Stiff skin syndrome sss is a rare disease that is present at birth or early infancy, characterized by stonehard skin, especially in areas with abundant fascia like buttocks and thighs, limitation of joint mobility secondary to the skin thickening and mild hypertrichosis. Background stiff skin syndrome is a sclerodermalike disorder that presents in infancy or early childhood with rockhard skin, limited joint mobility, and mild hypertrichosis in the absence of visceral or muscle involvement, immunologic abnormalities, or vascular hyperreactivity observations we describe 6 children who fit criteria for stiff skin syndrome. This protein works in the spaces between the cells the extracellular matrix to help form elastic fibers which enable the skin, ligaments, and blood vessels to stretch. We report that stiff skin syndrome sss, an autosomal dominant congenital form of scleroderma, is caused by mutations in the sole argglyasp sequenceencoding.
The predisposition for scleroderma, defined as fibrosis and hardening of the skin, is poorly understood. Stiff skin syndrome sss is a genetic syndrome caused by changes mutations in the fbn1 gene. Objective to comprehensively describe the characteristics of a cohort of patients with sms. Stiff skin syndrome sss is clinically characterized by stonehard 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. Objective we present 4 new patients with sss with largely unilateral, segmental distribution. Stiff skin syndrome is a rare cutaneous disease, sclerodermalike disorder that presents in infancy or early childhood with rockhard skin.
Stiff skin syndrome symptoms, diagnosis, treatments and. Exons 37 and 38 encode the fourth transforming growth factor betabinding proteinlike domain tb4, which mediates cellmatrix interactions by binding integrins. It is interesting to be aware that there is no randomized clinical trials rct research article except a few casestudy reports which have been reported about the physical therapy pt intervention for stiff person syndrome sps. March 18, 2010 march 18, 2010by 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. Stiff skin syndrome is caused by mutations changes in the fbn1 gene and is inherited in an autosomal dominant manner. Stiff skin syndrome is a sclerodermalike disorder that presents in infancy or early childhood with rockhard skin. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position flexion contractures.
Stiff skin syndrome connective tissue gene tests ctgt. Stiff skin syndrome sss is a disease similar to scleroderma with an unknown etiology. Dietz and coworkers showed that this syndrome is caused by mutations in the 8cysteine domain of fibrillin1. Congenital fascial dystrophy belonging to the spectrum of stiff skin syndrome sss is a rare genetic disorder characterized by stonyhard indurations of the skin and deeper tissues with contractures of the limbs and limitation of joint mobility. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for stiff skin syndrome. In stiff skin syndrome, which may have two variants, skin biopsy demonstrates large cells. Mar 18, 2010 causes found for stiff skin conditions release date. Stiff skin syndrome is characterized by hard, thick skin, usually over the entire body, which limits joint mobility and causes flexion contractures. These pathologies have a common clinical appearance and share histological features. More detailed information about the symptoms, causes, and treatments of stiff skin syndrome is available be.
Mar 17, 2010 we should keep in mind one important difference between stiff skin syndrome and the tight skin phenotypes and systemic sclerosis. We report that stiff skin syndrome sss, an autosomal dominant congenital form of scleroderma, is caused by mutations in the sole argglyasp sequenceencoding domain of fibrillin1 that mediates. Stiff skin syndrome sss, also known as congenital fascial dystrophy, is characterized by progressive, noninflammatory fibrosis of the skin that often causes limitation in joint mobility. We report that stiff skin syndrome sss, an autosomal dominant congenital form of scleroderma, is caused by mutations in the sole argglyasp sequenceencoding domain of fibrillin1 that mediates integrin binding. Stiff skin syndrome was first documented by esterly and mckusick. Patients with similar phenotypes involving stiff skin have been described.
Stiff skin and thick skin syndromes are congenital disorders in which the mutant fibrillin1 is present throughout dermal development or the modeling of the embryonic tissue, whereas systemic sclerosis is an adult. Fibromatoses, hyalinoses and stiff skin syndrome harper. To date, reported cases of sss have been grouped based on generally accepted clinical and histopathologic findings. Granulomatous cheilitis is a rare disorder of the lips and orofacial mucosa that was first described by meischer 1 in 1945 as persistent or recurrent orofacial swelling secondary to lymphatic obstruction by granulomatous proliferation. Only a handful of clinics around the world address sps, and one is the johns hopkins center. Stiff skin syndrome is a rare cutaneous disease, sclerodermalike disorder that presents in infancy or early childhood with rockhard skin, limited joint mobility, and mild hypertrichosis. Causes found for stiff skin conditions sciencedaily. Connective tissue is the structural tissue that gives strength to joints, tendons, ligaments, and blood vessels. Stiff skin syndrome also known as congenital fascial dystrophy is a cutaneous condition characterized by rock hard induration, thickening of the skin and subcutaneous tissues, limited joint mobility, and mild hypertrichosis in infancy or early childhood. We describe two adults who initially were diagnosed. The researchers then sequenced the fibrillin1 gene in these same patients and found all the stiff skin syndrome mutations clustered in a single region of the fibrillin1 protein known to interact with neighboring cells.
Stiff skin syndrome definition of stiff skin syndrome by. Pdf stiff skin syndrome is a rare cutaneous disease, sclerodermalike. In a recent publication, a distinct segmental variant of sss was proposed. Pdf stiff skin syndrome is a sclerodermalike disorder that presents in. The life expectancy for people with stiff person syndrome is between 6 and 28 years. May 24, 2011 view enhanced pdf access article on wiley online library html view download pdf for offline viewing. After consultation with the pediatric rheumatology service, treatment with. Aug 18, 2017 this is well illustrated by the stiff skin syndrome, a rare inborn disease characterized by excessive accumulation of ecm in the fascia and the skin. Mutations in fibrillin1 cause congenital scleroderma. Recently, stiff skin syndrome sss and a group of syndromes known collectively as the acromelic dysplasias, which typically result in short stature, skin thickening and joint stiffness, have been linked to fbn1 mutations that affect specific domains of the fibrillin1 protein.
Stiff skin syndrome is a rare disorder characterized by pronounced skin induration, mild hypertrichosis and limited joint mobility, predominantly on the buttocks and thighs. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Journal of the american academy of dermatology vol 75. The clinical differential diagnosis of stonehard and thickened skin areas. Is stiff person syndrome benefited by physical therapy.
Did you know that up to 65% of sps patients cannot. Stiff skin syndrome sss is a rare sclerodermalike syndrome of unknown. Search genetic and rare diseases information center. We present 4 new patients with sss with largely unilateral, segmental distribution. Many heterogeneous cases have been reported under the name of stiff skin syndrome. We diagnosed the case as sss, of which we have not encountered a similar report in the turkish literature. Stiff skin syndrome sss is a rare syndrome characterized by hard, thick skin, usually on the entire body. Normally, it occurs in the absence of visceral or muscle involvement.
Jasmine is already 6 years into this debilitating disease. Sclerosing skin diseases represent a large number of distinct disease entities, which include systemic sclerosis, localized scleroderma, and scleredema adultorum. Background stiff skin syndrome is a sclerodermalike disorder that. More detailed information about the symptoms, causes, and treatments of stiff skin syndrome is available below. Stiff skin syndrome sss is a rare sclerodermalike syndrome of unknown aetiology. Background stiff skin syndrome is a sclerodermalike disorder that presents in infancy or early childhood with rockhard skin, limited joint mobility, and mild hypertrichosis in the absence of visceral or muscle involvement, immunologic abnormalities, or vascular hyperreactivity. With encouragement from her older brother, a medical expert at another major hospital, gay made the trip to baltimore and met with dr. There is no visceral and musculoskeletal involvement and no immunologic abnormalities. Childrens skin disease foundation csdf genetic and. So dietzs team examined patients with stiff skin syndrome and found them to have excessive amounts of fibrillin1 in the skin.
Stiff person syndrome sps is a rare acquired neurological disorder characterized by progressive muscle stiffness rigidity and repeated episodes of painful muscle spasms. The patient was not receiving any pharmacological treatment. Systemic sclerosis scleroderma stiff skin syndrome. Stiff skin syndrome is a disorder whose pathogenesis was unknown until recently. Childrens skin disease foundation csdf childrens skin disease foundation csdf. Stiff skin syndrome sss is a rare, autosomal dominant cutaneous disorder with progressive, symmetric, sclerotic skin changes of the shoulders, hips, and thighs. By studying the genetics of a rare inherited disorder called stiff skin syndrome. Stiff person syndrome nord national organization for rare. Stiff skin syndrome is a rare, slowly progressive cutaneous disease characterized by rockhard skin bound firmly to the underlying tissues mainly on the shoulders. D note the skin creases in the lumber region of the back, hinting at exaggerated lordosis. Sss is a diagnosis of exclusion, with a distinctive clinical presentation without pathognomonic laboratory or pathological findings. Sep 21, 2017 stiff skin syndrome sss is primarily considered to be a connective tissue disease, rather than an autoimmune disease. Other occasional findings include lipodystrophy and muscle weakness loeys et al. Pdf visceral involvement in stiff skin syndrome marie.
Stiff skin syndrome genetic and rare diseases information. Figure 3 postural abnormalities and examination fi ndings in stiff person syndrome. We saw a patient with this disease, as well as another who had a similar condition but a somewhat different histology. Sep 21, 2017 stiff skin syndrome sss is a rare syndrome characterized by hard, thick skin, usually on the entire body. Mim 184900 is an autosomal dominant disorder caused by mutations in exons 37 and 38 of the fbn1 gene. This gene gives the body instructions to make a large protein called fibrillin1. A nonprogressive autosomal dominant mim 184900 condition characterised by accumulation of hyaluronidasedigestible material and overexpression of extracellular matrix proteins. Fibromatoses, hyalinoses and stiff skin syndrome harpers. The onset of signs and symptoms can range from presenting at birth through childhood. It often has been described as a monosymptomatic form of melkerssonrosenthal syndrome mrs. Pathophysiological mechanisms in sclerosing skin diseases. The condition was first described in 1971 by esterly and mckusick.
Skin diseases summary summary listen stiff skin syndrome sss is a rare syndrome characterized. Ultrasound morphology of stiff skin syndrome with clinical. Stiff skin syndrome is a sclerodermalike disorder that presents in infancy or early childhood with rockhard skin, limited joint mobility, and mild hypertrichosis in the absence of visceral or. Fibromatoses hyalinoses stiff skin syndrome references fibromatoses, hyalinoses and stiff skin syndrome harpers textbook of pediatric dermatology wiley online library. Patients with stiff skin syndrome, a rare mendelian autosomal dominant condition with a childhood onset of skin fibrosis, have heterozygous mutations in the rgd domain of fibrillin1. Patients do not present immunologic abnormalities or vascular hyperactivity.
March 18, 2010by 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. These two patients shared heritable stiff skin, restricted joint mobility, and absent mucopolysacchariduria. Stiff skin syndrome is a sclerodermalike disorder that presents in infancy or early childhood with rockhard skin, limited joint mobility, and mild hypertrichosis in the absence of visceral or muscle involvement, immunologic abnormalities, or vascular hyperreactivity. Sps is bs the life expectancy for people with stiff. The prognosis of stiff skin syndrome may include the duration of stiff skin syndrome, chances of complications of stiff skin syndrome, probable outcomes, prospects for recovery, recovery period for stiff skin syndrome, survival rates, death rates, and other outcome possibilities in the overall prognosis of stiff skin syndrome.
In stiff skin syndrome, which may have two variants, skin biopsy. Pdf the stiff skin syndrome case series, differential diagnosis of. Stiff skin syndrome sss is a noninflammatory, fibrosing condition of the skin, often affecting the limb girdles. Despite their apparent phenotypic differences, dysregulation of. Background little information is available about the incidence of stiff man syndrome sms the classic form or its variants or about longterm treatment responses and outcomes. A 16yearold boy presented with thoracic and abdominal asymmetry, and orange peel cutaneous lesions, with fibrotic stonehard indurations at the buttocks, thighs and arms leading to secondary joint contractures of the extremities. The changes that cause sss occur in a different part of a gene than the changes that cause marfan syndrome.
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