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Yao syndrome (formerly called NOD2 -associated autoinflammatory disease) is a disorder involving episodes of fever and abnormal inflammation affecting many parts of the body, particularly the skin, joints, and gastrointestinal system. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). In people with Yao syndrome, part of the immune system called the innate immune response is turned on (activated) abnormally, which causes fevers and inflammation-related damage to tissues and organs. Based on this process, Yao syndrome is classified as an autoinflammatory disease. Autoinflammatory diseases are distinct from autoimmune diseases; these two groups of diseases involve abnormalities in different parts of the immune system.
A number sign (#) is used with this entry because of evidence that susceptibility to Yao syndrome (YAOS) is conferred by variation in the NOD2 gene (605956) on chromosome 16q12. Description Yao syndrome is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants (Yao and Shen, 2017). Clinical Features Yao et al. (2011) described 7 unrelated patients with apparent autoinflammatory disease with multisystem involvement. Mean age at disease onset was 40.7 years, and the patients characteristically presented with periodic fever, dermatitis, and inflammatory polyarthritis.
Andrews' Diseases of the Skin: Clinical Dermatology . (10th ed.). Saunders. ISBN 0-7216-2921-0 . ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). ... Cutaneous Lymphomas . Informa Health Care. pp. 365–. ISBN 978-0-8247-2997-4 . Retrieved 30 May 2010 .
Eosinophilic pustular folliculitis (EPF) affects the skin causing itchy, red or skin-colored bumps and pustules (bumps containing pus). The papules mostly appear on the face, scalp, neck and trunk and may last for weeks or months. EPF affects males more than females. There are several forms of EPF. Classic eosinophilic pustular folliculitis mainly occurs in Japan. Immunosuppression-associated EPF is mainly associated with HIV infection, but has also been associated with certain cancers and medications. The infantile form of EPF is seen in infants from birth or within the first year of life. The underlying cause of EFP is unknown. All of these forms have similar skin findings.
In the process of secretion, preprochymosin, comprising 381 amino acids, is processed by the signal peptidase into an inactive 365-amino acid prochymosin. At low pH, prochymosin undergoes autocatalytic cleavage of 42 N-terminal amino acids, yielding active chymosin.
A number sign (#) is used with this entry because of evidence that microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, can be caused by homozygous mutation in the LTBP2 gene (602091) on chromosome 14q24. Description Microspherophakia (MSP) is a rare disease characterized by smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens, and highly myopic eyes. Lens dislocation or subluxation may occur, leading to defective accommodation (summary by Ben Yahia et al., 2009). Microspherophakia may occur in association with ectopia lentis and glaucoma, Marfan syndrome (MFS; 154700), and Weill-Marchesani syndrome (WMS; 277600). Clinical Features Ben Yahia et al. (2009) studied a sister and brother with isolated microspherophakia from a consanguineous Tunisian family.
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.
. ^ Matsumoto T, Kuwabara N, Abe H, Fukuda Y, Suyama M, Fujii D, Kojima K, Futagawa S (1992), "Zahn infarct of the liver resulting from occlusive phlebitis in portal vein radicles", American Journal of Gastroenterology , 87 (3): 365–368, PMID 1539574 Reichelt HG (1985), "Partial Budd-Chiari syndrome with Zahn infarct of the liver in venous transmitted tumor thrombosis of a uterine cancer", Röntgen-Blätter (in German), 38 (11): 345–347, PMID 4081553 v t e Ischaemia and infarction Ischemia Location Brain ischemia Heart Large intestine Small intestine Infarction Types Anemic Hemorrhagic Location Heart Brain Spleen Limb Gangrene This article related to pathology is a stub .
Garrod's pads (also known as violinist's pads  ) are a cutaneous condition characterized by calluses on the dorsal aspect of the interphalangeal joints ,  i.e. the back side of the finger joints. They are often seen in violin , viola , and cello players, along with fiddler's neck and other dermatologic conditions peculiar to string musicians.  Although Garrod's pads are conventionally described as appearing on the proximal interphalangeal joint, distal interphalangeal joint involvement has also been described.  Garrod's pads are named after Archibald Garrod who first documented them in 1904 in association with Dupuytren's contracture .  H.A. Bird described them as an incidental finding in a professional violinist and proposed that they arise in such cases due to repeated extreme tension of the extensor tendons over the interphalangeal joints.  Bird noted that violin players use the left hand for a markedly different task than the right hand, with the extensor tendons in the left hand subjected to considerable tension, and that Garrod's pads only arise on the left hand in such cases. This unilateral finding differentiates the occupational hazard of Garrod's pads from more significant disorders. Among violinists and violists, Garrod's pads apparently arise as a protective mechanism for the skin and subcutaneous tissues above the tendons; Bird notes that they do not protect against external trauma unlike most calluses.  Patients with Dupuytren's contracture are four times more likely to have coexisting Garrod's pads.   See also [ edit ] Knuckle pads Harpist's finger Fiddler's neck Cellist's chest Cello scrotum Paget-Schroetter syndrome List of cutaneous conditions List of eponymously named medical signs References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
A number sign (#) is used with this entry because knuckle pads are associated with certain genetic disorders such as epidermolytis palmoplantar keratoderma (144200) or Dupuytren contractures (126900), both of which are autosomal dominant. Knuckle pads are sometimes associated with Dupuytren contractures and it is not completely certain that a different gene is involved. Camptodactyly (114200) also has an uncertain relationship. Skoog (1948) defined knuckle pads as 'subcutaneous nodules on the dorsal aspect of the proximal interphalangeal joints.' Lu et al. (2003) reported association of knuckle pads with epidermolytic palmoplantar keratoderma in a Chinese family and identified a novel leu160-to-phe mutation in the keratin-9 gene (L160F; 607606.0012) as the presumed cause. They presented evidence that both the hyperkeratosis and the knuckle pads were friction-related.
Philadelphia, PA: Mosby/Elsevier. pp. 3927–3931. ISBN 978-0-323-03329-9 . Further reading [ edit ] Edmunds, JO (Aug 2006). "Traumatic dislocations and instability of the trapeziometacarpal joint of the thumb" (PDF) . Hand Clinics . 22 (3): 365–92. doi : 10.1016/j.hcl.2006.05.001 .
Andrews' Diseases of the Skin: clinical Dermatology . Saunders Elsevier. ISBN 978-0-7216-2921-6 . ^ a b Grenader, Tal; Shavit, Linda (Aug 18, 2011). "Scrotal Calcinosis". New England Journal of Medicine . 365 (7): 647. doi : 10.1056/NEJMicm1013803 .
Lippincott Williams & Wilkins. p. 1152. ISBN 0-7817-7513-2 . ^ Pryse-Phillips, William (2003). ... Oxford University Press US. p. 587. ISBN 0-19-515938-1 . ^ Bradley, Walter George (2004). ... Lippincott Williams & Wilkins. p. 2695. ISBN 0-7817-5777-0 . ^ Miller, Neil R.; Frank Burton Walsh; Valérie Biousse; William Fletcher Hoyt (2005). ... Lippincott Williams & Wilkins. p. 1289. ISBN 0-7817-4811-9 . ^ a b Loder, Elizabeth; Dawn A. ... McGraw-Hill Professional. p. 127. ISBN 0-07-105467-7 . ^ G. D. Schott (2007).
To investigate whether rs1617640 was specifically associated with diabetic microvascular complications rather than with complications of type 2 diabetes per se, the authors replicated the study in 365 patients with type 1 diabetes (222100) with both PDR and ESRD, 500 with nephropathy and retinopathy without progression to PDR and ESRD, and 574 type 1 diabetic control patients without nephropathy or retinopathy, and found that the T allele of rs1617640 was significantly associated (p = 2.66 x 10(-8)) with PDR and ESRD; the results were confirmed in a third cohort involving 379 type 1 diabetics with both PDR and nephropathy and 141 diabetic controls (p = 0.021).
A number sign (#) is used with this entry because this form of susceptibility to leprosy (LPRS5) is associated with a polymorphism in the TLR1 gene (601194). A polymorphism in the TLR1 gene is also associated with protection against leprosy. See 609888 for a discussion of leprosy susceptibility in general and information on genetic heterogeneity. Mapping LPRS5 is associated with a polymorphism in the TLR1 gene, which Taguchi et al. (1996) mapped to chromosome 4p14. Molecular Genetics Schuring et al. (2009) studied association of an asn248-to-ser (N248S; 601194.0002) SNP in the TLR1 gene and leprosy in a Bangladeshi population consisting of 842 patients and 543 controls.
See 609888 for a discussion of leprosy susceptibility in general and information on genetic heterogeneity. Mapping In a study in a Vietnamese population, Mira et al. (2003) found significant evidence for a susceptibility gene for leprosy on chromosome region 6q25; maximum likelihood binomial (MLB) lod score was 4.31. They confirmed this by family-based association analysis in an independent panel of 208 Vietnamese leprosy simplex families (i.e., families with 2 unaffected parents and 1 affected child). Mira et al. (2003) confirmed the linkage of paucibacillary leprosy to 10p13 (LPRS1; 609888), as reported by Siddiqui et al. (2001). Their evidence suggested that the 6q25 locus is involved in leprosy of both the paucibacillary and multibacillary types.
A number sign (#) is used with this entry because this form of susceptibility to leprosy (LPRS3) is associated with a polymorphism in the TLR2 gene (603028) on chromosome 4q32. See 609888 for a discussion of leprosy susceptibility in general and information on genetic heterogeneity. Mapping LPRS3 is associated with a polymorphism in the TLR2 gene, which Rock et al. (1998) mapped to chromosome 4q32. Molecular Genetics Kang and Chae (2001) identified an arg677-to-trp polymorphism (R677W; 603028.0001) in the intracellular domain of TLR2 in 10 (22%) of 45 Korean lepromatous leprosy patients, but not in any of 41 Korean tuberculoid patients or 45 Korean controls. They concluded that the R677W polymorphism in TLR2 has a role in susceptibility to lepromatous leprosy.
See 609888 for a discussion of leprosy susceptibility in general and information on genetic heterogeneity. Mapping Zhang et al. (2009) performed a genomewide association study to identify leprosy susceptibility loci in 706 patients and 1,225 controls, all of whom were self-identified Han Chinese from eastern China. Diagnosis was made on the basis of the consensus of at least 2 dermatologists. Patients and controls reported an absence of M. tuberculosis and other chronic infections. Controls lacked a history of leprosy in themselves and their families, as well as autoimmune and systemic disorders.
A chronic infectious disease affecting primarily the skin and peripheral nervous system. Epidemiology Worldwide annual incidence is estimated at 250,000 cases, with a large majority in India and Brazil. Clinical description A wide clinical spectrum has been described from a polar tuberculoid (localized) form (TT) to a polar lepromatous (disseminated) one (LL). Borderline forms exist: borderline tuberculoid, borderline borderline and borderline lepromatous (BT, BB, BL). Tuberculoid leprosy (TLep) or paucibacillary form includes TT and BT and lepromatous leprosy (LLep) or multibacillary form includes LL, BL and BB.
.]: Greenwood Press. p. 351 . ISBN 978-0-313-34102-1 . ^ Pisuthipan, Arusa (6 July 2020). ... Jefferson, N.C.: McFarland. p. 17. ISBN 978-0-7864-6323-7 . Archived from the original on 2016-05-19. ^ "Signs and Symptoms | Hansen's Disease (Leprosy) | CDC" . www.cdc.gov . 2018-10-22 . ... Sherris Medical Microbiology (4th ed.). McGraw Hill. pp. 451 –3. ISBN 978-0-8385-8529-0 . OCLC 61405904 . ^ "Genomics Insights into the Biology and Evolution of Leprosy Bacilli" . ... Univ of Texas Medical Branch. ISBN 978-0-9631172-1-2 . OCLC 33838234 . Archived from the original on 2009-02-12. ^ a b c Bhattacharya S, Vijayalakshmi N, Parija SC (1 October 2002).
Hansen's disease (also known as leprosy) is a rare bacterial infection that affects the skin, nerves and mucous membranes . After exposure, it may take anywhere from 2 to 10 years to develop features of the condition. Once present, common signs and symptoms include skin lesions ; muscle weakness or paralysis; eye problems that may lead to blindness; nosebleeds; severe pain; and/or numbness in the hands, feet, arms and legs. Hansen's disease is caused by the bacterium Mycobacterium leprae; however, the way in which the bacterium is transmitted (spread) is poorly understood. It appears that only about 5% of people are susceptible to the condition.
TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting. Epidemiology Less than 10 cases have been described in the literature. Clinical description TEMPI syndrome manifests in mid-adulthood with the development of telangiectasias mostly on the face, trunk and arms, as well as with erythrocytosis which may cause a red facies and occasionally, headaches. The increased serum erythropoietin levels precede the intrapulmonary shunting. The intrapulmonary shunts cause hypoxia which slowly progresses until the person needs continuous supplemental oxygen.
TEMPI syndrome is a newly discovered, multisystem condition named for 5 characteristics that affected individuals have: T elangiectasias , E rythrocytosis with elevated erythropoietin level , M onoclonal gammopathy , P erinephric-fluid collections (fluid around the kidney), and I ntrapulmonary shunting (when a region of the lungs is supplied with blood but with little or no ventilation). Signs and symptoms of TEMPI syndrome have appeared in mid-adulthood in all known affected individuals. The telangiectasias develop mostly on the face, trunk and arms. The intrapulmonary shunt causes hypoxia (not enough oxygen supply), which slowly progresses until the person needs continuous supplemental oxygen to support their breathing. Blood clots and bleeding in the brain have also been reported in some affected individuals. The cause of TEMPI syndrome is currently unknown. Treatment has reportedly been completely or partially successful with the medication bortezomib .
In earlier tests on tissue and cell samples obtained from patients, ARQ 092 reduced phosphorylation of AKT and downstream targets of AKT in as little as two hours.  The Phase 0 trial opened in November 2015 and recruited patients in a study titled "Dose Finding Trial of ARQ 092 in Children and Adults With Proteus Syndrome"  This trial is based on in vitro data showing inhibition of AKT1 in cell lines from patients with Proteus syndrome.  Notable cases [ edit ] In a 1986 article in the British Medical Journal , Michael Cohen and J.A.R. ... Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 554. ISBN 978-0-7216-2921-6 . ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine . (6th ed.). McGraw-Hill. ISBN 0-07-138076-0 . ^ a b c d El-Sobky, Tamer Ahmed; Elsayed, Solaf M.; El Mikkawy, Dalia M.E. (2015). ... The New England Journal of Medicine . 365 (7): 661–3. doi : 10.1056/NEJMe1107384 . ... "A mosaic activating mutation in AKT1 associated with the Proteus syndrome" . N Engl J Med . 365 (7): 611–9. doi : 10.1056/NEJMoa1104017 .
Andrews' Diseases of the Skin: clinical Dermatology . Saunders Elsevier. ISBN 978-0-7216-2921-6 . ^ Prat C, Lemaire O, Bret J, Zabraniecki L, Fournié B (May 2008). ... Archives de Médecine des Infants . Paris. 32 : 129–135. ISSN 0365-4311 . ^ synd/2108 at Who Named It?
Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a progressive condition that mainly affects the skeleton. The rate at which symptoms worsen varies among affected individuals. The first signs and symptoms of MPS IV usually become apparent during early childhood. Affected individuals develop various skeletal abnormalities, including short stature, knock knees , and abnormalities of the ribs, chest, spine, hips, and wrists. People with MPS IV often have joints that are loose and very flexible (hypermobile), but they may also have restricted movement in certain joints. A characteristic feature of this condition is underdevelopment (hypoplasia) of a peg-like bone in the neck called the odontoid process.
Summary Clinical characteristics. The phenotypic spectrum of mucopolysaccharidosis IVA (MPS IVA) is a continuum that ranges from a severe and rapidly progressive early-onset form to a slowly progressive later-onset form. Children with MPS IVA have no distinctive clinical findings at birth. The severe form is usually apparent between ages one and three years, often first manifesting as kyphoscoliosis, knock-knee (genu valgum), and pectus carinatum; the slowly progressive form may not become evident until late childhood or adolescence often first manifesting as hip problems (pain, stiffness, and Legg Perthes disease). Progressive bone and joint involvement leads to short stature, and eventually to disabling pain and arthritis. Involvement of other organ systems can lead to significant morbidity, including respiratory compromise, obstructive sleep apnea, valvular heart disease, hearing impairment, visual impairment from corneal clouding, dental abnormalities, and hepatomegaly.
Mucopolysaccharidosis type IVA (MPS IVA, also called Morquio syndrome, type A) is a metabolic condition that primarily affects the skeleton. The severity, age of onset, and associated symptoms vary significantly from person to person and range from a severe and rapidly progressive, early-onset form to a slowly progressive, later-onset form. The severe form is usually diagnosed between ages 1 and 3, while the milder form may not become evident until late childhood or adolescence. Signs and symptoms include various skeletal abnormalities such as short stature, knock knees, pectus carinatum , and malformations of the spine, hips and wrists. Affected people may also experience involvement of other organ systems such as respiratory problems, valvular heart disease , hearing impairment, corneal clouding , dental abnormalities, hepatomegaly , and spinal cord compression.