Stiff skin syndrome versus scleroderma: a report of two cases

Azevedo, Valderílio Feijó; Serafini, Sérgio Zuñeda; Werner, Betina; Muller, C. Souza; Franchini, Chiara; Morais, R. L. S. L.

doi:10.1007/s10067-009-1178-z

Cited by 19 publications

(7 citation statements)

References 9 publications

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“…Buttocks and thighs are the most commonly affected locations, resulting in diminished hip mobility. Involvement of the limbs, with flexure contraction of the elbows and knees, as in our patient, and thoracic kyphosis and lumbar hyperlordosis with truncal indurated lesions has also been described . Congenital fascial dystrophy has been considered a variant of SSS exclusively affecting the fascia and is characterized by abundant fascia on the thighs (fascia lata) and buttocks (fascia gluteale), resulting in limb contracture .…”

Section: Discussionsupporting

confidence: 56%

Congenital Indurated Skin Lesions with Impaired Joint Mobility

Sezer

Lehman

Dasgin

2017

Pediatric Dermatology

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Section: Discussionsupporting

confidence: 56%

Congenital Indurated Skin Lesions with Impaired Joint Mobility

Sezer

Lehman

Dasgin

2017

Pediatric Dermatology

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“…In most cases, the disease progresses slowly and is not fatal. Lack of visceral involvement, immunologic abnormalities and vascular disturbances differentiate this inherited condition from rare cases of pediatric SSc [84,89]. …”

Section: Fibrillin-1 and Sclerodermamentioning

confidence: 99%

Fibrillin assemblies: extracellular determinants of tissue formation and fibrosis

Olivieri

Smaldone

Ramirez

2010

Fibrogenesis Tissue Repair

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The extracellular matrix (ECM) plays a key role in tissue formation, homeostasis and repair, mutations in ECM components have catastrophic consequences for organ function and therefore, for the fitness and survival of the organism. Collagen, fibrillin and elastin polymers represent the architectural scaffolds that impart specific mechanic properties to tissues and organs. Fibrillin assemblies (microfibrils) have the additional function of distributing, concentrating and modulating local transforming growth factor (TGF)-β and bone morphogenetic protein (BMP) signals that regulate a plethora of cellular activities, including ECM formation and remodeling. Fibrillins also contain binding sites for integrin receptors, which induce adaptive responses to changes in the extracellular microenvironment by reorganizing the cytoskeleton, controlling gene expression, and releasing and activating matrix-bound latent TGF-β complexes. Genetic evidence has indicated that fibrillin-1 and fibrillin-2 contribute differently to the organization and structural properties of non-collagenous architectural scaffolds, which in turn translate into discrete regulatory outcomes of locally released TGF-β and BMP signals. Additionally, the study of congenital dysfunctions of fibrillin-1 has yielded insights into the pathogenesis of acquired connective tissue disorders of the connective tissue, such as scleroderma. On the one hand, mutations that affect the structure or expression of fibrillin-1 perturb microfibril biogenesis, stimulate improper latent TGF-β activation, and give rise to the pleiotropic manifestations in Marfan syndrome (MFS). On the other hand, mutations located around the integrin-binding site of fibrillin-1 perturb cell matrix interactions, architectural matrix assembly and extracellular distribution of latent TGF-β complexes, and lead to the highly restricted fibrotic phenotype of Stiff Skin syndrome. Understanding the molecular similarities and differences between congenital and acquired forms of skin fibrosis may therefore provide new therapeutic tools to mitigate or even prevent disease progression in scleroderma and perhaps other fibrotic conditions.

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“…Her IgA level was 0.64 mg/L (normal range, [1][2][3][4][5], and the IgG level was 6.22 g/L (normal range, 7.82-16.8). On physical examination, there were dark brown plaques on the inner side of the left thigh and left axillary fossa, and a palm-sized brown macula on her back.…”

mentioning

confidence: 99%