Abstract
Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis) is a rare, progressive, autosomal recessive disorder whose main hallmark is the deposition of amorphous hyaline material in soft tissues, with an evolutionary course and health impairment. It may present involvement of subcutaneous or periskeletal soft tissue, or may develop as a visceral infiltration entity with poor prognosis. Very few radiological data about this inherited condition have been reported, due to the extreme rarity of disease. We herein present a case of two siblings, affected by different severity of the disease, with different clinical features. They were examined by whole-body MR (WBMR) in order to assess different lesions localization, to rule out any visceral involvement and any other associated anomalies and to define patients’ management.
Similar content being viewed by others
References
Denadai R, Raposo-Amaral CE, Bertola D, Kim C, Alonso N, Hart T, et al. Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system. Am J Med Genet. 2012;158A:732–42.
Fayad MN, Yacoub A, Salman S, Khudr A, Der Kaloustian VM. Juvenile hyaline fibromatosis: two new patients and review of the literature. Am J Med Genet. 1987;26(1):123–31.
Marques SA, Stolf HO, Polizei JO, Munhoz T, Brandao MC, Marques ME. Hyaline fibromatosis syndrome: cutaneous manifestations. Anais Brasileiros Dermatol. 2016;91(2):226–9.
Murray J. On three peculiar cases of molluscum fibrosum in children. Med Chir Trans. 1873;38:235–53.
Kitano Y, Horiki M, Aoki T, Sagami S. Two cases of juvenile hyaline fibromatosis: some histological, electron microscopic, and tissue culture observations. Arch Dermatol. 1972;106:877–83.
Rahman N. DutsanM,TeareMD,Hanks S, Edkins SJ, Hughes J et al. The gene for JHF maps to 4q21. Am J Hum Genet. 2002;71:975–80.
Hanks S, Adams S, Douglas J, Solenberger R, Thomas PJ. Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet. 2003;73:791–800.
Breier F, Fang-Kircher S, Wolff K, Jurecka W. Juvenile hyaline fibromatosis impaired collagen metabolism in human skin fibroblasts. Arch Dis Child. 1997;77:436–40.
Finlay AY, Ferguson SD, Holt PJA. Juvenile hyaline fibromatosis. Br J Dermatol. 1983;108:609–16.
Winik BC, Boente MC, Asial R. Juvenile hyaline fibromatosis: ultra-structural study. Am J Dermatopathol. 1998;20(4):373–8.
Momin YA, Bharambe BM, D’Costa G. Juvenile hyaline fibromatosis: a rare lesion. Indian J Pathol Microbiol. 2011;54:838–9.
Ishikawa H, Maeda H, Takamatsu H. SaitoY. Systemic hyalinosis (juvenile hyaline fibromatosis): ultrastructure of the hyaline with particular reference to the cross-banded structure. Arch Dermatol Res. 1979:195–206.
Tzellos TG, Batzios SP, Dionyssopoulos A, Karakiulakis G, Papakonstantinou E. Differential expression of matrix metalloproteinases and proteoglycans in juvenile hyaline fibromatosis. J Dermatol Sci. 2011;61:94–100.
Varshini KA, Haritha K, Desai CA, et al. Juvenile hyaline fibromatosis or infantile systemic hyalinosis: hyaline fibromatosis syndrome. Indian J PediatrDermatol. 2016;17:38–41.
Landing BH, Nadorra R. Infantile systemic hyalinosis: report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis. Pediatr Pathol. 1986;6:55–79.
Stucki U, Spycher MA, Eich G, Rossi A, Sacher P, Steinmann B, et al. Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature. Am J Med Genet. 2001;100:122–9.
Nofal A, Sanad M, Assaf M, et al. Juvenile hyaline fibromatosis and infantile systemic hyalinosis: a unifying term and a proposed grading system. J Am Acad Dermatol. 2009;61:695–700.
Urbina F, Sazunic I, Murray G. Infantile systemic hyalinosis or juvenile hyaline fibromatosis? Pediatr Dermatol. 2004;21:154–9. https://doi.org/10.1111/j.0736-8046.2004.21214.
Yayli S, Uncu S, Alpay K, Yildiz K, Cimsit G, Bahadir SA. Case of juvenile hyaline fibromatosis. J Dermatol. 2006;33:260–4.
Keser G, Karabulut B, Oksel F et al. Two siblings with juvenile hyaline fibromatosis: case reports and review of the literature. Clin R Heumatol. 1999;18(3):248–52.
Yoo SY, Kim JH, Kang HS, et al. Clinical and imaging findings of systemic hyalinosis: two cases presenting with congenital arthrogryposis. Skeletal Radiol. 2010 Jun;39(6):589–93.
Colagrande S, Origgi D, Zatelli G, Giovagnoni A, Salerno S. CT exposure in adult and paediatric patients: a review of the mechanisms of damage, relative dose and consequent possible risks. Radiol Med. 2014;119(10):803–10.
Granata C, Origgi D, Palorini F, Matranga D, Salerno S. Radiation dose from multidetector CT studies in children: results from the first Italian nationwide survey. Pediatr Radiol. 2015;45:695–705.
Palorini F, Origgi D, Granata C, Matranga D, Salerno S. Adult exposures from MDCT including multiphase studies: first Italian nationwide survey. Eur Radiol. 2014;24:469–83.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of interest
The authors declare that they have no conflict of interest.
Ethical approval
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
Rights and permissions
About this article
Cite this article
Castiglione, D., Terranova, M.C., Picone, D. et al. Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis): whole-body MR findings in two siblings with different subcutaneous nodules distribution. Skeletal Radiol 47, 425–431 (2018). https://doi.org/10.1007/s00256-017-2799-y
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00256-017-2799-y