title: Juvenile hyaline fibromatosis and infantile systemic hyalinosis: divergent expressions of the same genetic defect?
abstract: We describe here a three year-old girl with classic clinical and histological features of juvenile hyaline fibromatosis. We found a history of similar skin findings in her eldest sister, in whom the disorder took a rapidly progressive and fatal course in the second year of life, suggesting either a very severe form of juvenile hyaline fibromatosis, or the possibility of infantile systemic hyalinosis. The similarities and differences between these two described types of hyalinoses have been reviewed in reference to the present report.
authors.affiliation: Department of Derrmatology, T.N. Medical College and B.Y.L. Nair Ch. Hospital, Mumbai Central, Mumbai - 400 008, India. drmandeepdhingra@gmail.com
authors.forename: Mandeep
authors.initials: M
authors.lastname: Dhingra
authors.forename: Sangeeta
authors.initials: S
authors.lastname: Amladi
authors.forename: Shankar
authors.initials: S
authors.lastname: Savant
authors.forename: Chitra
authors.initials: C
authors.lastname: Nayak
mesh_terms: D002675:Child, Preschool; D005260:Female; D018222:Desmoid Tumors / Q000150:complications / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D005808:Genes, Recessive; D006801:Humans; D006818:Hyalin / Q000378:metabolism*; D008607:Intellectual Disability / Q000150:complications; D012867:Skin / Q000378:metabolism*; D012873:Skin Diseases, Genetic / Q000150:complications* / Q000378:metabolism* / Q000503:physiopathology; D012878:Skin Neoplasms / Q000150:complications / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology