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Stiff-skin syndrome.
Ferrari D, Rossi R, Donzelli O. Ferrari D, et al. Chir Organi Mov. 2005 Jan-Mar;90(1):69-73. Chir Organi Mov. 2005. PMID: 16422231 English, Italian.
The parents reported having observed the gradual functional limitation of numerous joints with asymmetrical distribution, more evident in the elbow and the right scapulohumeral joint. ...Described for the first time in 1971 by Esterly nd McKusik and called stiff …
The parents reported having observed the gradual functional limitation of numerous joints with asymmetrical distribution, more eviden …
The stiff skin syndrome: case series, differential diagnosis of the stiff skin phenotype, and review of the literature.
Liu T, McCalmont TH, Frieden IJ, Williams ML, Connolly MK, Gilliam AE. Liu T, et al. Arch Dermatol. 2008 Oct;144(10):1351-9. doi: 10.1001/archderm.144.10.1351. Arch Dermatol. 2008. PMID: 18936399 Review.
BACKGROUND: Stiff skin syndrome is a sclerodermalike disorder that presents in infancy or early childhood with rock-hard skin, limited joint mobility, and mild hypertrichosis in the absence of visceral or muscle involvement, immunologic abnormalities, or vasc …
BACKGROUND: Stiff skin syndrome is a sclerodermalike disorder that presents in infancy or early childhood with rock-har …
New clinical classification of stiff skin syndrome.
Zhao Q, Chu Z, Li L, Feng C, Zhou H, Hu J, Zhao L, Che D, Zhang X, Peng B, Han Y, Geng S. Zhao Q, et al. Arch Dermatol Res. 2024 Jun 6;316(6):333. doi: 10.1007/s00403-024-03090-1. Arch Dermatol Res. 2024. PMID: 38844593
BACKGROUND: Stiff skin syndrome (SSS) is a rare disease characterized by thickened, indurated skin and limited joint movement. ...OBJECTIVE: To define subtypes based on clinical features and predict the prognosis of a new SSS classification. METHODS: E …
BACKGROUND: Stiff skin syndrome (SSS) is a rare disease characterized by thickened, indurated skin and limited joint mo …
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.
Loeys BL, Gerber EE, Riegert-Johnson D, Iqbal S, Whiteman P, McConnell V, Chillakuri CR, Macaya D, Coucke PJ, De Paepe A, Judge DP, Wigley F, Davis EC, Mardon HJ, Handford P, Keene DR, Sakai LY, Dietz HC. Loeys BL, et al. Sci Transl Med. 2010 Mar 17;2(23):23ra20. doi: 10.1126/scitranslmed.3000488. Sci Transl Med. 2010. PMID: 20375004 Free PMC article.
The predisposition for scleroderma, defined as fibrosis and hardening of the skin, is poorly understood. We report that stiff skin syndrome (SSS), an autosomal dominant congenital form of scleroderma, is caused by mutations in the sole Arg-Gly-Asp sequence-en …
The predisposition for scleroderma, defined as fibrosis and hardening of the skin, is poorly understood. We report that stiff skin …
Stiff skin syndrome and myeloma successfully treated with autologous haematopoietic stem cell transplantation (HSCT).
Bandinelli F, Saccardi R, Salvadorini G, Bosi A, Gozzini A, Matucci Cerinic M. Bandinelli F, et al. Clin Exp Rheumatol. 2013 Mar-Apr;31(2 Suppl 76):181-3. Epub 2013 Jul 23. Clin Exp Rheumatol. 2013. PMID: 23910622
Stiff skin syndrome (SSS) is a rare scleroderma-like syndrome characterised by stone hard skin, joint limitation and progressive restriction of chest that may lead to death. ...The patient was evaluated at 1, 12 and 18 months after HSCT, clinically (joint mot …
Stiff skin syndrome (SSS) is a rare scleroderma-like syndrome characterised by stone hard skin, joint limitation and pr …
Stiff skin syndrome: evidence for an inflammation-independent fibrosis?
Guiducci S, Distler JH, Milia AF, Miniati I, Rogai V, Manetti M, Falcini F, Ibba-Manneschi L, Gay S, Distler O, Matucci-Cerinic M. Guiducci S, et al. Rheumatology (Oxford). 2009 Jul;48(7):849-52. doi: 10.1093/rheumatology/kep118. Epub 2009 May 25. Rheumatology (Oxford). 2009. PMID: 19468049 Free article.
OBJECTIVES: Stiff skin syndrome (SSS) is a rare scleroderma-like syndrome of unknown aetiology. ...In the SSS dermis, the expression of IL-1beta, -6 and MCP-1 was low, whereas VEGF was intensively expressed. No differences were observed for TGF-beta, C …
OBJECTIVES: Stiff skin syndrome (SSS) is a rare scleroderma-like syndrome of unknown aetiology. ...In the SSS dermis, t …
Stiff skin syndrome: a case report.
Mat C, Kalayciyan A, Arzuhal N, Demirkesen C, Karaçorlu M, Tüzün Y. Mat C, et al. Pediatr Dermatol. 2003 Jul-Aug;20(4):339-41. doi: 10.1046/j.1525-1470.2003.20414.x. Pediatr Dermatol. 2003. PMID: 12869158
Stiff skin syndrome (SSS) is a disease similar to scleroderma with an unknown etiology. Stone-hard areas of skin are observed from birth or in early childhood. In this article we describe a 15-year-old girl with skin hardening and limitation of movemen …
Stiff skin syndrome (SSS) is a disease similar to scleroderma with an unknown etiology. Stone-hard areas of skin are …
Juvenile idiopathic arthritis, mitral valve prolapse and a familial variant involving the integrin-binding fragment of FBN1.
Wilson BT, Jensen SA, McAnulty CP, Brennan P, Handford PA. Wilson BT, et al. Am J Med Genet A. 2013 Aug;161A(8):2047-51. doi: 10.1002/ajmg.a.36011. Epub 2013 Jun 21. Am J Med Genet A. 2013. PMID: 23794388
Among these clinically related conditions, there is no compelling evidence that genotype predicts phenotype, with the exception of neonatal Marfan syndrome, mutations in which cluster within FBN1 exons 24-32. ...Heterozygous mutations in transforming growth factor beta-bin …
Among these clinically related conditions, there is no compelling evidence that genotype predicts phenotype, with the exception of ne …