male child also had similar findings which was progressive and he died at 2 years. Outcome: Nodule biopsy showed extensively hyalinised dermis with PAS positivity. Message: Juvenile Hyaline Fibromatosis is a differential diagnosis for children presenting with multiple nodular lesions.
ISSN:	0377-4929 0974-5130
DOI:	10.4103/IJPM.IJPM_76_17