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131:") is a rare autosomal dominant disorder that usually presents at birth or during the first year of life. To date, it is thought to be caused by mutations in genes encoding for connexin channels proteins in the epidermis, leading to the misregulation of homeostasis in keratinocytes.
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with accentuated skin markings, while a second type is localized, with involvement that is limited in extent and characterized by sharply demarcated, hyperkeratotic plaques.
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Richard G, Smith LE, Bailey RA, et al. (December 1998). "Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis".
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Mendes da Costa, S. Erythro- et keratodermia variabilis in a mother and a daughter. Acta Derm. Venerol. 6: 255-261, 1925.
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Erythrokeratodermia variabilis is inherited in an autosomal dominant manner of inheritance
352:"Mutation in the Gene for Connexin 30.3 in a Family with Erythrokeratodermia Variabilis"
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179:"OMIM Entry - # 133200 - ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1; EKVP1"
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31:. "Mendes da Costa syndrome" redirects here. It is not to be confused with
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Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
27:"Mendes da Costa" redirects here. For people with this name, see
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One type is characterized by generalized, persistent, brown
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Macari F, Landau M, Cousin P, et al. (November 2000).
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Progressive symmetric erythrokeratodermia, Gottron type
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James, William; Berger, Timothy; Elston, Dirk (2005).
117:
keratosis palmoplantaris transgrediens et progrediens
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1414:Progressive symmetric erythrokeratodermia
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1428:Clouston's hidrotic ectodermal dysplasia
129:progressive symmetric erythrokeratoderma
125:Mendes da Costa type erythrokeratodermia
18:Mendes da Costa type erythrokeratodermia
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109:erythrokeratodermia figurata variabilis
1375:Keratitis–ichthyosis–deafness syndrome
1194:Congenital absence of the vas deferens
7:
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255:. (6th ed.). Page 497. McGraw-Hill.
1503:. You can help Knowledge (XXG) by
1045:Jervell and Lange-Nielsen syndrome
984:Jervell and Lange-Nielsen syndrome
113:keratosis extremitatum progrediens
25:
1487:
1455:Nephrogenic diabetes insipidus 2
843:Congenital insensitivity to pain
838:Paroxysmal extreme pain disorder
766:Hypokalemic periodic paralysis 2
617:Hypokalemic periodic paralysis 1
149:. It was characterized in 1925.
1347:Hypoplastic left heart syndrome
1158:Thyrotoxic periodic paralysis 2
771:Hyperkalemic periodic paralysis
622:Thyrotoxic periodic paralysis 1
1409:Erythrokeratodermia variabilis
1361:Charcot–Marie–Tooth disease X1
1065:Familial atrial fibrillation 3
970:Spinocerebellar ataxia type-13
956:Familial atrial fibrillation 7
723:Familial hemiplegic migraine 3
550:Familial hemiplegic migraine 1
105:Erythrokeratodermia variabilis
44:Erythrokeratodermia variabilis
1:
1255:Vitelliform macular dystrophy
781:Potassium-aggravated myotonia
560:Spinocerebellar ataxia type-6
368:10.1016/S0002-9297(07)62957-7
276:. Page 77-96. ISSN 0906-6705.
159:List of cutaneous conditions
1342:Hallermann–Streiff syndrome
1337:Oculodentodigital dysplasia
902:Pseudohypoaldosteronism 1AR
272:Richard, Gabriela. (2000).
1581:
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251:Freedberg, et al. (2003).
209:. (6th ed.). McGraw-Hill.
205:Freedberg, et al. (2003).
141:It can be associated with
26:
1555:Palmoplantar keratodermas
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229:Dermatology: 2-Volume Set
65:
56:
518:Diseases of ion channels
289:. (10th ed.). Saunders.
121:Mendes da Costa syndrome
1120:Andersen–Tawil syndrome
1565:Genetic disorder stubs
1385:Bart–Pumphrey syndrome
776:Paramyotonia congenita
661:Malignant hyperthermia
1310:Mucolipidosis type IV
855:Constitutively active
1241:Osteopetrosis A2, B4
1050:Romano–Ward syndrome
666:Central core disease
231:. St. Louis: Mosby.
795:Long QT syndrome 10
33:Da Costa's syndrome
1390:Vohwinkel syndrome
1380:Ichthyosis hystrix
1269:Bartter syndrome 3
1213:Myotonia congenita
1125:Long QT syndrome 7
1106:Bartter syndrome 2
1060:Long QT syndrome 1
1017:Brugada syndrome 5
1003:Long QT syndrome 6
989:Long QT syndrome 5
833:Febrile seizure 3B
814:Long QT syndrome 3
809:Brugada syndrome 1
747:Brugada syndrome 6
733:Febrile seizure 3A
636:Brugada syndrome 4
584:Long QT syndrome 8
579:Brugada syndrome 3
461:External resources
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1130:Short QT syndrome
1055:Short QT syndrome
1031:Short QT syndrome
942:Episodic ataxia 1
918:Potassium channel
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876:Liddle's syndrome
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598:Ocular albinism 2
555:Episodic ataxia 2
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356:Am. J. Hum. Genet
238:978-1-4160-2999-1
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38:Medical condition
16:(Redirected from
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828:Erythromelalgia
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1560:Rare diseases
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927:Voltage-gated
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274:Exp Dermatol
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186:. Retrieved
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1281:TRP channel
188:3 September
95:Usual onset
77:Dermatology
49:Other names
1544:Categories
1468:See also:
309:Nat. Genet
165:References
72:Specialty
1322:Connexin
470:Orphanet
386:11017804
183:omim.org
153:See also
127:", and "
752:GEFS+ 1
728:GEFS+ 2
611:CACNA1S
592:CACNA1F
568:CACNA1C
544:CACNA1A
451:D056266
430:: Q82.8
377:1288569
329:9843209
98:Infancy
1304:TRPML1
1263:CLCNKB
1152:KCNJ18
1138:KCNJ11
896:SCNN1G
890:SCNN1B
884:SCNN1A
870:SCNN1G
864:SCNN1B
630:CACNB2
603:CSNB2A
440:133200
384:
374:
337:841727
335:
327:
293:
259:
235:
213:
83:
1495:This
1440:Porin
1296:FSGS2
1290:TRPC6
1249:BEST1
1235:CLCN7
1221:CLCN5
1202:CLCN1
1144:TNDM3
1114:KCNJ2
1100:KCNJ1
1079:BFNS1
1073:KCNQ2
1039:KCNQ1
1025:KCNH2
1011:KCNE3
997:KCNE2
978:KCNE1
964:KCNC3
950:KCNA5
936:KCNA1
822:SCN9A
803:SCN5A
789:SCN4B
760:SCN4A
741:SCN1B
717:SCN1A
685:ARVD2
680:CPVT1
333:S2CID
1501:stub
1449:AQP2
1422:GJB6
1403:GJB4
1399:GJB3
1369:GJB2
1355:GJB1
1331:GJA1
1183:CFTR
674:RYR2
655:RYR1
446:MeSH
435:OMIM
382:PMID
325:PMID
291:ISBN
257:ISBN
233:ISBN
211:ISBN
190:2017
147:GJB4
145:and
143:GJB3
123:", "
119:", "
115:", "
111:", "
475:316
423:ICD
372:PMC
364:doi
317:doi
1546::
473::
449::
438::
427:10
380:.
370:.
360:67
358:.
354:.
331:.
323:.
313:20
311:.
198:^
181:.
79:,
1532:e
1525:t
1518:v
1507:.
1401:/
1392:)
893:/
887:/
867:/
510:e
503:t
496:v
425:-
415:D
388:.
366::
339:.
319::
297:.
263:.
241:.
217:.
192:.
35:.
20:)
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