nach oben

Skeletal Radiology

Erschienen in:

01.03.2018 | Case Report

Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis): whole-body MR findings in two siblings with different subcutaneous nodules distribution

verfasst von: Davide Castiglione, Maria Chiara Terranova, Dario Picone, Giuseppe Lo Re, Sergio Salerno

Erschienen in: Skeletal Radiology | Ausgabe 3/2018

Einloggen, um Zugang zu erhalten

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.

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.CrossRefPubMed

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.CrossRefPubMed

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.CrossRef

Murray J. On three peculiar cases of molluscum fibrosum in children. Med Chir Trans. 1873;38:235–53.CrossRef

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.CrossRefPubMed

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.CrossRefPubMedPubMedCentral

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.CrossRefPubMedPubMedCentral

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.CrossRefPubMedPubMedCentral

Finlay AY, Ferguson SD, Holt PJA. Juvenile hyaline fibromatosis. Br J Dermatol. 1983;108:609–16.CrossRefPubMed

10.

Winik BC, Boente MC, Asial R. Juvenile hyaline fibromatosis: ultra-structural study. Am J Dermatopathol. 1998;20(4):373–8.CrossRefPubMed

11.

Momin YA, Bharambe BM, D’Costa G. Juvenile hyaline fibromatosis: a rare lesion. Indian J Pathol Microbiol. 2011;54:838–9.PubMed

12.

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.

13.

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.CrossRefPubMed

14.

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.

15.

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.CrossRefPubMed

16.

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.CrossRefPubMed

17.

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.CrossRefPubMed

18.

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.CrossRefPubMed

19.

Yayli S, Uncu S, Alpay K, Yildiz K, Cimsit G, Bahadir SA. Case of juvenile hyaline fibromatosis. J Dermatol. 2006;33:260–4.CrossRefPubMed

20.

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.

21.

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.CrossRefPubMed

22.

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.CrossRefPubMed

23.

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.CrossRefPubMed

24.

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.CrossRefPubMed

Titel: Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis): whole-body MR findings in two siblings with different subcutaneous nodules distribution
verfasst von: Davide Castiglione
Maria Chiara Terranova
Dario Picone
Giuseppe Lo Re
Sergio Salerno
Publikationsdatum: 01.03.2018
Verlag: Springer Berlin Heidelberg
Erschienen in: Skeletal Radiology / Ausgabe 3/2018
Print ISSN: 0364-2348
Elektronische ISSN: 1432-2161
DOI: https://doi.org/10.1007/s00256-017-2799-y

Update Radiologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen

Springer Medizin

Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis): whole-body MR findings in two siblings with different subcutaneous nodules distribution

Abstract

Neu im Fachgebiet Radiologie

Screening-Mammografie offenbart erhöhtes Herz-Kreislauf-Risiko

S3-Leitlinie zu Pankreaskrebs aktualisiert

Fünf Dinge, die im Kindernotfall besser zu unterlassen sind

„Nur wer sich gut aufgehoben fühlt, kann auch für Patientensicherheit sorgen“

Update Radiologie

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 3/2018

A 4-year-old with a non-tender dorsal phalangeal lump: diagnosis and discussion

A 4-year-old with a non-tender dorsal phalangeal lump

Skeletal Radiology: The Year in Review 2017

Highlights of the 21th Annual Scientific Meeting of the Australasian Musculoskeletal Imaging Group (AMSIG) 2017, Melbourne, Australia

Primary synovial chondromatosis of the subtalar joint: case report and review of the literature

Annual Meeting Abstracts of the Society of Skeletal Radiology (SSR) 2018, Austin, Texas, USA

Neu im Fachgebiet Radiologie

Screening-Mammografie offenbart erhöhtes Herz-Kreislauf-Risiko

S3-Leitlinie zu Pankreaskrebs aktualisiert

Fünf Dinge, die im Kindernotfall besser zu unterlassen sind

„Nur wer sich gut aufgehoben fühlt, kann auch für Patientensicherheit sorgen“

Update Radiologie