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Stiff Skin Syndrome


Presentation

  • A review of the clinical range of this disorder and discussion of the differential diagnosis with scleroderma is presented.[ncbi.nlm.nih.gov]
  • We describe a case of a 7-year-old with stiff skin syndrome, and review the literature to discuss the clinical presentation, histological findings, and management of this condition.[ncbi.nlm.nih.gov]
  • The authors present a case of a two-year-old boy with progressive skin hardening since he was eight-month old and secondary restricted joint mobility, diagnosed as Stiff skin syndrome.[ncbi.nlm.nih.gov]
  • We present a severe case in a 4-year-old boy.[ncbi.nlm.nih.gov]
  • Here we present the associated ocular phenotype in a two generation nonconsanguineous Northern Irish family.METHODS The affected patients underwent complete ophthalmic and orthoptic assessment and genetic testing.RESULTS All three patients had ophthalmoplegia[ncbi.nlm.nih.gov]
Inguinal Hernia
  • In addition to the clinical and histological features of SSS, our patient also had muscle and bone involvement along with pyloric stenosis, gastro-esophageal reflux, inguinal hernias and atopic dermatitis.[ncbi.nlm.nih.gov]
Turkish
  • We diagnosed the case as SSS, of which we have not encountered a similar report in the Turkish literature.[ncbi.nlm.nih.gov]
Tall Stature
  • The majority of mutations affecting the human fibrillin-1 gene, FBN1, result in Marfan syndrome (MFS), a common connective tissue disorder characterised by tall stature, ocular and cardiovascular defects.[ncbi.nlm.nih.gov]
Developmental Delay
  • Family Membership is open to those affected by a Rare Chromosome Disorder or certain Autosomal Dominant Single Gene Disorders causing as a minimum learning disability/developmental delay, among other symptoms.[rarechromo.org]
Hypertrichosis
  • Stiff skin syndrome is a rare scleroderma-like disorder of unknown etiology characterized by stone-hard indurations of skin, mild hypertrichosis and limited joint mobility. No effective treatment has yet been found.[ncbi.nlm.nih.gov]
  • Stiff skin syndrome is a rare cutaneous disease, scleroderma-like disorder that presents in infancy or early childhood with rock-hard skin, limited joint mobility, and mild hypertrichosis.[ncbi.nlm.nih.gov]
  • Stiff skin syndrome (SSS) is a rare disorder characterized by stony-hard skin, limited joint mobility and mild hypertrichosis. We present a severe case in a 4-year-old boy.[ncbi.nlm.nih.gov]
  • PURPOSE Stiff skin syndrome (SSS; MIM#184900) is a rare autosomal dominantly inherited Mendelian disorder characterised by thickened and stone-hard indurations of the skin, mild hypertrichosis, and limitation of joint mobility with flexion contractures[ncbi.nlm.nih.gov]
  • There was associated hypertrichosis in 3 of 6 cases. Extracutaneous manifestations consisted primarily of joint restriction, and several patients had resulting postural and thoracic wall irregularities.[ncbi.nlm.nih.gov]
Flexion Contracture
  • PURPOSE Stiff skin syndrome (SSS; MIM#184900) is a rare autosomal dominantly inherited Mendelian disorder characterised by thickened and stone-hard indurations of the skin, mild hypertrichosis, and limitation of joint mobility with flexion contractures[ncbi.nlm.nih.gov]
  • She had been diagnosed with flexion contractures of fingers and elbows at 7 years of age and was found to have thickened skin on her hands and arms.[ncbi.nlm.nih.gov]
  • Stiff Skin Syndrome (SSS) Stiff skin syndrome (SSS) is a rare condition characterized by hard, thick skin (usually on the entire body), which limits joint mobility and causes flexion contractures (when joints are stuck in a bent position).[sclero.org]
Joint Limitation
  • Stiff skin syndrome (SSS) is a rare scleroderma-like syndrome characterised by stone hard skin, joint limitation and progressive restriction of chest that may lead to death.[ncbi.nlm.nih.gov]
Hyperactivity
  • Patients do not present immunologic abnormalities or vascular hyperactivity. We describe two adults who initially were diagnosed suffering from scleroderma but fit criteria for stiff skin syndrome.[ncbi.nlm.nih.gov]
  • Immunologic abnormalities or vascular hyperactivity are not present in patients.Not much is known about it, cause or treatment, as it has only been reported 41 times throughout history.[en.wikipedia.org]
  • The once-hyperactive Jaiden is mostly confined to a wheelchair and no longer able to attend school with his friends. Everyday the pain from the disorder grows worse. Jaiden is the first to point out new, hard spots of skin.[chivecharities.org]

Workup

  • Enhanced exteroceptive reflexes, rather than CMUA, are characteristic for SPS and therefore a helpful tool in the diagnostic workup.[movementdisorders.org]
Nephrolithiasis
  • […] genetic, skin Phenotypes Abnormality of lipid metabolism ; Aplasia/Hypoplasia of the skin ; Glaucoma ; Hypertension ; Impaired pain sensation ; Lack of skin elasticity ; Limitation of joint mobility ; Lipoatrophy ; Midface retrusion ; Muscle weakness ; Nephrolithiasis[mousephenotype.org]

Treatment

  • No effective treatment has yet been found. Exercises and rehabilitative therapy are important in maintaining the patient's quality of life.[ncbi.nlm.nih.gov]
  • For now, there's no cure and really no treatment. Dr Elizabeth Swanson with the Children's Hospital in Colorado said that she had 'kind of exhausted the medical library trying to come up with a treatment'.[dailymail.co.uk]
  • Immunologic abnormalities or vascular hyperactivity are not present in patients.Not much is known about it, cause or treatment, as it has only been reported 41 times throughout history.[en.wikipedia.org]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • As it is a condition with limited treatment options, prompt diagnosis and early initiation of physical therapy is crucial to prevent joint restriction and maintain quality of life.[ncbi.nlm.nih.gov]

Prognosis

  • Not much is known about the condition or its prognosis. Basically as Derek grows, his skin won't grow with him and continually tightens up around him. Derek just turned 18 last month. This makes doing anything painful and difficult.[ireport.cnn.com]
  • Prognosis - Isaac's syndrome There is no cure for Isaac\'s syndrome.[checkorphan.org]
  • What is the prognosis for Stiff-Person syndrome? Treatment with IVIg, anti- anxiety drugs, muscle relaxants, anti-convulsants, and pain relievers will improve the symptoms of Stiff-Person syndrome, but will not cure the disorder.[medicinenet.com]
  • The prognosis is worst for those who have heart, lung, or, particularly, kidney damage. The prognosis for people who have limited systemic sclerosis (CREST syndrome) tends to be more favorable.[merckmanuals.com]
  • Prognosis of Stiff Person Syndrome Even though the treatment for the Stiff Person Syndrome is available but that does no cure the syndrome. The patients suffering from the Stiff Person Syndrome generally live with the muscle pain and stiffness.[syndromespedia.com]

Etiology

  • Stiff skin syndrome (SSS) is a disease similar to scleroderma with an unknown etiology. Stone-hard areas of skin are observed from birth or in early childhood.[ncbi.nlm.nih.gov]
  • Stiff skin syndrome is a rare scleroderma-like disorder of unknown etiology characterized by stone-hard indurations of skin, mild hypertrichosis and limited joint mobility. No effective treatment has yet been found.[ncbi.nlm.nih.gov]
  • […] pulmonary edema and respiratory failure, poor oxygenation, functional residual capacity, and compliance; ARDS may accompany various medical and surgical conditions and may be associated with interstitial pneumonitis–usual, desquamative and lymphoid types Etiology[medical-dictionary.thefreedictionary.com]

Epidemiology

  • The genetic epidemiology of joint hypermobility: a population study of female twins. Arthritis Rheum 2004;50(8):2640-4. 3. Prockop DJ, Kivirikko KI. Collagens: molecular biology, diseases, and potentials for therapy.[tihcij.com]
Sex distribution
Age distribution

Pathophysiology

  • This is most likely due to the same pathophysiology as the limb contractions and dermatological findings; giant collagen fibril formation without inflammation in the extraocular fascia network. 5, 6 Ophthalmoplegia has not been documented in previous[ncbi.nlm.nih.gov]
  • This is most likely due to the same pathophysiology as the limb contractions and dermatological findings; giant collagen fibril formation without inflammation in the extraocular fascia network. 5 , 6 Ophthalmoplegia has not been documented in previous[nature.com]

Prevention

  • As it is a condition with limited treatment options, prompt diagnosis and early initiation of physical therapy is crucial to prevent joint restriction and maintain quality of life.[ncbi.nlm.nih.gov]
  • We show that substitutions in fibrillin-1 domains TB4 and TB5 that cause SSS and the acromelic dysplasias do not prevent fibrillin-1 from being secreted or assembled into microfibrils, whereas MFS-associated substitutions in these domains result in a[ncbi.nlm.nih.gov]
  • 'He wears a medical mask to prevent infections or viruses he would not be able to fend off due to his weakened immune system,' the website reads.[dailymail.co.uk]
  • The information presented here is not intended to diagnose, treat, cure or prevent any disease. Read disclaimer.[gulfdoctor.net]
  • Your skin Holds body fluids in, preventing dehydration Keeps harmful microbes out, preventing infections Helps you feel things like heat, cold, and pain Keeps your body temperature even Makes vitamin D when the sun shines on it Anything that irritates[icdlist.com]

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