Congenital fascial dystrophy: Stiff skin syndrome—a human counterpart of the tight-skin mouse

Jabłońska, Stefania; Schubert, H.; Kikuchi, Ichiro

doi:10.1016/s0190-9622(89)70280-2

Cited by 44 publications

(37 citation statements)

References 7 publications

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“…Skin manifestations are most prominently observed in areas with abundant fascia, such as the buttocks, thighs, and shoulder girdle area. However, there is some disagreement about the specific area affected, sometimes being reported as the dermis and in a few cases as the underlying fascia [37,85-87]. It should also be noted that histological studies have rarely assessed hypodermal tissue because this examination requires more invasive procedures [85].…”

Section: Fibrillin-1 and Sclerodermamentioning

confidence: 99%

“…However, there is some disagreement about the specific area affected, sometimes being reported as the dermis and in a few cases as the underlying fascia [37,85-87]. It should also be noted that histological studies have rarely assessed hypodermal tissue because this examination requires more invasive procedures [85]. Early clinical presentation of SSS often impacts skeletal growth and results in deformities such as scoliosis, a tiptoe gait, and a narrow thorax that can ultimately impair pulmonary function and lead to respiratory distress [84,88].…”

Section: Fibrillin-1 and Sclerodermamentioning

confidence: 99%

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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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Section: Fibrillin-1 and Sclerodermamentioning

confidence: 99%

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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“…Mutations in collagen genes resulting in abnormalities in collagen synthesis, deposition and/or degradation have been associated with a variety of human diseases (Myllyharju and Kivirikko, 2001). The skin of patients affected with scleroderma (Jimenez et al, 1996) and stiff skin syndrome (Esterly and McKusick, 1971;Jablonska et al, 1989) contains abnormally high amounts of collagen, and lacks the pliability and elasticity of normal skin. We have been investigating the features of Tight skin mice (Tsk and Tsk2) which, because of their increased deposition of collagen in the skin, have served as models for these diseases (Jimenez et al, 1984;Jablonska et al, 1989;Christner et al, 1995;Siracusa et al, 1996).…”

mentioning

confidence: 99%

A Role for the Androgen Receptor in Collagen Content of the Skin

Markova

Zeskand

McEntee

et al. 2004

Journal of Investigative Dermatology

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Collagen, the major macromolecular component of skin, is responsible for maintaining the structural integrity of the tissue as well as for providing important functional characteristics, such as pliability and thickness. We have been studying the structure and regulation of collagen in mouse mutations affecting the skin. In the course of these studies, we found that there are significant differences in collagen content between the skin of wild-type male and female mice, which become evident at puberty. Furthermore, male mice with an X-linked mutation in the androgen receptor gene (formerly called testicular feminization and abbreviated as Ar(Tfm)) showed decreased levels of collagen, indicating that the androgen receptor pathway contributes to the observed differences. These findings demonstrate that there are striking differences in the collagen content of skin between male and female mice, and provide a biochemical explanation for these differences.

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“…Stiff skin syndrome was first described by Esterly and McKusick 1 and was further characterized by Jablonska and Blaszczyk, 2 who proposed the name of congenital fascial dystrophy. Although familiar cases have been described, most cases are sporadic 3,4 . Affected children are born normally and develop the condition insidiously around the first year of life or during early childhood.…”

Section: Discussionmentioning

confidence: 99%

Eleven‐year‐old girl with skin hardening and restricted mobility in the lower limbs

Hernández‐Martín¹,

Colmenero

Torrelo³

2010

Int J Dermatology

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Congenital fascial dystrophy: Stiff skin syndrome—a human counterpart of the tight-skin mouse

Cited by 44 publications

References 7 publications

Fibrillin assemblies: extracellular determinants of tissue formation and fibrosis

Fibrillin assemblies: extracellular determinants of tissue formation and fibrosis

A Role for the Androgen Receptor in Collagen Content of the Skin

Eleven‐year‐old girl with skin hardening and restricted mobility in the lower limbs

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