A review of the clinical range of this disorder and discussion of the differential diagnosis with scleroderma is presented. [ncbi.nlm.nih.gov]

The first case was a 20-year-old man who presented with a syndrome with unusual 17-year history of extensive muscle rigidity and limited joint presentations mobility. [deepdyve.com]

• Sepsis

  Fulminating sepsis, especially when gram-negative bacteria are involved, is the most common cause. [medical-dictionary.thefreedictionary.com]

  Respiratory distress syndrome can sometimes accompany a disorder, such as infection in the blood ( sepsis ) or transient tachypnea of the newborn. Therefore, doctors may do other tests to rule out these disorders. [merckmanuals.com]

  ISH presents in early life with growth failure, painful, reduced movements of the limbs with joint contractures and osteoporosis, diffuse as well as nodular thickening of skin, gingival hyperplasia, severe chronic diarrhea, multiple sepsis and ultimately [idoj.in]

• Joint Stiffness

  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 [ncbi.nlm.nih.gov]

  Swelling and joint stiffness usually follow, along with increased warmth and redness in the affected limb. There may be faster-than-normal nail and hair growth and excessive sweating. Stage II: Dystrophic Stage II can last 3 to 12 months. [orthoinfo.aaos.org]

  Fibrillin-integrin interactions and Stiff Skin syndrome Apart from MFS, mutations in fibrillin-1 have recently been associated with Stiff Skin Syndrome (SSS; MIM #184900), which is a congenital autosomal dominant form of scleroderma. [www2.bioch.ox.ac.uk]

  The authors present a case of a two-year-old boy with progressive skin hardening since he was eightmonth old and secondary restricted joint mobility, diagnosed as Stiff skin syndrome. [scielo.br]

Sclerodera Workup. Medscape. Available online at http://emedicine.medscape.com/article/331864-workup. Accessed September 2013. Scleroderma: An Overview. Cleveland Clinic. [labtestsonline.it]

Enhanced exteroceptive reflexes, rather than CMUA, are characteristic for SPS and therefore a helpful tool in the diagnostic workup. [movementdisorders.org]

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]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

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]

While it remains unknown what triggers similar molecular events in scleroderma, these findings do suggest a number of potential treatment strategies, Dietz said. [gazette.jhu.edu]

Prognosis. The calcifying fibrous pseudo-tumour has an excellent prognosis. It is a slowly growing mass that is usually successfully treated by surgical excision. [plasticsurgerykey.com]

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]

Outlook / Prognosis What is the prognosis for stiff person syndrome? Stiff person syndrome is a chronic (lifelong) condition. The prognosis (outlook) varies from person to person based on a few factors, including: Symptom severity. [my.clevelandclinic.org]

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]

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]

Etiology Mutations in the FBN1 gene, which encodes fibrillin-1, a protein involved in elastic fiber assembly, were reported. These mutations could lead to altered cell-matrix interactions and to fibrotic changes. [dermatologyadvisor.com]

[…] meses de idade e restrição secundária da mobilidade articular, diagnosticado como Síndrome stiff skin Contratura; Doenças Raras; Escleroderma sistêmico; Fascia; Mucopolissacaridoses Stiff skin syndrome is a rare scleroderma-like disorder of unknown etiology [scielo.br]

Most of the sss patients histolopathologies showed a non-inflammatory, thickened and hyalinized fascia accompanied by dermal fibrosis.6 Conclusion Stiff skin syndrome is a rare syndrome with unknown etiology and pathogenesis, characterized by an early [medcraveonline.com]

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]

Epidemiology of Connective Tissue Disease. Rheumatology (Oxford). 2006;4 (Suppl 3):iii3-4. Shoenfeld Y, Meroni PL. The General Practice Guide to Autoimmune Diseases. Lengerich: Pabst Science Publishers; 2012. Fischer-Betz R, Schneider M. [thermofisher.com]

Epidemiology Given the anatomical complexity of the thoracic and shoulder areas, the potential sources of pain in this region are numerous. [3] [4] Some clinicians have found that long-standing visceral problems have been pushed into the background when [physio-pedia.com]

Epidemiology Frequency Stiff person syndrome is rare. [emedicine.medscape.com]

Reactive arthritis attributable to Shigella infection: a clinical and epidemiological nationwide study. Annals of Rheumatologic Diseases. 64:594-598, available at http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1755450/ Barth WF, Segal K. (1999). [foodpoisonjournal.com]

Additional possible pathophysiologic etiologies in patients negative for GAD antibody include postsynaptic elements such as synaptophysin, amphiphysin, [24] gephyrin, [25] and GABA-transaminase. [emedicine.medscape.com]

Pathophysiology Light microscopy shows dermal thickening with abundant collagen with increased cellularity (Figure 3, Figure 4). Important inflammation or vessel changes are not seen. [dermatologyadvisor.com]

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]

Pathophysiological Mechanisms in Sclerosing Skin Diseases. Frontiers in Medicine. 2017; 4:120. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5563304/. Myers KL, Mir A, Schaffer JV, Meehan SA, Orlow SJ, and Brinster NK. [rarediseases.info.nih.gov]

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]

'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]