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. 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. The stiffness primarily affects the truncal muscles and is superimposed by spasms, resulting in postural deformities. 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.
However, its also regarded as an autoimmune disease. For language access assistance, contact the ncats public information officer. Symptoms of stiffperson syndrome include heightened sensitivity to. Stiff skin syndrome sss is a genetic syndrome caused by changes mutations in the fbn1 gene. 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 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 definition of stiff skin syndrome by. To date, reported cases of sss have been grouped based on generally accepted clinical and histopathologic findings. Stiffperson syndrome brain, spinal cord, and nerve.
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. D note the skin creases in the lumber region of the back, hinting at exaggerated lordosis. Chronic pain, impaired mobility, and lumbar hyperlordosis are common symptoms. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position flexion contractures. We saw a patient with this disease, as well as another who had a similar condition but a somewhat different histology. The patient was not receiving any pharmacological treatment. To prevent dumping syndrome postoperative ulcerstomach surgeries eat in reclining position, lie down after meals for 2030 minutes also restrict fluids during meals, low cho and fiber diet, small frequent meals 17. Gada is recognized as a biomarker of value for clinical diagnosis and prognostication in these diseases. We searched the mayo clinics computerized diagnostic index for patients january 1984 to december 2008 with the following diagnoses. A 27yearold hispanic woman presented to our emergency. If you have problems viewing pdf files, download the latest version of adobe reader. It is characterised by fluctuating muscle rigidity and spasms. There are many variants of sps, these include the classical sps, stiff leg syndrome sls, paraneoplastic variant, gait ataxia, dysarthria, and abnormal eye movements. Connective tissue is the structural tissue that gives strength to joints, tendons, ligaments, and blood vessels.
Mutations in the fbn1 gene can cause another condition called mass syndrome. The signs and symptoms associated with stiff skin syndrome sss include hard, thickened skin, especially affecting the buttocks, thighs, and shoulders. Patients do not present immunologic abnormalities or vascular hyperactivity. 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. Stiffperson syndrome sps, also known as stiffman syndrome sms, is a rare neurologic disorder of unclear cause characterized by progressive rigidity and stiffness. 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. Pdf stiff skin syndrome is a rare cutaneous disease, sclerodermalike disorder that presents in infancy or early childhood with rockhard skin. Stiff person syndrome is a neurological disease and autoimmune disorder. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing.
Stiff person syndrome sps is a rare neurological disorder characterized by rigidity due to intermittent painful extremity, facial and truncal muscle spasms 1. Stiff skin syndrome is a rare, slowly progressive cutaneous disease characterized by rockhard skin bound firmly to the underlying tissues mainly on the. Awareness ribbon color meanings black awareness ribbons 911 this ribbon is a sign of mourning for those lost in the september 11th 911 attack. Photo courtesy of zeilog soda lime goes blue very fast with malignant hyperthermia photos courtesy drs. 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.
Stiff skin syndrome is a rare sclerodermalike disorder of unknown etiology characterized by stonehard indurations. Sps may be idiopathic or associated with other disease processes, including manifestation as a paraneoplastic phenomenon. Background stiff skin syndrome is a sclerodermalike disorder that. Stiff person syndrome presenting with sudden onset of. Clinical journal of oncology nursing volume 18, number 4 advanced practice nursing 465 stiff person syndrome. Other symptoms may include excessive hair growth hypertrichosis, loss of body fat lipodystrophy, scoliosis, muscle weakness, slow growth, and short stature. Systemic sclerosis scleroderma stiff skin syndrome.
According to expert consensus, considering the disabling progressive course of stiff person syndrome, ivig should be offered as the firstline treatment. 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. Stiff skin syndrome was first documented by esterly and mckusick. This gene gives the body instructions to make a large protein called fibrillin1. We describe two adults who initially were diagnosed. A nonprogressive autosomal dominant mim 184900 condition characterised by accumulation of hyaluronidasedigestible material and overexpression of extracellular matrix proteins. Normally, it occurs in the absence of visceral or muscle involvement. So dietzs team examined patients with stiff skin syndrome and found them to have excessive amounts of fibrillin1 in the skin. The signs and symptoms of stiff skin syndrome usually become apparent in infancy to midchildhood. The predisposition for scleroderma, defined as fibrosis and hardening of the skin, is poorly understood. It would help if you would be specific about what your genetic disorder is.
Stiff person syndrome sps, also called moerschwoltmann syndrome, is a rare nervous system disorder in which muscle stiffness comes and goes. Stiff person syndrome sps is one of the rarest autoimmune neurological disorders, which is mostly reported in women. We present 4 new patients with sss with largely unilateral, segmental distribution. Above knee amputation elevate for first 24 hours on pillow, position prone daily to provide for hip extension.
First described in 1956, stiff person syndrome is characterized by episodes of slowly progressive stiffness and rigidity in both the paraspinal and limb muscles. What links here related changes upload file special pages permanent link page information wikidata item. Other occasional findings include lipodystrophy and muscle weakness loeys et al. Stiffperson syndrome sps is a rare neurological disorder with features of an autoimmune disease. 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. Research suggests that sps is also an autoimmune disorder, and people with the syndrome often have other autoimmune disorders such as. Stiff skin syndrome is a rare disorder characterized by pronounced skin induration, mild hypertrichosis and limited joint mobility, predominantly on the buttocks and thighs. Childrens skin disease foundation csdf genetic and.
Not much is known about it, cause or treatment, as it has only been reported 41 times throughout history. These two patients shared heritable stiff skin, restricted joint mobility, and absent mucopolysacchariduria. Stiffperson syndrome or moerschwoltmann is a very rare and disabling neurologic disorder characterized by muscle rigidity and episodic spasms involving axial and limb musculature. It causes progressive muscle stiffness and painful spasms that can be. Causes found for stiff skin conditions sciencedaily.
Stiff skin syndrome sss is a rare syndrome characterized by hard, thick skin, usually on the entire body. His mother describes it as turning his skin to stone. In stiff skin syndrome, which may have two variants. Other signs and symptoms may include excessive hair growth hypertrichosis. This page is a variety of topics on livingcoping with a rare disorder like stiff person syndrome sps, or any chronic. Stiff person syndrome living forward home facebook. The abnormal skin limits movement and can lead to joint deformities called contractures that restrict the movement of certain joints. Nonetheless, it remains medically interesting to develop sensitive and specific assays to. Stiff person syndrome sps is a very rare disease affecting only one or two people per million. The clinical differential diagnosis of stonehard and thickened skin areas. Immunologic abnormalities or vascular hyperactivity are not present in patients not much is known about it, cause or treatment. 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. The most relevant sign was the stonehard skin induration of buttocks and thighs.
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. It is an autoimmune disorder resulting in a malfunction of aminobutyric acid mediated inhibitory networks in the central nervous system. Sudden death in severalmany of a group of pigs during handling, transport, hot days a. Their mission is to help people better understand and learn how to gather information to share with their health care providers to facilitate a diagnosis. Stiff skin syndrome is a rare sclerodermalike disorder of unknown etiology characterized by stonehard indurations of skin, mild hypertrichosis and limited. After consultation with the pediatric rheumatology service, treatment with.
Stiff person syndrome symptoms, diagnosis and treatment. Treatment is supportive, including physical therapy. Stiff skin syndrome sss is a noninflammatory, fibrosing condition of the skin, often affecting the limb girdles. Landrace pigs are at risk of porcine stress syndrome pss. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for stiff skin syndrome. We report that stiff skin syndrome sss, an autosomal dominant congenital form of.
Net is a website that provides support and information regarding stiff person syndrome sps. The onset of signs and symptoms can range from presenting at birth through childhood. 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. Stiff skin syndrome is characterized by hard, thick skin, usually over the entire body, which limits joint mobility and causes flexion contractures. 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. Stiff man syndrome life expectancy doctors answer your. Sss is a diagnosis of exclusion, with a distinctive clinical presentation without pathognomonic laboratory or pathological findings. Awareness ribbon color meanings home orange county. 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 sss is a rare sclerodermalike syndrome of unknown. A case report advanced practice nursing jennifer c. Introduction 20% of outpatient primary care visits are for skin issues in the inpatient setting, both common and potentially lifethreatening dermatologic conditions occur quickly identifying manifestations of serious skin disease can significantly reduce morbidity and mortality.
Stiff skin syndrome is a cutaneous condition characterized by rock hard induration, thickening. A significant treatment effect with ivig was seen, resulting in patients decreased stiffness and heightened sensitivity scores. Figure 3 postural abnormalities and examination fi ndings in stiff person syndrome. Many heterogeneous cases have been reported under the name of stiff skin syndrome. Although considered a rare disorder, stiff person syndrome is likely to be underdiagnosed due to a general lack of awareness of the disease in the medical community. Causes found for stiff skin conditions release date. Stiff skin syndrome sss is primarily considered to be a connective tissue disease, rather than an autoimmune disease.
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