[…] make winter xerosis and “winter itch” common complaints –Mild xerosis can cause impaired skin barrier function and allow irritants and allergens to more easily affect the skin –Most common on the legs, but often affecting the entire skin surface –Can present[checkorphan.org]
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 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]
The segregation proportion in the sibships with at least an affected male was found to be normal (1:1) in 44 series of data (43 from the literature), where a high ascertainment bias was present ( 155 affected and 68 normal males).[onlinelibrary.wiley.com]
[…] such as the large family of ichthyoses (including X-linked ichthyoses, Netherton\'s disease), lead to severely dry skin in association with other systemic manifestations * Hypothyroidism and hyperthyroidism can also cause marked xerosis and/or itch * Anemia[checkorphan.org]
AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT Is also known as ;camt; congenital amegakaryocytic thrombocytopenic purpura Related symptoms: Autosomal recessive inheritance Short stature Scoliosis Anemia Short neck SOURCES: ORPHANET NCIT UMLS DOID[mendelian.co]
Laboratorial data revealed anemia (hemoglobin 5 g/dl; reference: 12.0-19.0 g/dl); white blood cell and blood platelet count were normal. Vitamin B12 serum level was normal and antiparietal cell antibodies were absent, excluding pernicious anemia.[karger.com]
stature Decreased 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[rarediseases.info.nih.gov]
Diseases related with Shortstature and Abnormality of skin pigmentation In the following list you will find some of the most common rare diseases related to Shortstature and Abnormality of skin pigmentation that can help you solving undiagnosed cases[mendelian.co]
Symptoms - Hard skin syndrome Parana type * Stiff skin * Severe growth retardation * Respiratoryinsufficiency 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]
Showing of 14 80%-99% of people have these symptoms Generalized hyperpigmentation 0007440 Restricted chest movement 0006596 30%-79% of people have these symptoms Respiratoryinsufficiency Respiratory impairment 0002093 Tapered finger Tapered fingertips[rarediseases.info.nih.gov]
They also show a typical facies, generalized joint contractures, enlarged fontanelles, clavicular dysplasia, respiratoryinsufficiency, and an enlarged placenta with a short umbilical cord.[cags.org.ae]
Respiratoryinsufficiency may lead to death. The disorder is probably distinguishable from the stiff-skin syndrome ( 184900 ) by the severe growth retardation, more malignant course, and probable mode of inheritance.[omim.org]
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 respiratoryinsufficiency.[thedoctorsdoctor.com]
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]
Osteoporosis: Taking Magnesium, Calcium or other bone supplements? Medication: hypertension medication, hormonal pessaries? Skin: Link to Psoriasis Lifestyle: Alcohol, paracetamol? You probably have high uric acid levels. Follow a low oxalate diet.[medhelp.org]
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]
[…] 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 Excessive hairiness over body 0002230 Hyperkeratosis[rarediseases.info.nih.gov]
Histopathological features include hyperkeratosis, parakeratosis and abnormal keratohyaline granules. The dermoepidermal junction is flat with complete lack of rete ridges.[indianpediatrics.net]
[…] nevus Hypopigmented skin patches Autosomal dominant inheritance Thrombocytosis Macular degeneration Trophic changes related to pain Abnormality of the nail Fine hair Hypotrichosis Ectodermal dysplasia Retinal dystrophy Skeletal dysplasia Sparse hair Hyperkeratosis[mendelian.co]
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]
Print Pages: 4 Number of Figures: 0 Number of Tables: 0 ISSN: 1018-8665 (Print) eISSN: 1421-9832 (Online) For additional information: Abstract Stiff skin syndrome (SSS) is a rare disorder characterized by stony-hard skin, limited joint mobility and mild hypertrichosis[karger.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]
The clinical distinction between hirsutism and hypertrichosis is that hirsutism involves hair growth in a secondary sexual characteristic pattern.[keratin.com]
[…] have scale that resembles cracked porcelain –Secondary erythema and excoriations occur because of the persistent itch * Ichthyoses vulgaris –Very common cause of dry skin –A genetic defect in skin barrier function, leading to a higher risk of atopic dermatitis[checkorphan.org]
Página 54 - Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Página 51 - Selective IgA deficiency: presentation of 30 cases and a review of the literature. [books.google.es]
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.[karger.com]
nipplesWidelyspacednipplesWidely-spacednipples [ more ] 0006610 Percent of people who have these symptoms is not available through HPO Abnormality of abdomen morphology 0001438 Abnormality of the skin 0000951 Autosomal recessive inheritance 0000007[rarediseases.info.nih.gov]
Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widelyspacednipples, and clinodactyly.[mendelian.co]
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]
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]
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 - Hard skin syndrome Parana type * Emollients and humectants should be incorporated into the patient\'s daily routine; Avoid harsh antibacterial soaps, and avoid long, hot baths or showers; Apply rich creams (e.g.[checkorphan.org]
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
The identification of congenital myasthenic syndromes subtypes will prove important in the treatment of these patients.[ncbi.nlm.nih.gov]
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]
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 etiology of these changes remains unclear. We tested several existing hypotheses and could not confirm them.[thedoctorsdoctor.com]
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]
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]
., niacinamide) * Atopic dermatitis Prevention - Hard skin syndrome Parana type Not supplied. Diagnosis - Hard skin syndrome Parana type In cases of diffuse thickening of the skin, a thyroid profile with T 3, T 4, and TSH should be done.[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]
Appropriate dental care may prevent tooth decay, periodontal disease and oral infections as well as improve the patient's quality of life.[karger.com]