Stiff Skin Syndrome

  • Serena Guiducci
  • Mirko Manetti
  • Eloisa Romano
  • Silvia Bellando Randone
  • Lidia Ibba Manneschi
Chapter

Abstract

Stiff skin syndrome (SSS) is clinically characterized by stone-hard skin bound firmly to the underlying tissues, leading to a secondary limitation of joint mobility, often associated mild overlying hypertrichosis, and postural and thoracic wall abnormalities. First manifestations of SSS are usually observed between birth and early childhood with rock-hard skin that is most prominent in areas with abundant fascia such as on the buttocks and thighs, and the disease progresses until the skin of the entire body becomes fibrotic with subsequent growth retardation and joint contractures. SSS is a diagnosis of exclusion, with a distinctive clinical presentation without pathognomonic laboratory or pathological findings. The clinical differential diagnosis of stone-hard and thickened skin areas includes systemic sclerosis, scleroderma, eosinophilic fasciitis, and scleromyxedema. In SSS patients, an overexpression of ECM proteins was detected, whereas no inflammatory infiltrates or upregulation of pro-fibrotic cytokines were found. Data in the literature suggest that fibrosis in SSS might be independent from inflammation. SSS exhibits a spectrum of histopathologic findings and different disease stages might also account for controversial results.

Keywords

Arthritis Sedimentation Eosinophilia Scleroderma Toluidine 

References

  1. 1.
    Jablonska S, Blaszczyk M. Scleroderma-like indurations involving fascias: an abortive form of congenital fascial dystrophy (stiff skin syndrome). Pediatr Dermatol. 2000;17(2):105–10.PubMedCrossRefGoogle Scholar
  2. 2.
    Kikuchi I, Inoue S, Hamada K, Ando H. Stiff skin syndrome. Pediatr Dermatol. 1985;3:48–53.PubMedCrossRefGoogle Scholar
  3. 3.
    Jablonska S, Blaszczyk M. Scleroderma-like disorders. Semin Cutan Med Surg. 1998;17(1):65–76.PubMedCrossRefGoogle Scholar
  4. 4.
    Esterly NB, McKusick VA. Stiff skin syndrome. Pediatrics. 1971;47:360–9.PubMedGoogle Scholar
  5. 5.
    Jablonska S, Groniowski J, Krieg T, et al. Congenital fascial dystrophy—a noninflammatory disease of fascia: the stiff skin syndrome. Pediatr Dermatol. 1984;2(2):87–97.PubMedCrossRefGoogle Scholar
  6. 6.
    Helm TN, Wirth PB, Helm KF. Congenital fascial dystrophy: the stiff skin syndrome. Cutis. 1997;60:153–4.PubMedGoogle Scholar
  7. 7.
    Liu T, McCalmont TH, Frieden IJ, Williams ML, Connolly MK, Gilliam AE. The stiff skin syndrome: case series, differential diagnosis of the stiff skin phenotype, and review of the literature. Arch Dermatol. 2008;144:1351–9.PubMedCrossRefGoogle Scholar
  8. 8.
    Jablonska S, Schubert H, Kikuchi I. Congenital fascia dystrophy: stiff skin syndrome. A human counterpart of the tight skin mouse. J Am Acad Dermatol. 1989;21:943–50.PubMedCrossRefGoogle Scholar
  9. 9.
    Bodemer C, Habib K, Teillac D, Munich A, De Prost Y. Un nouveau cas de stiff skin syndrome. Ann Dermatol Venereol. 1991;118:805–6.PubMedGoogle Scholar
  10. 10.
    Gilaberte Y, Saenz-de Santamaria MC, Garcia-Latasa FJ, Gonzalez-Mediero I, Zambrano A. Stiff skin syndrome: a case report and review of the literature. Dermatology. 1995;190:148–51.PubMedCrossRefGoogle Scholar
  11. 11.
    Guiducci S, Distler JH, Milia AF, Miniati I, Rogai V, Manetti M, Falcini F, Ibba-Manneschi L, Gay S, Distler O, Matucci-Cerinic M. Stiff skin syndrome: evidence for an inflammation-independent fibrosis? Rheumatology (Oxford). 2009 Jul;48(7):849–52.CrossRefGoogle Scholar
  12. 12.
    Richard MA, Grob JJ, Philip N, et al. Physiopathogenic investigations in a case of familial stiff-skin syndrome. Dermatology. 1998;197:127–31.PubMedCrossRefGoogle Scholar
  13. 13.
    Geng S, Lei X, Toyohara JP, Zhan P, Wang J, Tan S. Stiff skin syndrome. J Eur Acad Dermatol Venereol. 2006;20:729–32.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2014

Authors and Affiliations

  • Serena Guiducci
    • 1
  • Mirko Manetti
    • 1
  • Eloisa Romano
    • 1
  • Silvia Bellando Randone
    • 1
  • Lidia Ibba Manneschi
    • 1
  1. 1.Department of Biomedicine Section of RheumatologyUniversity of FlorenceFlorenceItaly

Personalised recommendations