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A number sign (#) is used with this entry because pachyonychia congenita-4 (PC4) is caused by heterozygous mutation in the KRT6B gene (148042) on chromosome 12q13. Description Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). For a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita.
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
A number sign (#) is used with this entry because pachyonychia congenita-3 (PC3) is caused by heterozygous mutation in the keratin-6a gene (KRT6A; 148041) on chromosome 12q13. Description Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). For a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita.
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. Description Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). For a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita.
A number sign (#) is used with this entry because pachyonychia congenita-1 (PC1) is caused by heterozygous mutation in the keratin-16 gene (KRT16; 148067) on chromosome 17q21. Description Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). 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.
A study by Iwatsuki et al. detected Epstein-Barr virus (EBV) positive T-cells in the perivascular infiltration on biopsy in 28/29 patients tested. Antibody titers to EBV were measured in 14 of these patients and only five had abnormal antibody patterns consistent with chronic active EBV infection. [6] Treatment [ edit ] Antiviral treatment has been tried with some success in a small number of patients. [7] See also [ edit ] List of cutaneous conditions Epstein-Barr virus References [ edit ] ^ Bazin, E (1862). ... Feb, 42(2 Pt 1) (2): 208–13. doi : 10.1016/s0190-9622(00)90127-0 . PMID 10642674 . ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology . Saunders Elsevier. ISBN 0-7216-2921-0 . ^ Rezk SA, Zhao X, Weiss LM (September 2018).
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.
Hagerstown, MD: Lippincott Williams & Wilkins. p. 1150. ISBN 0-7817-2655-7 . Retrieved 2008-06-16 . ^ a b c d e f Scalea TM (2005). ... Boca Raton: CRC. pp. 26–32. ISBN 978-0-8493-8138-6 . Retrieved 2008-07-06 . ^ a b Porth, Carol (2007). ... Hagerstown, MD: Lippincott Williams & Wilkins. p. 838. ISBN 978-0-7817-7087-3 . Retrieved 2008-07-03 . ^ Pitkänen A, McIntosh TK (2006). ... 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). ... Neuroscience . 101 (2): 289–95. doi : 10.1016/S0306-4522(00)00380-8 . PMID 11074152 . S2CID 20457228 . ^ Sauaia A, Moore FA, Moore EE, et al.
Foot deformities were first observed between ages two and ten years, were moderately or severely disabling, and required surgery in 6% (1/18) to 11% (3/28) of cases (Table 2). Table 2. Occurrence of Manifestations of CMT4C by Study View in own window Study Finding Study (Total Patients) Azzedine et al [2006] (28) Colomer et al [2006] (14) Senderek et al [2003] (18) Houlden et al [2009] (6) Baets et al [2011] (9) Laššuthová et al [2011] (16) Yger et al [2012] (14) Fischer et al [2012] (6) Cumulative Data Age at onset 1 st symptoms 2-10 4-39 Infancy-12 1-16 <1 1-12 1-12 ND 1-16 Neuropathy 2-10 Infancy-12 1-16 <1 2-50 2-50 2-25 1-50 Age at (last) exam (yrs) 5-45 8-45 11-56 8-42 ND ND 8-59 5-59 Foot deformity Pes cavus 20/28 14/14 1 8/18 Yes ND 13/15 12/14 ND Pes planus 7/28 4/18 Yes ND no no ND Pes valgus 1/28 ND ND ND no 3/14 ND Other No Hammer toes 8/18 Small feet ND Hammer toes no ND Total 28/28 14/14 13/18 2 6/6 1 7/9 14/15 14/14 ND 96/104 (92%) Age at onset (yrs) 2-10 No data 2-12 ND ND ND 1,12 3 ND 1-12 Surgery 3/28 None 1/13 No ND 9/14 4/14 ND 17/69 (24%) Spine deformity Total 27/28 5/14 4 11/18 4 6/6 6/9 10/12 12/12 5/6 82/105 (78%) Age at onset (yrs) 2-10 4 4-12 5 ND 2, 6, 7, 12 6 ND 7-15 ND 2-15 Surgery 7 7 + 6 8 = 13/27 1/14 1/11 3/6 3/6 ND 1/12 ND 22/76 (29%) ND = not done or not documented 1. ... Additional Clinical Findings in CMT4C by Study View in own window Clinical Finding Study (Total Patients) Azzedine et al [2006] (28) Colomer et al [2006] (14) Senderek et al [2003] (18) Houlden et al [2009] (6) Baets et al [2011] (9) Laššuthová et al [2011] (16) Yger et al [2012] (14) Cumulative Data Hypoacusis 5/280/14 2/18 0/6 0/9 0/15 8/13 15/103 Deafness 0/28 5/14 1/18 2/6 1/9 3/15 0/13 12/103 Nystagmus 0/280/14 2/18 0/6 2/9 0/15 0/13 4/103 Pupillary light reflexes 0/28 3/14 0/18 1/6 0/9 0/15 14/13 4/20 Other pupillary disturbances -- -- -- Asymmetric size 1/6 -- -- -- 1/6 Lingual fasciculation -- 3/14 -- -- -- -- -- 3/14 Tongue atrophy and/or weakness -- -- -- 1/6 -- -- 2/13 3/19 Facial paresis 1/28 -- -- 1/6 1/9 -- 4/13 7/56 Facial weakness -- -- -- 1/6 -- -- -- 1/6 Head tremor -- 2/14 -- -- -- -- -- 2/14 Vocal cord involvement -- -- -- -- -- -- 1/13 1/13 Total patients w/cranial nerve involvement 5/28 9/14 5/14 1 4/6 -- -- 10/13 33/73 Respiratory insufficiency or hypoventilation 7/28 2 -- 2/18 -- 1/9 -- -- 10/55 Sensory ataxia 1/28 2/14 -- -- -- -- -- >3/42 3 Diabetes mellitus -- -- 1/18 -- -- -- -- 1/18 Romberg sign -- 2/14 -- -- -- -- -- 2/14 1. 14 of 18 patients were examined for cranial nerve involvement. 2. ... Genotype-Phenotype Correlations Significant intrafamilial variability in the disease course makes it difficult to identify genotype-phenotype correlations [Kessali et al 1997, Gabreëls-Festen et al 1999, Senderek et al 2003, Azzedine et al 2005a, Azzedine et al 2005b, Azzedine et al 2006]. In 28 individuals with CMT4C, Azzedine et al [2006] found no correlation between the nature and the position of the pathogenic variant, disease duration, and the stage of disability.
A number sign (#) is used with this entry because Charcot-Marie-Tooth (CMT) disease type 4C is caused by homozygous or compound heterozygous mutation in the SH3TC2 gene (608206). Mild mononeuropathy of the median nerve (MNMN; 613353) is a less severe allelic disorder caused by heterozygous mutation in the SH3TC2 gene. For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating Charcot-Marie-Tooth disease, see CMT4A (214400). Clinical Features Kessali et al. (1997) reported 2 large consanguineous Algerian families with autosomal recessive demyelinating CMT. Mean age at onset was 5.2 years (range 2 to 10 years). All patients had foot deformities and scoliosis, often requiring surgery.
Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported.
Academia Española de Dermatología y Veneralogía. Archived from the original on 28 April 2015 . Retrieved 28 June 2014 . ^ Baran, Robert; de Berker, David A. ... Wiley. ISBN 978-0470657355 . Retrieved 28 June 2014 . ^ http://radiopaedia.org/articles/pinch-fo ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine . (6th ed.). McGraw-Hill. ISBN 0-07-138076-0 . This condition of the skin appendages article is a stub .
Hajdu–Cheney syndrome Other names Acrodentoosteodysplasia, Arthrodentoosteodysplasia Hajdu-Cheney Specialty Rheumatology , medical genetics Hajdu–Cheney syndrome , also called acroosteolysis with osteoporosis and changes in skull and mandible , arthrodentoosteodysplasia and Cheney syndrome , [1] is an extremely rare autosomal dominant congenital disorder [2] [3] of the connective tissue characterized by severe and excessive bone resorption leading to osteoporosis and a wide range of other possible symptoms. Mutations in the NOTCH2 gene, identified in 2011, cause HCS. HCS is so rare that only about 50 cases have been reported worldwide since the discovery of the syndrome in 1948 [4] Contents 1 Signs and symptoms 2 Genetics 3 Pathogenesis 4 Diagnosis 4.1 Types 5 Treatment 6 Eponym 7 References 8 Further reading 9 External links Signs and symptoms [ edit ] Hajdu–Cheney syndrome causes many issues with an individual’s connective tissues. Some general characteristics of an individual with Hajdu–Cheney syndrome include bone flexibility and deformities, short stature, delayed acquisition of speech and motor skills, dolichocephalic skull, Wormian bone , small maxilla, hypoplastic frontal sinuses, basilar impression, joint laxity, bulbous finger tips and severe osteoporosis. Wormian bone occurs when extra bones appear between cranial sutures. Fetuses with Hajdu–Cheney syndrome often will not be seen to unclench their hands on obstetrical ultrasound. They may also have low-set ears and their eyes may be farther apart than on a usual child, called hypertelorism .
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.
Oxford University Press . ISBN 978-0-19-852783-1 . ^ Glenn, Harrold. "The Ultimate Self-Hypnosis Cure for the Phobia of Hospitals (Nosocomephobia)" . ... Archived from the original on 1 October 2015 . Retrieved 28 November 2009 . ^ "Doctor Tells Nixon's Fear of Hospital" . ... Toledo Blade. September 15, 1974 . Retrieved 28 November 2009 . [ dead link ] ^ νοσοκομεῖον , Henry George Liddell, Robert Scott, A Greek-English Lexicon , on Perseus ^ φόβος , Henry George Liddell, Robert Scott, A Greek-English Lexicon , on Perseus ^ Thomas, Charles (2001). ... University of Michigan : Charles C. Thomas. ISBN 0-398-07132-2 . This abnormal psychology –related article is a stub .
A diet-related mouse model of colon cancer was devised. [28] [29] In this model, wild type mice are fed a standard diet plus DOC to give a level of DOC in mouse colon comparable to that in the colons of humans on a high fat diet. [28] After 8–10 months, 45% to 56% of the mice developed colonic adenocarcinomas , and no mice had cancers of the small intestine. ... PMID 26295972 . ^ Oh, BY; Hong, HK; Lee, WY; Cho, YB (28 February 2017). "Animal models of colorectal cancer with liver metastasis". ... Cell . 66 (3): 589–600. doi : 10.1016/0092-8674(81)90021-0 . PMID 1651174 . ^ Moser AR, Pitot HC, Dove WF (1990). ... Cell . 92 (5): 645–56. doi : 10.1016/S0092-8674(00)81132-0 . PMID 9506519 . ^ Kolodner R (1996). ... Cell . 91 (4): 467–77. doi : 10.1016/S0092-8674(00)80433-X . PMID 9390556 . ^ Reitmair AH, Redston M, Cai JC, et al. (1996).
Houghton Mifflin Company . Retrieved 28 February 2017 . ^ "Medical Definition of Odynophagia" . MedicineNet . 13 May 2016 . Retrieved 28 February 2017 . ^ a b Schiff, Bradley A. ... Merck Sharp & Dohme Corp . Retrieved 28 February 2017 . ^ Allan B. Wolfson, ed. (2005). Harwood-Nuss' Clinical Practice of Emergency Medicine (4th ed.). pp. 307–8. ISBN 0-7817-5125-X . ^ Scully, Crispian (2008). ... Edinburgh: Churchill Livingstone. pp. 131–139. ISBN 978-0-443-06818-8 . ^ Mayo Clinic Staff (8 August 2016).
. ^ "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 .
Lippincott Williams & Wilkins. pp. 2199–. ISBN 978-0-7817-5777-5 . ^ Andres Kanner; Steven C. Schachter (28 July 2010). Psychiatric Controversies in Epilepsy . Elsevier. pp. 54–. ISBN 978-0-08-055959-9 . ^ Michael R. Trimble; Bettina Schmitz (9 June 2011). ... Oxford University Press. pp. 147–. ISBN 978-0-19-970699-0 .
Characteristics [ edit ] Botellón usually begins around 11:00 p.m. and ends around 3:00 a.m. when many people move to a bar or club. ... Since botellón is usually a nighttime activity, Spain passed a law that prohibits stores to sell alcohol to the public after 10:00 p.m, hoping to persuade people to attend clubs or bars where alcohol must remain on site. [ citation needed ] However, the measure is a controversial one because people can still buy alcohol before the selling limit hour and consume it in public. ... Alicante: El Mundo. 9 March 2010. ^ Reyes Rincón (28 November 2006). "Nace el 'botellódromo':El Ayuntamiento de Granada construye un espacio a las afueras de la ciudad para que 20.000 jóvenes puedan beber sin molestia" . ... CS1 maint: archived copy as title ( link ) ^ "Media España se cita en la Red para celebrar un macrobotellón el 17 de marzo" . 2006-03-07. ^ http://www.20minutos.es/noticia/97295/0/macrobotellones/ciudades/espana/ | Literally translated from Spanish ^ "El Ayuntamiento "no consentirá" el macrobotellón que se prepara en Moncloa" . 2006-03-07.
See also [ edit ] List of cutaneous conditions References [ edit ] ^ "Hereditary leiomyomatosis and renal cell cancer | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . rarediseases.info.nih.gov . Retrieved 28 April 2019 . ^ a b Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine . (6th ed.). Page 1033. McGraw-Hill. ISBN 0-07-138076-0 . External links [ edit ] Classification D ICD - 10 : C64 OMIM : 150800 External resources Orphanet : 523 This Dermal and subcutaneous growths article is a stub .
Jaypee Brothers Publishers. 2007. pp. 347–. ISBN 978-81-8061-996-0 . ^ Leonard J. Deftos (1 January 1998). ... Rowman & Littlefield Publishers. pp. 73–. ISBN 978-0-7591-2332-8 . ^ Vasan; R.S. (1 January 1998). ... Biochemistry and Function of Sterols . CRC Press. pp. 26–27. ISBN 978-0-8493-7674-0 . ^ Michael Crocetti; Michael A. ... Lippincott Williams & Wilkins. pp. 564–. ISBN 978-0-7817-3770-8 . ^ W. Steven Pray (2006). ... Elsevier Health Sciences. pp. 1281–. ISBN 978-0-323-08678-3 . ^ Guy I. Benrubi (28 March 2012).
Lucio and Simplicio Godina Born March 8, 1908 Samar , Philippines Died Lucio: 24 November 1936 (1936-11-24) (aged 28) Simplicio: 8 December 1936 (1936-12-08) (aged 28) New York City , U.S. ... Baltimore: Johns Hopkins University Press. ISBN 0-8018-7070-4 .
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) .
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).
