The disease is present atbirth or develops early in infancy. In our patient theskin tightness was rst noticed at the age of 1 year byher parents.Two types of SSS have been dened. [myslide.es]

It presents as stone-hard areasof skin that areobserved frombirthor in early childhood.Its etiology is unknown. [docslide.net]

According to Patel et al. 6, fever is present in 86% of the HIV/AIDS patients. [jordi.com.br]

Fig. 1 a Mouth aspect at first clinical presentation. Note the severe atrophic tongue and bilateral angular cheilitis. b Panoramic radiograph taken at first clinical presentation. Note periapical lesions, caries and generalized bone loss. [karger.com]

The moderate group presented a less stable action program expressed in the variability in sequencing and timing. [redalyc.org]

• Turkish

  Two of them were of Algerian ancestry and one Turkish. [cags.org.ae]

  We diagnosed the case as SSS, ofwhich we have not encountered a similar report in the Turkish literature.Sti skin syndrome (SSS) was rst dened in 1971 byEsterly andMcKusick (1). [myslide.es]

  We diagnosed the case as SSS, ofwhich we have not encountered a similar report in the Turkish literature. Sti skin syndrome (SSS) was rst dened in 1971 byEsterly andMcKusick (1). [docslide.net]

• Lymphedema

  SYNDROME 247420 : LUTHERAN NULL 247430 : LYMPHOBLASTIC TRANSFORMATION, INHIBITION OF 247440 : LYMPHEDEMA, CONGENITAL RECESSIVE 247450 : LYMPHOBLASTIC TRANSFORMATION, INTRINSIC DEFECT IN 247610 : LYMPHOID INTERSTITIAL PNEUMONIA; LIP 247630 : LYMPHOID [www5.geometry.net]

• Weight Loss

  Chronic cough, weight loss, appetite loss, fever, and spontaneous oral and nasal bleeding were reported during anamnesis. Five months ago he has been tested for tuberculosis (-) and HIV (+) quick test. [jordi.com.br]

• Respiratory Insufficiency

  They also show a typical facies, generalized joint contractures, enlarged fontanelles, clavicular dysplasia, respiratory insufficiency, and an enlarged placenta with a short umbilical cord. [cags.org.ae]

  Symptoms - Hard skin syndrome Parana type * Stiff skin * Severe growth retardation * Respiratory insufficiency Causes - Hard skin syndrome Parana type * Dry skin is a very common problem –Low humidity and cold temperatures make winter xerosis and “winter [checkorphan.org]

  Respiratory insufficiency may lead to death. [omim.org]

  Showing of 14 | 80%-99% of people have these symptoms Generalized hyperpigmentation 0007440 Restricted chest movement 0006596 30%-79% of people have these symptoms Respiratory insufficiency Respiratory impairment 0002093 Tapered finger Tapered fingertips [rarediseases.info.nih.gov]

  Br J Dermatol. 1992 Dec;127(6):630-4 Abstract quote Restrictive dermopathy is a rare, lethal genodermatosis, characterized by a thin, tightly adherent skin which causes a dysmorphic facies, arthrogryposis and respiratory insufficiency. [thedoctorsdoctor.com]

• Hyperpigmentation

  Signs and Symptoms Generalized hyperpigmentation ... ... [familydiagnosis.com]

  Affiliated tissues include skin, and related phenotypes are generalized hyperpigmentation and restricted chest movement [malacards.org]

  Showing of 14 | 80%-99% of people have these symptoms Generalized hyperpigmentation 0007440 Restricted chest movement 0006596 30%-79% of people have these symptoms Respiratory insufficiency Respiratory impairment 0002093 Tapered finger Tapered fingertips [rarediseases.info.nih.gov]

  An autosomalrecessive type, also known as Parana syndrome, ischaracterized by diuse hardening of skin with jointcontractures, hypertrichosis, hyperpigmentation, and avariety of systemic problems. [myslide.es]

• Hypertrichosis

  The clinical distinction between hirsutism and hypertrichosis is that hirsutism involves hair growth in a secondary sexual characteristic pattern. [keratin.com]

  She hadmild hypertrichosis. The nails, hair, and teeth were nor-mal.The history of the patient was unremarkable. [myslide.es]

  An autosomalrecessive type, also known as Parana syndrome, ischaracterized by diuse hardening of skin with jointcontractures, hypertrichosis, hyperpigmentation, and avariety of systemic problems. [docslide.net]

  Figures: 0 Number of Tables: 0 ISSN: 1018-8665 (Print) eISSN: 1421-9832 (Online) For additional information: https://www.karger.com/DRM Abstract Stiff skin syndrome (SSS) is a rare disorder characterized by stony-hard skin, limited joint mobility and mild hypertrichosis [karger.com]

  18-HYDROXYLASE 203550 : ALOPECIA-CONTRACTURES-DWARFISM MENTAL RETARDATION SYNDROME 203600 : ALOPECIA-EPILEPSY-OLIGOPHRENIA SYNDROME OF MOYNAHAN 203760 : ALPHA-2-DEFICIENT COLLAGEN DISEASE 204110 : AMAUROSIS CONGENITA, CONE-ROD TYPE, WITH CONGENITAL HYPERTRICHOSIS [www5.geometry.net]

• Hirsutism

  The clinical distinction between hirsutism and hypertrichosis is that hirsutism involves hair growth in a secondary sexual characteristic pattern. [keratin.com]

  Details: Languages: eng Pagination: 215-6 Citation Subset: AIM; IM Export Citation: APA/MLA Format Download EndNote Download BibTex MeSH Terms Descriptor/Qualifier: Abnormalities, Multiple / complications* Brazil Child Growth Disorders / complications Hirsutism [biomedsearch.com]

  0007440 Restricted chest movement 0006596 30%-79% of people have these symptoms Respiratory insufficiency Respiratory impairment 0002093 Tapered finger Tapered fingertips Tapering fingers [ more ] 0001182 5%-29% of people have these symptoms Generalized hirsutism [rarediseases.info.nih.gov]

• Skin Disease

  Diseases / complications, diagnosis*, genetics Syndrome From MEDLINE®/PubMed®, a database of the U.S. [biomedsearch.com]

  People with NOMID … Epidermolysis Bullosa April 15, 2018 by Peter Ciszewski Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to become fragile and to blister very easily. [checkrare.com]

  RD is different from the above disorder as it results exclusively from skin disease(1,8) Prenatal diagnosis of RD may be possible by direct examination and biochemical analysis of fetal cells(1,2). [indianpediatrics.net]

• Excoriation

  […] entire skin surface –Can present with severe pruritus without much evidence of a rash * Severe xerosis is common in the elderly, and can cause eczema craquelé –Patient\'s legs often have scale that resembles cracked porcelain –Secondary erythema and excoriations [checkorphan.org]

  Severe genital GVHD may develop in ∼ 12% of women with or without associated systemic GVHD. 68, 69 Patients may present with excoriated or ulcerated mucosa, fissures, narrowing of introitus, or vaginal scarring and obliteration that may lead to hematocolpos [nature.com]

• Osteoporosis

  Additional features include severe growth restriction and osteoporosis. There have been no further descriptions in the literature since 1974.Visit the Orphanet disease page for more resources. [malacards.org]

  Additional features include severe growth restriction and osteoporosis. There have been no further descriptions in the literature since 1974. Last updated: 10/9/2018 This table lists symptoms that people with this disease may have. [rarediseases.info.nih.gov]

  Recommendations for the prevention and treatment of glucocorticoid-induced osteoporosis: 2001 update. American College of Rheumatology Ad Hoc Committee on Glucocorticoid-Induced Osteoporosis. Arthritis Rheum 2001; 44 : 1496–1503. 53. [nature.com]

  CONGENITA, CONE-ROD TYPE, WITH CONGENITAL HYPERTRICHOSIS 204650 : AMELOGENESIS IMPERFECTA, LOCAL HYPOPLASTIC TYPE, RECESSIVE 204690 : AMELOGENESIS IMPERFECTA AND NEPHROCALCINOSIS 204730 : AMINOACIDURIA WITH MENTAL DEFICIENCY, DWARFISM, MUSCULAR DYSTROPHY, OSTEOPOROSIS [www5.geometry.net]

• Decrease in Height

  […] body height Small stature [ more ] 0004322 Wide intermamillary distance Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 Percent of people who have these symptoms is not available through HPO Abnormality of abdomen morphology [rarediseases.info.nih.gov]

• Widely Spaced Nipples

  […] intermamillary distance Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 Percent of people who have these symptoms is not available through HPO Abnormality of abdomen morphology 0001438 Abnormality of the skin 0000951 [rarediseases.info.nih.gov]

  Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly. [mendelian.co]

• Round Face

  face Circular face Round facial appearance Round facial shape [ more ] 0000311 Short stature Decreased body height Small stature [ more ] 0004322 Wide intermamillary distance Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 [rarediseases.info.nih.gov]

• Renal Insufficiency

  insufficiency, are commonly associated with xerosis and marked pruritus * Diabetes mellitus * Medications (e.g., niacinamide) * Atopic dermatitis Prevention - Hard skin syndrome Parana type Not supplied. [checkorphan.org]

Contributors: BMD and BVB were responsible for the neonatal workup. DMT and KKN did the dermatological workup. BMD and KKN drafted the manuscript. DMT and BVB critically reviewed the manuscript. Funding: None. Competing interests: None stated. [indianpediatrics.net]

Further workup (for example, renal ultrasound, renal biopsy), as clinically indicated should be pursued in patients with late-onset acute renal failure or CKD post transplantation. [nature.com]

At least two distinct categories of severe HIV-associated thrombocytopenia exist, one responsive to antiretroviral treatment and one non-responsive to antiretroviral treatment 15. [jordi.com.br]

The identification of congenital myasthenic syndromes subtypes will prove important in the treatment of these patients. [ncbi.nlm.nih.gov]

Abstract/OtherAbstract: Authors: I Cat; N I Magdalena; L P Marinoni; M P Wong; O T Freitas; A Malfi; O Costa; L Esteves; D J Giraldi; J M Opitz Related Documents : 9843086 - Selective degeneration of sudomotor fibers in ross syndrome and successful treatment [biomedsearch.com]

Treatment includes systemic treatment of chronic GVHD and topical treatment to increase lubrication, control evaporation or drainage, and decrease ocular surface inflammation. 18 Temporary or permanent occlusion of the tear-duct puncta for drainage control [nature.com]

After six months of treatment, another CT scan showed reduction in the protrusion and; after one year, the patient recovered her visual acuity and had almost no exophthalmo (Figures 1 and 3 ). [hindawi.com]

Prognosis - Hard skin syndrome Parana type Not supplied. [checkorphan.org]

The bilirubin level in described clinical reports has indicated a good prognosis in disease follow-up with use of ursodeoxycholic acid. [karger.com]

We believethat the differentiation is important because of the dif-ferent course, prognosis, and management.Only after the genetic defect of extracellular organi-zation of collagen fibrils and/or the genetically deter-mined types of collagen in the affected [documents.tips]

Recognition of this syndrome is important for determining the prognosis of affected infants and for recommending genetic counseling to affected families. Restrictive dermopathy with distinct morphological abnormalities. [thedoctorsdoctor.com]

*Departments of *Dermatology and Pathology, Cerrahpasa Medical Faculty, University of Istanbul, and IstanbulRetina Institute, Istanbul, TurkeyAbstract: Stiff skin syndrome (SSS) is a disease similar to sclerodermawith an unknown etiology. [myslide.es]

It presents as stone-hard areasof skin that areobserved frombirthor in early childhood.Its etiology is unknown. [docslide.net]

The management of thrombocytopenia in intensive care will depend on the etiology. The first treatment will be applied causal treatment 17. [jordi.com.br]

The etiology of these changes remains unclear. We tested several existing hypotheses and could not confirm them. [thedoctorsdoctor.com]

These are the preferred methods unless a tissue sample is needed to assess for other potential etiologies of liver dysfunction. [nature.com]

Epidemiology of thrombocytopenia in HIV infection. Eur J Haematol 1992;48(3):168-72. DOI: http://dx.doi.org/10.1111/j.1600-0609.1992.tb00591.x 9. Søgaard OS, Lohse N, Østergaard L, Kronborg G, Røge B, Gerstoft J, et al. [jordi.com.br]

Reksten TR, Jonsson MV: Sjögren's syndrome: an update on epidemiology and current insights on pathophysiology. Oral Maxillofac Surg Clin North Am 2014;26:1-12. [karger.com]

Bronchiolitis obliterans syndrome epidemiology after allogeneic hematopoietic cell transplantation. Biol Blood Marrow Transplant 2011; 17 : 1072–1078. 32. [nature.com]

Electrophysiologic, morphologic, and molecular descriptions of various forms of congenital myasthenic syndromes have led to an enhanced understanding of clinical manifestations and disease pathophysiology. [ncbi.nlm.nih.gov]

Reksten TR, Jonsson MV: Sjögren's syndrome: an update on epidemiology and current insights on pathophysiology. Oral Maxillofac Surg Clin North Am 2014;26:1-12. [karger.com]

Keywords Chronic Diseases Lifestyle Metabolic Syndrome Students Background Metabolic syndrome (MetSynd) is a set of simultaneous pathophysiological changes that increase the risk of chronic diseases [ 1 ] and is associated with increased risk of cardiovascular [bmcpediatr.biomedcentral.com]

Patients should be counseled about preventive measures for bone loss and fractures such as physical exercise, fall prevention, and vitamin D and calcium supplementation. [nature.com]

[…] association between lymphoma and marked xerosis * HIV * Sarcoidosis * Liver and biliary disease, and renal insufficiency, are commonly associated with xerosis and marked pruritus * Diabetes mellitus * Medications (e.g., niacinamide) * Atopic dermatitis Prevention [checkorphan.org]

9 vaccines you NEVER need and exactly why the CDC has to scare everybody into getting them - Living Traditionally Kidney Doctor Says Vaccines Have Never Been Safe Suzanne Humphries, MD "There has never been a safe vaccine" - Vaccine Liberation Army Preventing [pinterest.co.uk]

Guillain-Barré syndrome after vaccination in United States: data from the Centers for Disease Control and Prevention/Food and Drug Administration V. Multiple vaccines can maim and kill. [pinterest.de]