Overview Ingrown toenails are a common condition in which the corner or side of a toenail grows into the soft flesh. The result is pain, inflamed skin, swelling and, sometimes, an infection. Ingrown toenails usually affect the big toe. Ingrown toenail An ingrown toenail may cause pain, inflamed skin, swelling and, sometimes, infection around the toenail. Often you can take care of ingrown toenails on your own. If the pain is severe or spreading, your health care provider can take steps to relieve your discomfort and help you avoid complications of ingrown toenails. If you have diabetes or another condition that causes poor blood flow to your feet, you're at greater risk of complications of ingrown toenails.
Tension myositis syndrome Pseudomedical diagnosis Risks Nocebo Tension myositis syndrome ( TMS ), also known as tension myoneural syndrome or mindbody syndrome is a name given by John E. ... TMS can be considered a psychosomatic condition and has been referred to as a "distraction pain syndrome". [22] Sarno is a vocal critic of conventional medicine with regard to diagnosis and treatment of back pain , which is often treated by rest, physical therapy , exercise and/or surgery. [5] Symptoms [ edit ] Back pain is frequently mentioned as a TMS symptom, [1] [8] [23] [20] but Sarno defines TMS symptoms much more broadly than that: Symptom type: TMS symptoms include pain , stiffness , weakness , tingling , numbness , muscle contractures , cramps and other negative sensations, according to Sarno. ... Ozanich has subsequently written two more books on Tension Myositis Syndrome; Dr. John Sarno's Top 10 Healing Discoveries and Back Pain Permanent Healing: Understanding the Myths, Lies and Confusion. ... "Outcomes of a Mind-Body Treatment Program for Chronic Back Pain with No Distinct Structural Pathology-A Case Series of Patients Diagnosed and Treated as Tension Myositis Syndrome". Alternative Therapies in Health and Medicine . 13 (5): 26–35. ... "Back pain as a distraction pain syndrome (DPS): A window to a whole new dynamic in integrative medicine" .
The exact cause of watermelon stomach is unknown; however, it is often diagnosed in people with other chronic (long-term) conditions such as cirrhosis (scarring of the liver and poor liver function), autoimmune disease, systemic sclerosis , and CREST syndrome . Treatment consists of surgery and/or medications to stop or control the bleeding.
A rare congenital urogenital tract malformation characterized by a small uterus of regular shape (simple uterine hypoplasia), an elongated uterus with normal fundus (elongated uterine hypoplasia), or an abnormally shaped uterus (malformative uterine hypoplasia). Symptoms may include primary amenorrhea, abdominal pain, and infertility.
Normal output of pancreatic enzymes and the absence of bone abnormalities ruled out the diagnosis of Shwachman syndrome (260400), and stability of centromeres and no increase in micronuclei in PHA-stimulated cultures ruled out the ICF syndrome (242860). Stoll et al. (1994) concluded that the associations found in the 3 sibs represented a distinct syndrome with autosomal recessive inheritance.
Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss. Epidemiology Fewer than 100 cases have been reported in the literature. Clinical description The clinical presentation is highly variable even within the same family, ranging from mild skeletal manifestations to multisystem organ involvement. Cardiac malformations (ventricular septal defect, aortic stenosis), developmental delay, cranial nerve palsies, anal malformations, cataracts and nervous system malformations are frequent. Vertebral anomalies (scoliosis, spondylolisthesis), anomalies of extremities (clubfoot, unusually long and thin fingers with clinodactyly of distal phalanges), hypertelorism, frontal bossing, broad nasal bridge, prominent occipital bony protrusion and mild intellectual impairment have also been documented.
A number sign (#) is used with this entry because of evidence that osteopathia striata with cranial sclerosis (OSCS) is caused by mutation in the WTX gene (AMER1; 300647) on chromosome Xq11. Description Osteopathia striata with cranial sclerosis is an X-linked dominant sclerosing bone dysplasia that presents in females with macrocephaly, cleft palate, mild learning disabilities, sclerosis of the long bones and skull, and longitudinal striations visible on radiographs of the long bones, pelvis, and scapulae (Jenkins et al., 2009). In males, the disorder is usually associated with fetal or neonatal lethality. Occasional surviving males have, in addition to hyperostosis, cardiac, intestinal, and genitourinary malformations. Osteosclerosis in the cranial and facial bones leads to disfigurement and to disability due to pressure on cranial nerves, e.g., deafness.
Osteopathia striata with cranial sclerosis (OSCS) causes the bones to become unusually hard and thick. The severity of the condition and the symptoms vary significantly from person to person, even within the same family. Features of the condition are generally present at birth. Symptoms may include skeletal abnormalities at the ends of long bones, hardening (sclerosis) of the bones of the head and face, large head size, and cleft palate. Some people with OSCS may also have developmental delay, hearing loss, heart defects, and breathing and feeding difficulties. Osteopathia striata cranial sclerosis is caused by variants in the AMER1 gene and is inherited in an X-linked dominant pattern.
'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). ... Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). ... This nonsense change occurs within 2 amino acids of a similar nonsense mutation in SLC9A1 (NHE1; 107310) that causes slow-wave epilepsy in mice, and a similar nonsense mutation in the SLC9A6 (NHE6; 300231) gene that causes an Angelman-like syndrome with both autism and epilepsy (300243).
A number sign (#) is used with this entry because of evidence that microphthalmia associated with cleft lip and palate and agenesis of the corpus callosum (MCOPS11) is caused by homozygous mutation in the VAX1 gene (604294) on chromosome 10q25. One such patient has been reported. Clinical Features Slavotinek et al. (2012) studied an Egyptian boy, born of consanguineous parents, in whom bilateral severe microphthalmia and bilateral cleft lip and palate were noted at birth. At age 4 months, his development was delayed, he had no head control, and his anterior fontanel was open. Chest, heart, abdomen, genitalia, skeletal system, skin, and muscle tone were unremarkable, and hearing was reported to be normal. At 3.5 years of age, weight, height, and head circumference were at the 3rd centile, and he had global developmental delay, with a developmental level of 6 months.
Clinical Features Freundlich et al. (1981) studied an Israeli-Arab family in which the parents were first cousins and 4 of 11 sibs had a pellagra-like rash with neurologic manifestations. They thoroughly studied 1 sib, a 14-year-old boy who had first been admitted at age 13 months with a red, scaly rash over the face, upper chest, hands, and legs. The rash disappeared with nicotinamide therapy. During childhood the pellagra-like skin rash recurred several times and was each time cured by nicotinamide. At age 14 years he showed, in addition to rash, confusion, diplopia, dysarthria, and ataxia. Again all clinical abnormalities cleared with nicotinamide. Laboratory findings excluded Hartnup disease: amino aciduria and indicanuria were absent, as was any evidence of tryptophan malabsorption.
Hyporeflexia may have other causes, including hypothyroidism, electrolyte imbalance (e.g. excess magnesium), drug induced (e.g. the symptoms of benzodiazepine intoxication include confusion, slurred speech, ataxia, drowsiness, dyspnea, and hyporeflexia). [1] Diseases associated with hyporeflexia include: Centronuclear myopathy Guillain–Barré syndrome Lambert-Eaton myasthenic syndrome [2] Polyneuropathy (Achilles and plantar reflexes) See also [ edit ] Hyperreflexia , exaggerated reflexes. ... "[Proximal muscle weakness, depressed tendon reflexes and autonomic dysfunction: the Lambert-Eaton myasthenic syndrome]". Nederlands Tijdschrift voor Geneeskunde . 145 (2): 57–61.
Clinical Features Beighton et al. (1978) described an Afrikaner kindred in South Africa in which the mother, her 2 sons, and her daughter had a syndrome of multiple epiphyseal dysplasia, myopia, and conductive deafness. ... See 184000, 226950, and 609324 for syndromes with an overlapping constellation of features. ... This family manifests a dominant-negative mutation, with ocular problems and conductive deafness consistent with Stickler syndrome, but with a radiologic picture of mild multiple epiphyseal dysplasia.
A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia, visual impairment (with early-onset progressive myopia, retinal thinning, and cataracts), and conductive hearing loss. Patients are of short stature and present brachydactyly, genu valgus deformity, and joint pain.
The edemas may involve the digestive tract resulting in a clinical picture similar to that seen in intestinal occlusion syndrome, sometimes associated with ascites and hypovolemic shock. ... Transmission of HAE is autosomal dominant and AAE may be associated with a lymphoproliferative syndrome or the presence of anti-C1-INH autoantibodies. ... Differential diagnosis Differential diagnoses include intestinal occlusion syndrome and histamine-induced angioedema (of allergenic or nonallergenic origin) generally associated with urticaria.
Lanadelumab inhibits the plasma enzyme kallikrein , which liberates the kinins bradykinin and kallidin from their kininogen precursors and is produced in excess in individuals with HAE types I and II. [24] [25] History [ edit ] Heinrich Quincke first described the clinical picture of angioedema in 1882, [26] though there had been some earlier descriptions of the condition. [27] [28] [29] William Osler remarked in 1888 that some cases may have a hereditary basis; he coined the term "hereditary angio-neurotic edema". [30] The link with C1 esterase inhibitor deficiency was proved in 1963. [31] Epidemiology [ edit ] There are as many as 80,000 to 112,000 emergency department (ED) visits for angioedema annually, and it ranks as the top allergic disorder resulting in hospitalization in the U.S. [32] See also [ edit ] Drug-induced angioedema Gleich's syndrome (unexplained angioedema with high eosinophil counts) Ruconest (C1-inhibitor) References [ edit ] ^ a b c d e f g h i j k l m n o p q r s t Bernstein, JA; Cremonesi, P; Hoffmann, TK; Hollingsworth, J (December 2017). ... /24791/ Archived 2014-07-14 at the Wayback Machine External links [ edit ] Classification D ICD - 10 : D84.1 , T78.3 ICD - 9-CM : 277.6 , 995.1 OMIM : 606860 106100 610618 MeSH : D000799 DiseasesDB : 13606 External resources MedlinePlus : 000846 eMedicine : emerg/32 med/135 ped/101 Patient UK : Angioedema Angioedema at Curlie v t e Lymphoid and complement disorders causing immunodeficiency Primary Antibody / humoral ( B ) Hypogammaglobulinemia X-linked agammaglobulinemia Transient hypogammaglobulinemia of infancy Dysgammaglobulinemia IgA deficiency IgG deficiency IgM deficiency Hyper IgM syndrome ( 1 2 3 4 5 ) Wiskott–Aldrich syndrome Hyper-IgE syndrome Other Common variable immunodeficiency ICF syndrome T cell deficiency ( T ) thymic hypoplasia : hypoparathyroid ( Di George's syndrome ) euparathyroid ( Nezelof syndrome Ataxia–telangiectasia ) peripheral: Purine nucleoside phosphorylase deficiency Hyper IgM syndrome ( 1 ) Severe combined (B+T) x-linked: X-SCID autosomal: Adenosine deaminase deficiency Omenn syndrome ZAP70 deficiency Bare lymphocyte syndrome Acquired HIV/AIDS Leukopenia : Lymphocytopenia Idiopathic CD4+ lymphocytopenia Complement deficiency C1-inhibitor ( Angioedema / Hereditary angioedema ) Complement 2 deficiency / Complement 4 deficiency MBL deficiency Properdin deficiency Complement 3 deficiency Terminal complement pathway deficiency Paroxysmal nocturnal hemoglobinuria Complement receptor deficiency v t e Consequences of external causes Temperature Elevated Hyperthermia Heat syncope Reduced Hypothermia Immersion foot syndromes Trench foot Tropical immersion foot Warm water immersion foot Chilblains Frostbite Aerosol burn Cold intolerance Acrocyanosis Erythrocyanosis crurum Radiation Radiation poisoning Radiation burn Chronic radiation keratosis Eosinophilic, polymorphic, and pruritic eruption associated with radiotherapy Radiation acne Radiation-induced cancer Radiation recall reaction Radiation-induced erythema multiforme Radiation-induced hypertrophic scar Radiation-induced keloid Radiation-induced morphea Air Hypoxia / Asphyxia Barotrauma Aerosinusitis Decompression sickness High altitude Altitude sickness Chronic mountain sickness Death zone HAPE HACE Food Starvation Maltreatment Physical abuse Sexual abuse Psychological abuse Travel Motion sickness Seasickness Airsickness Space adaptation syndrome Adverse effect Hypersensitivity Anaphylaxis Angioedema Allergy Arthus reaction Adverse drug reaction Other Electrical injury Drowning Lightning injuries Ungrouped skin conditions resulting from physical factors Dermatosis neglecta Pinch mark Pseudoverrucous papules and nodules Sclerosing lymphangitis Tropical anhidrotic asthenia UV-sensitive syndrome environmental skin conditions Electrical burn frictional/traumatic/sports Black heel and palm Equestrian perniosis Jogger's nipple Pulling boat hands Runner's rump Surfer's knots Tennis toe Vibration white finger Weathering nodule of ear Wrestler's ear Coral cut Painful fat herniation Uranium dermatosis iv use Skin pop scar Skin track Slap mark Pseudoacanthosis nigricans Narcotic dermopathy v t e Disorders of volume state Volume contraction dehydration hypovolemia Hypervolemia Edema Anasarca Cerebral edema Pulmonary edema Angioedema Lymphedema Other Cause of fluid collection Exudate Transudate By site Hydrothorax Ascites Hydrosalpinx Hyperemia
The first trinucleotide repeat disease to be identified was fragile X syndrome , which has since been mapped to the long arm of the X chromosome . Patients carry from 230 to 4000 CGG repeats in the gene that causes fragile X syndrome, while unaffected individuals have up to 50 repeats and carriers of the disease have 60 to 230 repeats. ... Category III includes fragile X syndrome, myotonic dystrophy , two of the spinocerebellar ataxias, juvenile myoclonic epilepsy , and Friedreich's ataxia . ... In some of these diseases, such as Fragile X syndrome, the pathology is caused by lack of the normal function of the protein encoded by the affected gene. ... Annual Review of Neuroscience . 30 (1): 575–621. doi : 10.1146/annurev.neuro.29.051605.113042 . PMID 17417937 . ^ "Fragile XE syndrome" . Genetic and Rare Diseases Information Center (GARD) .
Overview A seborrheic keratosis (seb-o-REE-ik ker-uh-TOE-sis) is a common noncancerous (benign) skin growth. People tend to get more of them as they get older. Seborrheic keratoses are usually brown, black or light tan. The growths (lesions) look waxy or scaly and slightly raised. They appear gradually, usually on the face, neck, chest or back. Seborrheic keratoses on the back Seborrheic keratoses are very common on the back. They appear as waxy light tan, brown or black growths that look as if they were dripped onto the skin by a candle.
The skin lesions of the basal cell nevus syndrome sometimes resemble seborrheic keratoses. ... Molecular Genetics Logie et al. (2005) screened a series of 62 seborrheic keratoses and found 39% of samples harbored somatic activating FGFR3 mutations (see, e.g., 134934.0005 and 134934.0013) identical to those associated with skeletal dysplasia syndromes and bladder and cervical neoplasms.