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Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. ... Smith et al. (1998) stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas (184500) is a major clinical feature. ... On the basis of a study of 13 patients with PC type 1 or type 2, Terrinoni et al. (2001) concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts. Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis.
Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa. Epidemiology The prevalence is not known but approximately 1000 patients have been registered to date worldwide. Clinical description PC presents clinically as a spectrum of conditions. PC onset is variable with most cases manifesting soon after birth, others becoming clinically apparent only in late childhood and rarely in adulthood. The first signs of the disease usually are thickened nails or neonatal teeth.
Pachyonychia congenita (PC) is a rare inherited condition that primarily affects the nails and skin. The fingernails and toenails may be thickened and abnormally shaped . Affected people can also develop painful calluses and blisters on the soles of their feet and less frequently on the palms of their hands ( palmoplantar keratoderma ). Additional features include white patches on the tongue and inside of the mouth (leukokeratosis); bumps around the elbows, knees, and waistline (follicular hyperkeratosis); and cysts of various types including steatocystoma. Features may vary among affected people depending on their specific mutation.
For a phenotypic description and a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. Inheritance Chong-Hai and Rajagopalan (1977) suggested autosomal recessive inheritance of pachyonychia congenita in a 4-year-old Malaysian girl with first-cousin parents, although they recognized new dominant mutation as a possibility. See also Sivasundram et al. (1985). INHERITANCE - Autosomal recessive HEAD & NECK Mouth - No oral leukoplakia SKIN, NAILS, & HAIR Skin - Horny papules (face, leg, buttocks) - No palmoplantar hyperkeratosis - No hyperhidrosis Nails - Episodic inflammatory swelling of nail bed - Recurrent shedding of nails - Hard,thickened nails (pachyonychia) - Subungual hyperkeratosis MISCELLANEOUS - See also pachyonychia congenita, type 3 (PC1, 167200 ) ▲ Close
Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. ... Smith et al. (1998) stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas (184500) is a major clinical feature. ... On the basis of a study of 13 patients with PC type 1 or type 2, Terrinoni et al. (2001) concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts. Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis.
A number sign (#) is used with this entry because of evidence that pachyonychia congenita-2 (PC2) is caused by heterozygous mutation in the KRT17 gene (148069) on chromosome 17q21. ... Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. ... On the basis of a study of 13 patients with PC type 1 or type 2, Terrinoni et al. (2001) concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts. Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis.
Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. ... On the basis of a study of 13 patients with PC type 1 or type 2, Terrinoni et al. (2001) concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts. Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis. Genetic Heterogeneity of Pachyonychia Congenita See pachyonychia congenita-2 (PC2; 167210), caused by mutation in the KRT17 gene (148069) on chromosome 17; PC3 (615726), caused by mutation in the KRT6A gene (148041) on chromosome 2; and PC4 (615728), caused by mutation or in the KRT6B gene (148042) on chromosome 12.
Also used is cryosurgery and radiotherapy . [2] Prognosis [ edit ] The prognosis varies dramatically, depending on the type and stage at the time of treatment. However, the most common epitheliomas are very easily treated and rarely result in death. [2] The condition did, however, take the life of Scottish golfer Willie Dunn, Sr. in 1878 at a time when the ailment was likely not fully understood. [3] See also [ edit ] Mule spinners' cancer References [ edit ] ^ a b c Encyclopædia Britannica. ... Types, treatment methods, and prognosis". Postgrad Med . 73 (2): 161–8. doi : 10.1080/00325481.1983.11697763 . PMID 6823454 . ^ "Deaths in the district of Inveresk and Musselburgh in the County of Edinburgh" . Statutory Deaths 689/00 0032 . ScotlandsPeople . Retrieved 11 April 2015 . External links [ edit ] Classification D ICD-O : 8011/0, 8011/3 Wikimedia Commons has media related to Epithelioma .
They are most common in post- menarche , pre- menopausal women who have been pregnant. Contents 1 Signs and symptoms 2 Cause 3 Diagnosis 3.1 Structure 4 Treatment 5 Prognosis 6 Epidemiology 7 See also 8 References 9 External links Signs and symptoms [ edit ] Cervical polyps often show no symptoms. [2] Where there are symptoms, they include intermenstrual bleeding, abnormally heavy menstrual bleeding ( menorrhagia ), vaginal bleeding in post- menopausal women, bleeding after sex and thick white vaginal or yellowish discharge ( leukorrhoea ). [3] [4] [5] [6] Cause [ edit ] The cause of cervical polyps is uncertain, but they are often associated with inflammation of the cervix. [7] They may also occur as a result of raised levels of estrogen or clogged cervical blood vessels. [3] Diagnosis [ edit ] Cervical polyps can be seen during a pelvic examination as red or purple projections from the cervical canal . [3] Diagnosis can be confirmed by a cervical biopsy which will reveal the nature of the cells present. [3] Structure [ edit ] Cervical polyps are finger-like growths, generally less than 1 cm in diameter. [3] [4] They are generally bright red in colour, with a spongy texture. [2] They may be attached to the cervix by a stalk (pedunculated) and occasionally prolapse into the vagina where they can be mistaken for endometrial polyps or submucosal fibroids . [4] Treatment [ edit ] Cervical polyps can be removed using ring forceps . [8] They can also be removed by tying surgical string around the polyp and cutting it off. [3] The remaining base of the polyp can then be removed using a laser or by cauterisation . [3] If the polyp is infected, an antibiotic may be prescribed. [3] Prognosis [ edit ] 99% of cervical polyps will remain benign and 1% will at some point show neoplastic change. [9] Cervical polyps are unlikely to regrow. [3] Epidemiology [ edit ] Cervical polyps are most common in women who have had children and perimenopausal women. [2] They are rare in pre-menstrual girls and uncommon in post-menopausal women. [6] See also [ edit ] Endometrial polyp References [ edit ] ^ Boon, Mathilde E.; Albert J. ... Lippincott Williams & Wilkins. pp. 254–256. ISBN 0-7817-3905-5 . ^ a b c d e f g h i Smith, Melanie N. (2006-05-10). ... Cambridge University Press . p. 77. ISBN 1-900151-51-0 . ^ Papadakis, Maxine A.; Stephen J. ... McGraw-Hill Professional. p. 60. ISBN 0-07-145892-1 . ^ a b Bosze, Peter; David M. ... Informa Health Care. p. 66. ISBN 963-00-7356-0 . ^ "Cervical Polyps" (PDF) .
Frequently the rash first appeared in the spring or summer months and involved sun-exposed skin. [2] The rash starts as a vesicular eruption, later becoming umbilicated, and resulted in vacciniform scarring. It is most frequently found on the nose, cheeks, ears, dorsum of the hand, and arms (places that are most exposed to light). [3] Contents 1 Causes 2 Natural History 3 Diagnosis 4 Treatment 5 See also 6 References 7 External links Causes [ edit ] Hydroa vacciniforme is commonly associated with reactivation of a latent Epstein-Barr virus (EBV) formerly acquired by an asymptomatic or infectious mononucleosis -causing infection]]. ... "Hydroa vacciniforme: A clinical and follow-up study of 17 cases". J Am Acad Dermatol . Feb, 42(2 Pt 1) (2): 208–13. doi : 10.1016/s0190-9622(00)90127-0 . ... Andrews' Diseases of the Skin: clinical Dermatology . Saunders Elsevier. ISBN 0-7216-2921-0 . ^ Rezk SA, Zhao X, Weiss LM (September 2018). ... "Epstein-Barr Virus-associated Lymphoproliferative Disorders in the Skin". Surgical Pathology Clinics . 10 (2): 429–453. doi : 10.1016/j.path.2017.01.001 .
A rare photodermatosis characterized by the development of pruritic or painful vesicles in a photodistributed pattern in response to sunlight exposure. The lesions heal with permanent varioliform scarring. Ocular involvement, deformities of ears and nose, or contractures of the fingers may occasionally be observed. Systemic signs and symptoms are absent. The condition typically occurs in childhood and regresses spontaneously in adolescence or young adulthood.
Doege–Potter syndrome The structure of IGF-2, responsible for the hypoglycemia associated with Doege–Potter syndrome Specialty Oncology Doege–Potter syndrome (DPS) is a paraneoplastic syndrome [1] in which hypoglycemia is associated with solitary fibrous tumors . The hypoglycemia is the result of the tumors producing insulin-like growth factor 2 . [2] The syndrome was first described in 1930, by Karl Walter Doege (1867–1932), a German-American physician [3] and by Roy Pilling Potter (1879–1968), an American radiologist, working independently; [4] the full term Doege–Potter syndrome was infrequently used until the publication of a 2000 article [5] using the eponym . [6] DPS is rare (as of 1976, less than one hundred cases were described [7] ), with a malignancy rate of 12–15%. ... Surg . 119 (1): 185–7. doi : 10.1016/S0022-5223(00)70242-X . PMID 10612786 . Archived from the original on 2013-01-12. ^ a b Shields, TW; LoCicero J; Ponn RB; Rusch VW (2005). ... Hagerstwon, MD: Lippincott Williams & Wilkins. pp. 893 . ISBN 0-7817-3889-X . ^ Ellorhaoui M, Graf B (February 1976). ... Cancer . 47 (11): 2678–89. doi : 10.1002/1097-0142(19810601)47:11<2678::AID-CNCR2820471126>3.0.CO;2-9 . PMID 7260861 . ^ a b Zafar H, Takimoto CH, Weiss G (2003).
Tumors can be found in the trunk, upper and lower extremities, retroperitoneum, and in the cervical and facial areas. [2] This consumptive coagulopathy also uses up clotting factors , such as fibrinogen which may worsen bleeding. ... Patients uniformly show severe thrombocytopenia, low fibrinogen levels, high fibrin degradation products (due to fibrinolysis ), and microangiopathic hemolysis . [2] Management [ edit ] Management of Kasabach–Merritt syndrome, particularly in severe cases, can be complex and require the joint effort of multiple subspecialists. ... Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 597. ISBN 978-0-7216-2921-6 . ^ a b c d e Hall G (2001). ... "Kasabach–Merritt syndrome". J Pediatr Surg . 23 (2): 109–11. doi : 10.1016/S0022-3468(88)80135-0 . ... "Residual lesions after Kasabach–Merritt phenomenon in 41 patients". J Am Acad Dermatol . 42 (2 Pt 1): 225–35. doi : 10.1016/S0190-9622(00)90130-0 .
The hemangioma eventually regressed with radiotherapy. David et al. (1983) reported 2 unrelated infants with thrombocytopenia and hemangiomas of the neck and left knee, respectively, both of whom were treated with corticosteroids without notable improvement.
Hemangioma thrombocytopenia syndrome is characterized by profound thrombocytopenia in association with two rare vascular tumors: kaposiform hemangioendotheliomas and tufted angiomas . The profound thrombocytopenia can cause life threatening bleeding and progress to a disseminated coagulopathy in patients with these tumors. The condition typically occurs in early infancy or childhood, although prenatal cases (diagnosed with the aid of ultrasonography), newborn presentations, and rare adult cases have been reported.
Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma.
While lack of awareness by patient or doctor of adverse drug reactions can have serious consequences, having a phobia of medications can also have serious detrimental effects on patient health, for example refusal of necessary pharmacological interventions. [2] [3] [4] Medication phobia can also lead to problems with medication compliance. [5] Medication phobia can also present in parents who are concerned about giving medications to their children, [6] fearing that the medications will do more harm than good. [7] Medication phobia can be triggered by unpleasant adverse reactions to medications which are sometimes prescribed inappropriately or at excessive doses. ... Clin Dermatol . 19 (1): 69–71. doi : 10.1016/S0738-081X(00)00215-7 . PMID 11369491 . ^ "Drugs that call for extra caution. ... New York: Simon Schuster. p. 56. ISBN 978-0-684-87309-1 . ^ M.d. Kamath, Bob (30 May 2007). ... Kendall Hunt Publishing. p. 25. ISBN 978-0-7872-8701-6 . ^ Ashton CH (2002).
Boca Raton: CRC. pp. 26–32. ISBN 978-0-8493-8138-6 . Retrieved 2008-07-06 . ^ a b Porth, Carol (2007). ... "Animal models of post-traumatic epilepsy". Journal of Neurotrauma . 23 (2): 241–261. doi : 10.1089/neu.2006.23.241 . ... Neurotrauma: New Insights Into Pathology and Treatment . Elsevier. pp. 13–19. ISBN 978-0-444-53017-2 . Retrieved 2008-06-10 . ^ a b Granacher RP (2007). ... "Dose-response curve and optimal dosing regimen of cyclosporin A after traumatic brain injury in rats". Neuroscience . 101 (2): 289–95. doi : 10.1016/S0306-4522(00)00380-8 . ... "Epidemiology of trauma deaths: A reassessment". J Trauma . 38 (2): 185–93. doi : 10.1097/00005373-199502000-00006 .
Fitzpatrick's Dermatology in General Medicine (6th ed.). McGraw-Hill. ISBN 0-07-138076-0 . ^ James W, Berger T, Elston D (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. ISBN 0-7216-2921-0 . ^ Pardasani AG, Feldman SR, Clark AR (February 2000). ... Annals of the Rheumatic Diseases . 64 Suppl 2 (suppl 2): ii18-23, discussion ii24-5. doi : 10.1136/ard.2004.033217 . ... Journal of the American Academy of Dermatology . 42 (5 Pt 2): 885–7. doi : 10.1016/s0190-9622(00)90263-9 . ... The Cochrane Database of Systematic Reviews (2): CD001213. doi : 10.1002/14651858.CD001213 .
Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body. It is a relatively uncommon form of psoriasis . The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immune system to sunlight and phototherapy.
Fourth disease Other names Filatov-Dukes' disease Specialty Infectious disease See also: Scarlet fever Dukes' disease , named after Clement Dukes, [1] also known as fourth disease [2] or Filatov-Dukes' disease (after Nil Filatov ), [3] is an exanthem . It is distinguished from measles or forms of rubella , though it was considered as a form of viral rash . [2] Although Dukes identified it as a separate entity, it is thought not to be different from scarlet fever caused by exotoxin-producing Streptococcus pyogenes after Keith Powell proposed equating it with the condition currently known as staphylococcal scalded skin syndrome in 1979. [2] [4] It was never associated with a specific pathogen, [5] and the terminology is no longer in use. [2] However, a mysterious rash of unknown cause in school children often gives rise to the question of whether it could be Dukes' disease. [6] Contents 1 Signs and symptoms 2 Diagnosis 3 References 4 External links Signs and symptoms [ edit ] Signs and symptoms may include fever , nausea , vomiting , and diarrhea , along with typical viral symptoms of sensitivity to light , enlarged lymph nodes , sore throat , and possibly brain inflammation . ... The Lancet . 156 (4011): 89–95. doi : 10.1016/S0140-6736(00)65681-7 . ^ a b c d Weisse, ME (31 December 2000). ... The Lancet . 357 (9252): 299–301. doi : 10.1016/S0140-6736(00)03623-0 . PMID 11214144 . S2CID 35896288 . ^ Dukes-Filatov disease at Who Named It?
Pathophysiology [ edit ] The syndrome is induced by epidermolytic exotoxins ( exfoliatin ) [2] A and B, which are released by S. aureus and cause detachment within the epidermal layer, by breaking down the desmosomes . ... The Lancet . 156 (4011): 89–95. doi : 10.1016/S0140-6736(00)65681-7 . ^ Weisse, Martin E (31 December 2000). ... The Lancet . 357 (9252): 299–301. doi : 10.1016/S0140-6736(00)03623-0 . PMID 11214144 . S2CID 35896288 . ^ Powell, KR (January 1979). ... The Journal of Pediatrics . 78 (6): 958–67. doi : 10.1016/S0022-3476(71)80425-0 . PMID 4252715 . ^ Morens, David M; Katz, Alan R; Melish, Marian E (31 May 2001). ... The Lancet . 357 (9273): 2059. doi : 10.1016/S0140-6736(00)05151-5 . PMID 11441870 . S2CID 35925579 .
A rare staphylococcal toxemia caused by epidermolytic toxins of Staphylococcus aureus and characterized by the appearance of widespread erythematous patches, on which large blisters develop. Upon rupture of these blisters, the skin appears reddish and scalded. The lesions typically begin in the face and rapidly expand to other parts of the body. The disease may be complicated by pneumonia and sepsis. It most commonly affects newborns and infants.
Lisch epithelial corneal dystrophy Other names Band-shaped and whorled microcystic dystrophy of the corneal epithelium X-linked recessive is the inheritance pattern of this condition Specialty Ophthalmology Lisch epithelial corneal dystrophy (LECD), also known as band-shaped and whorled microcystic dystrophy of the corneal epithelium, is a rare form of corneal dystrophy first described in 1992 by Lisch et al. [1] In one study it was linked to chromosomal region Xp22.3, with as yet unknown candidate genes . [2] The main features of this disease are bilateral or unilateral gray band-shaped and feathery opacities. ... Ophthalmol. 114 (1): 35–44. doi : 10.1016/S0002-9394(14)77410-0 . PMID 1621784 . ^ Lisch W, Büttner A, Oeffner F, Böddeker I, Engel H, Lisch C, Ziegler A, Grzeschik K (October 2000). ... Ophthalmol. 130 (4): 461–8. doi : 10.1016/S0002-9394(00)00494-3 . PMID 11024418 . External links [ edit ] Classification D ICD - 10 : H18.5 OMIM : 300778 MeSH : C567588 C567588, C567588 External resources Orphanet : 98955 v t e Types of corneal dystrophy Epithelial and subepithelial Epithelial basement membrane dystrophy Gelatinous drop-like corneal dystrophy Lisch epithelial corneal dystrophy Meesmann corneal dystrophy Subepithelial mucinous corneal dystrophy Bowman's membrane Reis–Bucklers corneal dystrophy Thiel-Behnke dystrophy Stroma Congenital stromal corneal dystrophy Fleck corneal dystrophy Granular corneal dystrophy Lattice corneal dystrophy Macular corneal dystrophy Posterior amorphous corneal dystrophy Schnyder crystalline corneal dystrophy Descemet's membrane and endothelial Congenital hereditary endothelial dystrophy Fuchs' dystrophy Posterior polymorphous corneal dystrophy X-linked endothelial corneal dystrophy This article about an ophthalmic disease is a stub .
Clinical Features Lisch et al. (1992) described 5 family members and 3 unrelated patients (4 males, 4 females), aged 23 to 71 years, with bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns. Retroillumination showed that the opacities consisted of intraepithelial, densely crowded, clear microcysts. Light and electron microscopy disclosed diffuse vacuolization of the cytoplasm of epithelial cells in the affected area. Visual acuity was so reduced in 3 patients that abrasion of the corneal epithelium was performed. The corneal abnormalities recurred within months, with the same reduction in visual acuity as before.
Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision. Epidemiology Exact prevalence of this form of corneal dystrophy is not known but very few cases have been reported to date. LECD has been documented in one German family and in rare sporadic cases in Germany and the USA. Clinical description Lesions generally develop in childhood. Epithelial opacities are slowly progressive and painless blurred vision sometimes occurs after 60 years of age. Etiology The exact cause is unknown but appears to be genetic. The gene related to Lisch epithelial corneal dystrophy has been mapped to the short arm of the X chromosome (Xp22.3).
Needham Heights, MA, USA: Allyn & Bacon. ISBN 0-205-14164-1 . Das, J.P. (2002). A better look at intelligence. ... Cambridge: Cambridge University Press. pp. 445–476. ISBN 978-0-521-59648-0 . Lay summary (22 July 2013). ... Essentials of Psychological Testing . John Wiley & Sons. ISBN 978-0-471-41978-5 . Lay summary (10 October 2013). Urbina, Susana (2011). "Chapter 2: Tests of Intelligence". In Sternberg, Robert J. ; Kaufman, Scott Barry (eds.). ... Cambridge: Cambridge University Press. pp. 20–38. ISBN 978-0-521-73911-5 . Lay summary (9 February 2012).
Thus, 3 generations appeared to have been affected, with 1 instance of male-to-male transmission and an affected child from each of 2 unaffected mothers. The proposita had normal hearing and no evidence of cardiac abnormality. ... Extraocular anomalies were present in all 5 patients: 3 had maxillary hypoplasia, 2 had protuberant umbilical skin, 2 had ureteral stenosis, 1 had hypertelorism, and 1 had atrial septal defect. Cytogenetics In 2 sibs with Axenfeld-Rieger anomaly, hypertelorism, and cardiac anomalies, Baruch and Erickson (2001) found an unbalanced translocation der(6)t(6;8)(p25.1;q24.23), making them monosomic for 6pter-p25.1 and trisomic for 8q24.23-qter. Mapping Gould et al. (1997) performed linkage analysis in a 4-generation family segregating Axenfeld-Rieger anomaly, later found to segregate Axenfeld-Rieger syndrome (Mears et al., 1998), and obtained a maximum lod score of 3.1 (theta = 0) at marker D6S344 on chromosome 6p25. ... Extraocular features included hypertelorism in 5 patients, microdontia in 4, flat midface in 4, umbilical abnormalities in 2, cardiac defect in 1, and hearing loss in 1.
Nomenclature Alward (2000) reviewed the clinical features and molecular genetics of Axenfeld-Rieger syndrome and related disorders, noting that mutations in the 2 causative genes that had been identified, PITX2 and FOXC1, result in a wide variety of overlapping ocular phenotypes. ... He pointed out characteristic facies consisting of broad nasal root with telecanthus and maxillary hypoplasia with protruding lower lip. A mother and 2 of her 3 children had severe developmental anomalies of the iris, associated with maldevelopment of the ear and maxilla, umbilical hernia and anal stenosis. ... Toppare et al. (1995) suggested that if the cranial skin measurement is greater than 2 standard deviations beyond the mean, i.e., greater than 18.82 mm, Rieger syndrome should be considered. ... They also described a new family with a de novo balanced reciprocal translocation t(4;12)(q25;q15) segregating with full Rieger syndrome in 2 generations. Using fluorescence in situ hybridization and P1 artificial chromosomes (PACs) as probes, Flomen et al. (1997) localized both the deletion and the translocation breakpoints between genetic markers that are known to be strongly linked to Rieger syndrome. They mapped both the proximal deletion breakpoint and the translocation breakpoint within a region between 2 groups of PACs bearing the markers for D4S2945 (on the centromeric side) and D4S193 and D4S2940 (on the telomeric side).
Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies. Epidemiology The syndrome has an estimated prevalence of 1/200,000. Clinical description The clinical manifestations of ARS are highly variable. Features can be divided into ocular and non-ocular findings. Ocular abnormalities mainly affect the iris: hypoplasia, corectopia or hole formation in the iris mimicking polycoria; cornea: prominent and anteriorly displaced Schwalbe's line (posterior embryotoxon); and the chamber angle: iris strands bridging the iridocorneal angle to the trabecular meshwork. Eye dysgenesis in ARS may cause increased ocular pressure (IOP) leading to glaucoma.
Although the exact number of people diagnosed with CDPX1 is unknown, it was estimated that 1 in 500,000 have CDPX1 in varying severity. [2] This condition is not linked to a specific ethnicity. ... Fitzpatrick's Dermatology in General Medicine . (6th ed.). McGraw-Hill. ISBN 0-07-138076-0 . ^ Malou, E.; Gekas, J.; Troucelier-Lucas, V.; Mornet, E.; Razafimanantsoa, L.; Cuvelier, B.; Mathieu, M.; Thépot, F. (2001-02-01). ... Cytogenetic study and role of molecular biology]". Archives de Pédiatrie . 8 (2): 176–180. doi : 10.1016/S0929-693X(00)00181-0 . ... "Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form". Human Genetics . 82 (2): 167–170. doi : 10.1007/bf00284052 . ... American Journal of Medical Genetics Part A . 117A (2): 164–168. doi : 10.1002/ajmg.a.10950 .
Trends in Cognitive Sciences . 5 (1): 36–41. doi : 10.1016/S1364-6613(00)01571-0 . PMID 11164734 . S2CID 15092606 . ^ a b Jäncke, Lutz; Beeli, Gian; Eulig, Cornelia; Hänggi, Jürgen (March 2009). ... Sagiv, ed., Synesthesia: Perspectives from Cognitive Neuroscience , Oxford: Oxford University Press , ISBN 0-19-516623-X , pp. 11–33 ^ a b Simner, J.; Ward, J.; Lanz, M.; Jansari, A.; Noonan, K.; Glover, L.; Oakley, D.A. (2005). ... "Synesthetic colors determined by having colored refrigerator magnets in childhood". Cortex . 42 (2): 175–183. doi : 10.1016/S0010-9452(08)70342-3 . ... Handbook of Multisensory Processes. Cambridge, MA: MIT Press. ISBN 0-262-03321-6 ^ Steen, Carol. "Quote from Carol Steen Artist and founding member of the American Synesthesia Association in an interview at the Massachusetts Institute of Technology" . ... Ninth IEEE International Symposium on Wearable Computers . pp. 108–113. doi : 10.1109/ISWC.2005.11 . ISBN 0-7695-2419-2 . S2CID 8221450 . Archived from the original (PDF) on 2007-03-29.
Human African Trypanosomiasis (HAT), also called sleeping sickness, is a vector-borne parasitic disease caused by a protozoa of the Trypanosoma genus transmitted by the bite of a tsetse fly (genus Glossina ), that is found under its chronic form (average duration of 3 years) in western and central Africa (in case of the T. brucei gambiense sub-species), and under its acute form (lasting from few weeks to 6 months) in eastern and southern Africa (in case of the T. brucei rhodesiense sub-species). HAT comprises an initial hemo-lymphatic stage characterized by fever, weakness, musculoskeletal pain, anemia, and lymphadenopathy, along with dermatologic, cardiac and endocrine complications or hepatosplenomegaly, followed by a meningo-encephalitic stage characterized by neurologic involvement (sleep disturbances, psychiatric disorders, seizures) that progresses, in the absence of treatment, towards a fatal meningoencephalitis.
Police remained skeptical of the accounts throughout the entire incident. [2] : 235 No physical evidence was ever found, [3] : 175 and many reported gassings had simple explanations, such as spilled nail polish or odors emanating from animals or local factories. [2] : 237 Victims made quick recoveries from their symptoms and suffered no long-term effects. [3] : 175 Nevertheless, local newspapers ran alarmist articles about the reported attacks and treated the accounts as fact. [2] : 234 The attacks are widely considered to be a case of mass hysteria . [2] [3] However, others maintain that the Mad Gasser actually existed, or that the perceived attacks have another explanation, such as industrial pollution. ... Journal of Abnormal and Social Psychology . 40 (2): 175–186. doi : 10.1037/h0062339 . ^ a b c d e f "Aesthetic Prowler" on the loose Mrs. ... "The Mad Gasser of Mattoon". Fate . 25 (2). ^ Mio, Leslie (2001). "Location of "Gasser Attacks " " . ... Borderlands: The ultimate exploration of the unknown . Overlook. ISBN 0-87951-724-7 . ^ Janet, Pierre (1965). ... Detroit: Visible Ink Press. pp. 239 . ISBN 0-8103-9436-7 . ^ Do Go On. "146 - The Mad Gasser of Mattoon" .
Heredofamilial amyloidosis Specialty Dermatology Heredofamilial amyloidosis is an inherited condition that may be characterized by systemic or localized deposition of amyloid in body tissues. [1] : 522 [2] See also [ edit ] Amyloidosis List of cutaneous conditions References [ edit ] ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology . Saunders Elsevier. ISBN 978-0-7216-2921-6 . ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set . St. Louis: Mosby. ISBN 978-1-4160-2999-1 . v t e Amyloidosis Common amyloid forming proteins AA ATTR Aβ2M AL Aβ / APP AIAPP ACal APro AANF ACys ABri Systemic amyloidosis AL amyloidosis AA amyloidosis Aβ2M/Haemodialysis-associated AGel/Finnish type AA/Familial Mediterranean fever ATTR/Transthyretin-related hereditary Organ-limited amyloidosis Heart AANF/Isolated atrial Brain Familial amyloid neuropathy ACys+ABri/Cerebral amyloid angiopathy Aβ/Alzheimer's disease Kidney AApoA1+AFib+ALys/Familial renal Skin Primary cutaneous amyloidosis Amyloid purpura Endocrine Thyroid ACal/Medullary thyroid cancer Pituitary APro/Prolactinoma Pancreas AIAPP/Insulinoma AIAPP/Diabetes mellitus type 2 This cutaneous condition article is a stub .
Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis . Hereditary amyloidosis is characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins.
Secondary systemic amyloidosis Micrograph of liver amyloidosis, H&E stain Secondary systemic amyloidosis is a condition that involves the adrenal gland , liver , spleen , and kidney as a result of amyloid deposition due to a chronic disease such as Behçet's disease , ulcerative colitis , etc. [1] : 520 [2] See also [ edit ] Amyloidosis Primary systemic amyloidosis List of cutaneous conditions References [ edit ] ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology . Saunders Elsevier. ISBN 978-0-7216-2921-6 . ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set . St. Louis: Mosby. ISBN 978-1-4160-2999-1 . v t e Amyloidosis Common amyloid forming proteins AA ATTR Aβ2M AL Aβ / APP AIAPP ACal APro AANF ACys ABri Systemic amyloidosis AL amyloidosis AA amyloidosis Aβ2M/Haemodialysis-associated AGel/Finnish type AA/Familial Mediterranean fever ATTR/Transthyretin-related hereditary Organ-limited amyloidosis Heart AANF/Isolated atrial Brain Familial amyloid neuropathy ACys+ABri/Cerebral amyloid angiopathy Aβ/Alzheimer's disease Kidney AApoA1+AFib+ALys/Familial renal Skin Primary cutaneous amyloidosis Amyloid purpura Endocrine Thyroid ACal/Medullary thyroid cancer Pituitary APro/Prolactinoma Pancreas AIAPP/Insulinoma AIAPP/Diabetes mellitus type 2 This cutaneous condition article is a stub .
