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. Other occasional findings include lipodystrophy and muscle weakness loeys et al. The stiff person syndrome sps, also known as stiff man syndrome is a very rare disease related to the nerves. Patients with similar phenotypes involving stiff skin have been described. Sss is a diagnosis of exclusion, with a distinctive clinical presentation without pathognomonic laboratory or pathological findings. 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 fas cia like buttocks and thighs, limitation of joint mobil ity secondary to the skin thickening and mild hypertri chosis. Stiffperson syndrome typically progresses, leading to disability and stiffness throughout the body. A rare inherited disorder characterized mainly by very stiff, thick skin that can affect the ability to move joints.
Kathleen mcevoy, in office practice of neurology second edition, 2003. We report that stiff skin syndrome sss, an autosomal dominant congenital form. 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. Normally, it occurs in the absence of visceral or muscle involvement. The thickening of the skin can limit joint mobility and. Stiffperson syndrome sps, formerly called stiffman syndrome is an uncommon disorder characterized by progressive muscle stiffness, rigidity, and spasm involving the axial muscles, resulting in severely impaired ambulation. Stiff skin syndrome is a rare sclerodermalike disorder of unknown etiology characterized by stonehard indurations of skin, mild hypertrichosis and limited. What is stiff person syndromecausessymptomstreatment. Denver colorado physician directory stiffperson syndrome is a rare neurological disorder that is often associated with autoimmune conditions such as diabetes, thyroiditis, vitiligo, and pernicious anemia. Nonetheless, it remains medically interesting to develop sensitive and specific assays to. Nov 17, 2017 a 12yearold alamosa boy has a skin condition so rare, he is one of only 43 people in the entire world to be diagnosed with it. Sep 04, 2015 the life expectancy for people with stiff person syndrome is between 6 and 28 years. Symptoms of stiff person syndrome include heightened sensitivity to stimuli and fluctuating muscle rigidity. Skin fibroblasts of patients with geleophysic dysplasia due to fbn1.
An overview of stiff person syndrome health hearty. We present 4 new patients with sss with largely unilateral. Exons 37 and 38 encode the fourth transforming growth factor betabinding proteinlike domain tb4, which mediates cellmatrix interactions by binding integrins. More detailed information about the symptoms, causes, and treatments of stiff skin syndrome is. A case of stiffperson syndrome, type 1 diabetes, celiac disease and dermatitis herpetiformis. Stiff skin syndrome is characterized by hard, thick skin, usually over the entire body, which limits joint mobility and causes flexion contractures. We looked to stiff skin syndrome, an ultrarare form of inherited. 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. 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. Sps is characterized by fluctuating muscle rigidity in the trunk and limbs and a heightened sensitivity to stimuli such as noise, touch, and emotional distress, which can set.
The cause is unknown, but there are clinical and laboratory. Researchers prevent and reverse fibrosis in a mouse model of stiff. Causes found for stiff skin conditions medical xpress. Sep 21, 2017 stiff skin syndrome sss is a rare syndrome characterized by hard, thick skin, usually on the entire body. Figure 3 postural abnormalities and examination fi ndings in stiff person syndrome. Stiff skin syndrome symptoms, diagnosis, treatments and. This subgroup is characterized by thick or tight skin on the arms, above and below. Stiffperson syndrome brain, spinal cord, and nerve. By studying the genetics of a rare inherited disorder called stiff skin syndrome.
Stiffperson syndrome sps, also known as stiffman syndrome sms, is a rare neurologic disorder of unclear cause characterized by progressive rigidity and stiffness. May 23, 2019 stiff person syndrome is a neurological disease and autoimmune disorder. People with this form of the disease have thick, tight, or hard skin on areas. 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. A nonprogressive autosomal dominant mim 184900 condition characterised by accumulation of hyaluronidasedigestible material and overexpression of extracellular matrix proteins. Although rare in general neurology practice, once observed it is unforgettable. The onset of signs and symptoms can range from presenting at birth through childhood. Research suggests that sps is also an autoimmune disorder, and people with the syndrome often have other autoimmune disorders such as type 1 diabetes or thyroiditis. Causes found for stiff skin conditions release date.
The clinical differential diagnosis of stonehard and thickened skin areas includes systemic sclerosis, overlap syndromes e. Did you know that up to 65% of sps patients cannot independently undertake normal activities of daily living, due to disabling rigidity and stiffness, taskspecific or nonspecific phobias, the. Mim 184900 is an autosomal dominant disorder caused by mutations in exons 37 and 38 of the fbn1 gene. This page is a variety of topics on livingcoping with a rare disorder like stiff person syndrome sps, or any chronic. Oct 14, 2016 sss is a diagnosis of exclusion, with a distinctive clinical presentation without pathognomonic laboratory or pathological findings. Sps is characterized by fluctuating muscle rigidity in the trunk and limbs and a heightened sensitivity to stimuli such as noise, touch, and emotional distress, which can set off muscle spasms. Stiff skin syndrome is a rare sclerodermalike disorder of unknown etiology characterized by stonehard indurations. Denver colorado physician directory stiff person syndrome is a rare neurological disorder that is often associated with autoimmune conditions such as diabetes, thyroiditis, vitiligo, and pernicious anemia.
The paraneoplastic variant is associated with antiamphiphysin and antigephyrin antibodies. The life expectancy for people with stiff person syndrome is between 6 and 28 years. His mother describes it as turning his skin to stone. Patients do not present immunologic abnormalities or vascular hyperactivity. Diagnosis of stiff person syndrome is based on recognizing the symptoms and is supported by antibody testing, response to diazepam, and results of electromyography emg studies, which show the electrical activity of apparent normal contraction. This article provides information about its symptoms, diagnosis, treatment, and prognosis. Background little information is available about the incidence of stiffman syndrome sms the classic form or its variants or about longterm treatment responses and outcomes objective to comprehensively describe the characteristics of a cohort of patients with sms design observational study setting mayo clinic, rochester, minnesota patients ninetynine patients with classic sms vs.
The stiffness primarily affects the truncal muscles and is superimposed by spasms, resulting in postural deformities. Sep 21, 2017 stiff skin syndrome sss is a genetic syndrome caused by changes mutations in the fbn1 gene. Stiffperson syndrome formerly called stiffman syndrome affects mainly the brain and spinal cord the central nervous system, but it causes symptoms similar to those of neuromuscular junction disorders disorders that affect the connection between nerves and muscles. 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. According to the genetic and rare diseases information center, stiff skin syndrome causes a hard, thick skin to form on the entire body, eventually causing issues with joint mobility. The clinical differential diagnosis of stonehard and thickened skin areas. Not much is known about it, cause or treatment, as it has only been reported 41 times throughout history. Stiff skin syndrome definition of stiff skin syndrome by. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position flexion contractures. Like other types of neurological disorders, sps affects your brain.
We describe two adults who initially were diagnosed. A 12yearold alamosa boy has a skin condition so rare, he is one of only 43 people in the entire world to be diagnosed with it. 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. However, its also regarded as an autoimmune disease. Mutations in fibrillin1 cause congenital scleroderma. Stiff skin syndrome is a cutaneous condition characterized by rock hard induration, thickening. Stiff person syndrome is a neurological disease and autoimmune disorder. So dietzs team examined patients with stiff skin syndrome and found them to have excessive amounts of fibrillin1 in the skin. Gad65 and gabarap antibodies exist in up to 70% of stiffperson patients. Connective tissue is the structural tissue that gives strength to joints, tendons, ligaments, and blood vessels. Sps is bs the life expectancy for people with stiff. 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. An individual with stiff person syndrome will experience muscles spasms with severe pain stimulated normally by noise, touch, and most commonly emotional stress. We present 4 new patients with sss with largely unilateral, segmental distribution.
Mar 27, 2019 stiff person syndrome sps is a rare neurological disorder with features of an autoimmune disease. The condition was first described in 1971 by esterly and mckusick. Stiff limb syndrome is a clinical feature of the stiff person syndrome, which is a rare and disabling neurologic disorder characterized by muscle rigidity and episodic spasms that involve axial and limb musculature. Stiff skin syndrome sss is a genetic syndrome caused by changes mutations in the fbn1 gene. Stiff person syndrome symptoms, diagnosis and treatment. It is an autoimmune disorder resulting in a malfunction of aminobutyric acid mediated inhibitory networks in the central nervous system. Jasmine is already 6 years into this debilitating disease. Stiff person syndrome living forward home facebook. 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 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. Stiff skin syndrome genetic and rare diseases information center. Mar 18, 2010 causes found for stiff skin conditions release date. 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. Stiff skin syndrome sss is a rare syndrome characterized by hard, thick skin, usually on the entire body.
Stiff person syndrome is an extremely rare neurological condition which affects the nervous system of the body. Symptoms of stiffperson syndrome include heightened sensitivity to. Stiff person syndrome is a rare neurological disorder. Mar 19, 2010 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. More detailed information about the symptoms, causes, and treatments of stiff skin syndrome is available below. The reddish background area may not show up if your skin is dark. Know the causes, symptoms, treatment and prognosis of stiff person syndrome. Stiffperson syndrome sps is a rare neurological disorder with features of an autoimmune disease. Stiff skin syndrome is a rare disorder characterized by pronounced skin induration, mild hypertrichosis and limited joint mobility, predominantly on the buttocks and thighs. This gene gives the body instructions to make a large protein called fibrillin1. Stiff person syndrome sps is a rare disorder, characterised by. Losartan is a promising candidate drug for treatment of gphysd due to fbn1.
Treatment is supportive, including physical therapy. Gada is recognized as a biomarker of value for clinical diagnosis and prognostication in these diseases. Aug 01, 2018 according to the genetic and rare diseases information center, stiff skin syndrome causes a hard, thick skin to form on the entire body, eventually causing issues with joint mobility. To date, reported cases of sss have been grouped based on generally accepted clinical and histopathologic findings. Stiffman syndrome is a rare motor function disorder characterized by involuntary stiffness of axial muscles and superimposed painful muscle spasms. Stiffman syndrome is of spinal or brainstem origin and shows evidence of being an autoimmune disease. A maculopapular rash looks like red bumps on a flat, red patch of skin. Immunologic abnormalities or vascular hyperactivity are not present in patients not much is known about it, cause or treatment. Stiff person syndrome sps, also known as stiff man syndrome sms, is a rare neurologic disorder of unclear cause characterized by progressive rigidity and stiffness. The most relevant sign was the stonehard skin induration of buttocks and thighs. Research suggests that sps is also an autoimmune disorder, and people with the syndrome often have other autoimmune disorders such as. Stiff person syndrome sps, also called moerschwoltmann syndrome, is a rare nervous system disorder in which muscle stiffness comes and goes.
Even though it is a rare condition it causes significant morbidity and mortality. Stiff skin syndrome sss is a noninflammatory, fibrosing condition of the skin, often affecting the limb girdles. Stiffperson syndrome information page national institute. D note the skin creases in the lumber region of the back, hinting at exaggerated lordosis. Stiff skin syndrome sss is primarily considered to be a connective tissue disease, rather than an autoimmune disease. It is caused by increased muscle activity due to decreased inhibition of the central nervous system cns that results from the blockade of glutamic acid. Chronic pain, impaired mobility, and lumbar hyperlordosis are common symptoms.
Causes found for stiff skin conditions sciencedaily. By studying the genetics of a rare inherited disorder called stiff skin syndrome, researchers at the johns hopkins university school of medicine. Stiffperson syndrome fact sheet page 2 research findings the cause of stiffperson syndrome is unknown. Dietz believes that some of these treatment strategies could transition very. We searched the mayo clinics computerized diagnostic index for patients january 1984 to december 2008 with the following diagnoses. Many heterogeneous cases have been reported under the name of stiff skin syndrome. It would help if you would be specific about what your genetic disorder is.