Stiff Skin Syndrome

A non-progressive autosomal dominant [MIM 184900] condition characterised by accumulation of hyaluronidase-digestible material and overexpression of extracellular matrix proteins
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
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The film's metaphor extends further than colorful animation, as People recently reported of 14-year-old Colorado-native, Jaiden Rogers, who has spent the last six years battling the extremely rare disease, stiff skin syndrome, which causes his entire body to thicken and harden, like stone.
Restrictive dermopathy and stiff skin syndrome were considered for differential diagnosis.
Few conditions resembling HI like restrictive dermopathy, stiff skin syndrome, Neu-Laxova syndrome were considered for differentials.
Neu-Laxova syndrome is an autosomal recessive condition presenting with ichthyosis, marked intrauterine growth restriction, microcephaly, short neck and limb deformities.1 In stiff skin syndrome, patient presents with rock-hard skin, limited joint mobility, and mild hypertrichosis in infancy or early childhood.
Its strong association with diabetes has led to its name necrobiosis lipoidica diabeticorum), diabetic bullae, acquired perforating dermatosis (APD), granuloma annulare, oral lichen planus, vitiligo and stiff skin syndrome is not seen in our study.
Some of the cutaneous markers of diabetes mellitus like necrobiosis lipoidica diabeticorum, diabetic bullae, acquired perforating dermatosis and stiff skin syndrome is not seen in our study.
Fibromatosis, hyalinosis and Stiff Skin syndrome. In: Harper J, Oranje A, Prose N, editors.
Winchester syndrome (OMIM 277950), systemic fibromatosis (OMIM 228550), stiff skin syndrome (OMIM 184900), lipoid proteinosis (OMIM 247100), and storage diseases including mucopolysacharoses, sphingolipidoses and mucilipidoses [Osterby et al., 2002; Zolkpi et al., 2003; Lim et al., 2005; Yayli et al., 2006; Al-Mayouf 2007; ,Al-Malik et al., 2007; Shieh et al., 2008; Al-Mubarak et al., 2009].
Washington, Mar 20 (ANI): In a study, Johns Hopkins University School of Medicine researchers have shed light on a rare inherited disorder called stiff skin syndrome.
Instead we turned to a rare but inherited form of isolated skin fibrosis called stiff skin syndrome, hoping to gain a foothold regarding cellular mechanisms that might prove relevant to both conditions," says Dietz.
First, excess collagen is a hallmark feature of both stiff skin syndrome and scleroderma.
By studying the genetics of a rare inherited disorder called stiff skin syndrome, researchers at the Johns Hopkins University School of Medicine have learned more about scleroderma, a condition affecting about one in 5,000 people that leads to hardening of the skin as well as other debilitating and often life-threatening problems.The findings published in Science Translational Medicine would open doors to testing new treatments."Scleroderma is a common and often devastating condition yet its cause remains mysterious.