68:
40:
323:, or natal teeth. Since PC is inherited in an autosomal dominant fashion in 70% of individuals, it should especially be suspected in patients with symptoms who also have a parent with similar symptoms. Histopathological analysis of skin or nail tissue is not helpful in diagnosis of PC, but can be used to rule out some related diseases. If there is a clinical suspicion for PC,
352:
Hyperkeratosis can be treated with keratolytic emollients while cysts may be treated with incision and drainage. Patients with hyperhidrosis may need to wear moisture-wicking socks and ventilated shoes. Any secondary infection may need to be treated with antibiotics, though infection can often be prevented with appropriate grooming and vinegar or bleach baths.
304:
Pachyonychia congenita type II (also known as "Jackson–Lawler pachyonychia congenita" and "Jackson–Sertoli syndrome") is an autosomal dominant keratoderma presenting with a limited focal plantar keratoderma that may be very minor, with nails changes that may be evident at birth, but more commonly
351:
Palmoplantar keratoderma can be treated with consistent grooming, including trimming back the callus, applying emollients, and draining blisters. Plantar pain is often treated by reducing pressure on the feet by minimizing walking, wearing cushioned footwear, or using wheelchairs or crutches.
360:
Pachyonychia congenita is a rare disorder with an unknown prevalence. As of 2018, the
International PC Research Registry has identified approximately 774 individuals with the disease, but prevalence is estimated to be 5,000–10,000 worldwide. The disease affects both males and females.
1065:
916:
892:
539:
McLean W, Rugg E, Lunny D, Morley S, Lane E, Swensson O, Dopping-Hepenstal P, Griffiths W, Eady R, Higgins C, Navsaria H, Leigh I, Strachan T, Kunkeler L, Munro C (1995). "Keratin 16 and keratin 17 mutations cause pachyonychia congenita".
339:
Pachyonychia
Congenita Project is a non-profit dedicated to finding a cure for PC. The organization houses a genetic registry (the International PC Research Registry) and offers free genetic testing for individuals suspected to have PC.
314:
In order to clinically diagnose pachyonychia congenita, the clinical triad of toenail thickening, plantar keratoderma, and plantar pain must be present. This triad is present in 97% of individuals with PC by the age of 10 years old.
1058:
1051:
438:
Smith, Frances JD; Hansen, C. David; Hull, Peter R.; Kaspar, Roger L.; McLean, WH Irwin; O’Toole, Edel; Sprecher, Eli (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.),
471:
Eliason, Mark J.; Leachman, Sancy A.; Feng, Bing-jian; Schwartz, Mary E.; Hansen, C. David (October 2012). "A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita".
200:, and only one copy of the gene is required to inherit the disorder from a parent who has the disorder. On average, 50% of the offspring of an affected person will inherit the disorder, regardless of sex.
318:
Pachyonychia congenita can be suspected in patients who do not have the complete clinical triad but who exhibit other symptoms such as cysts, oral leukokeratosis, follicular hyperkeratosis, palmoplantar
1760:
348:
There is currently no cure for pachyonychia congenita. Treatment focuses on symptom relief for any plantar pain, hyperkeratoses, cysts, leukokeratosis, hyperhidrosis, or secondary infections.
87:
skin disorders that are caused by a mutation in one of five different keratin genes. Pachyonychia congenita is often associated with thickened toenails, plantar keratoderma, and plantar pain.
626:
Smith FJ, Jonkman MF, Van Goor H, Coleman CM, Covello SP, Uitto J, McLean WH (1998). "A Mutation in Human
Keratin K6b Produces a Phenocopy of the K17 Disorder Pachyonychia Congenita Type 2".
389:
biologics. Pachyonychia
Congenita Project houses a list of clinical trials and assists with clinical trial recruitment from patients enrolled in their International PC Research Registry.
301:
that principally involves the plantar surfaces, but also with nails changes that may be evident at birth, but more commonly develop within the first few months of life.
1331:
1220:
223:
Pachyonychia congenita consists of five sub-types, each named after its corresponding genetic mutation and each associated with distinguishing clinical features:
1667:
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1481:
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290:
Before the genetic basis of
Pachyonychia congenita was identified and described, the disease was historically divided into the following sub-types:
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398:
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1326:
583:
Bowden PE, Haley JL, Kansky A, Rothnagel JA, Jones DO, Turner RJ (1995). "Mutation of a type II keratin gene (K6a) in pachyonychia congenita".
1750:
1607:
1451:
728:
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798:
Goldberg, I.; Fruchter, D.; Meilick, A.; Schwartz, M.E.; Sprecher, E. (2013-01-30). "Best treatment practices for pachyonychia congenita".
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703:
258:
and is the least common sub-type. It is not often associated with the additional features of oral leukokeratosis, cysts, follicular
203:
Occasionally, however, a solitary case can emerge in a family with no prior history of the disorder due to the occurrence of a new
335:
The diagnosis of PC can be confirmed by the identification of a mutation in one of the five genes responsible for the condition:
95:
Pachyonychia congenita is characterized by a clinical triad present in 97% of people with PC by the time they turn 10 years old:
1672:
1187:
1206:
196:
Pachyonychia congenita follows an autosomal dominant pattern of inheritance, which means the defective gene is located on an
188:. Three keratin genes were identified to have a role PC in 1995 with a fourth keratin gene's role in PC identified in 1998.
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1151:
1034:
108:
Plantar pain that may require some patients to use wheelchairs, canes, crutches, and pain medications due to its severity
403:
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1007:
374:
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84:
286:
and more commonly associated with the presence of cysts, follicular kyperkeratosis, and natal teeth.
67:
1507:
920:
369:
There are several ongoing investigational therapies for pachyonychia congenita, including topical
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1128:
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Pachyonychia congenita type I (also known as "Jadassohn–Lewandowsky syndrome") is an
835:
612:
1120:
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1038:
996:
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771:
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17:
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and more commonly associated with an increased age of onset (>14 years).
667:"Pachyonychia Congenita - NORD (National Organization for Rare Disorders)"
647:
604:
561:
515:
1230:
1002:
204:
197:
884:
1659:
1234:
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553:
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811:
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207:(often referred to as a sporadic, spontaneous or de novo mutation).
1704:
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719:
Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
1467:
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1255:
1027:
909:
905:
1202:
1047:
800:
Journal of the
European Academy of Dermatology and Venereology
47:
Pachyonychia congenita has an autosomal dominant pattern of
276:
and is more commonly associated with severe plantar pain.
1022:
746:
James, William; Berger, Timothy; Elston, Dirk (2005).
874:
1681:
1658:
1638:
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878:
748:
55:
32:
1761:Papulosquamous hyperkeratotic cutaneous conditions
690:
688:
686:
671:NORD (National Organization for Rare Disorders)
80:(often abbreviated as "PC") is a rare group of
742:
740:
474:Journal of the American Academy of Dermatology
112:Other signs and symptoms found in PC include:
1214:
1074:Congenital malformations and deformations of
1059:
696:Fitzpatrick's Dermatology in General Medicine
8:
772:"International PC Research Registry (IPCRR)"
305:develop within the first few months of life.
1492:Transient bullous dermolysis of the newborn
1482:Recessive dystrophic epidermolysis bullosa
1251:
1221:
1207:
1199:
1066:
1052:
1044:
875:
714:
712:
66:
38:
29:
147:Excessive sweating of the palms and soles
1177:Giant axonal neuropathy with curly hair
415:
399:Unilateral palmoplantar verrucous nevus
1327:Spondyloepiphyseal dysplasia congenita
279:PC-K17 is caused by a mutation in the
269:PC-K16 is caused by a mutation in the
251:PC-K6c is caused by a mutation in the
241:PC-K6b is caused by a mutation in the
227:PC-K6a is caused by a mutation in the
1608:Ullrich congenital muscular dystrophy
1452:Ullrich congenital muscular dystrophy
793:
791:
766:
764:
447:, University of Washington, Seattle,
7:
1689:Congenital stromal corneal dystrophy
661:
659:
657:
433:
431:
429:
427:
425:
423:
421:
419:
234:and more often associated with oral
1573:Otospondylomegaepiphyseal dysplasia
1552:Schmid metaphyseal chondrodysplasia
337:KRT6A, KRT6B, KRT6C, KRT16, KRT17.
25:
1756:Conditions of the skin appendages
1568:Weissenbacher–Zweymüller syndrome
1477:Epidermolysis bullosa dystrophica
1332:Spondyloepimetaphyseal dysplasia,
723:. St. Louis: Mosby. p. 740.
516:"What Is Pachyonychia Congenita?"
164:Fingernail and toenail infections
1668:Junctional epidermolysis bullosa
1031:Pachyonychia congenita recessive
1673:Laryngoonychocutaneous syndrome
850:"Clinical Trials & Studies"
1:
1530:Multiple epiphyseal dysplasia
1152:Sabinas brittle hair syndrome
220:ILDS: Q84.520 ICD-10: Q84.5
1751:Autosomal dominant disorders
404:List of cutaneous conditions
238:and poor feeding in infants.
327:can confirm the diagnosis.
173:The condition is caused by
1777:
1188:Zimmermann–Laband syndrome
698:. (6th ed.). McGraw-Hill.
694:Freedberg, et al. (2003).
486:10.1016/j.jaad.2011.12.009
1721:
721:Dermatology: 2-Volume Set
135:Follicular hyperkeratosis
46:
37:
1167:Uncombable hair syndrome
750:. (10th ed.). Saunders.
628:Human Molecular Genetics
441:"Pachyonychia Congenita"
150:Excess earwax production
1265:Osteogenesis imperfecta
140:Natal or prenatal teeth
130:steatocystoma multiplex
1580:Type XI collagenopathy
1416:Ehlers–Danlos syndrome
1367:Ehlers–Danlos syndrome
1347:Type II collagenopathy
1276:Ehlers–Danlos syndrome
1102:Pachyonychia congenita
78:Pachyonychia congenita
33:Pachyonychia congenita
1699:Urbach–Wiethe disease
1536:(types 2, 3, & 6)
1378:Sack–Barabas syndrome
1282:(types 1, 2, & 7)
940:167210 167200, 167210
116:Thickened fingernails
854:www.pachyonychia.org
776:www.pachyonychia.org
640:10.1093/hmg/7.7.1143
520:www.pachyonychia.org
1630:Bullous pemphigoid
1301:Hypochondrogenesis
1172:Björnstad syndrome
983:External resources
597:10.1038/ng0795-363
554:10.1038/ng0395-273
310:Clinical Diagnosis
296:autosomal dominant
119:Palmar keratoderma
99:Thickened toenails
91:Signs and symptoms
1733:
1732:
1654:
1653:
1646:Knobloch syndrome
1422:(types 1 & 2)
1373:(types 3 & 4)
1322:Marshall syndrome
1317:Stickler syndrome
1196:
1195:
1017:
1016:
812:10.1111/jdv.12098
730:978-1-4160-2999-1
331:Genetic Diagnosis
175:genetic mutations
128:Cysts, including
75:
74:
27:Medical condition
16:(Redirected from
1768:
1726:fibrous proteins
1711:DFNA8/12, DFNB21
1615:
1612:
1604:
1601:
1597:Bethlem myopathy
1577:
1537:
1534:
1515:
1512:
1508:Fuchs' dystrophy
1459:
1456:
1448:
1445:
1441:Bethlem myopathy
1423:
1420:
1374:
1371:
1343:Kniest dysplasia
1338:
1337:(Strudwick type)
1335:
1312:
1309:
1283:
1280:
1272:
1269:
1252:
1247:Collagen disease
1223:
1216:
1209:
1200:
1131:/abnormalities:
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1061:
1054:
1045:
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864:
863:
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536:
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468:
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160:Angular chelitis
71:
70:
62:Medical genetics
42:
30:
21:
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1510:
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1401:
1397:Alport syndrome
1382:
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1336:
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1310:
1307:
1306:Achondrogenesis
1286:
1281:
1278:
1270:
1267:
1241:
1227:
1197:
1192:
1134:keratin disease
1115:
1078:
1076:skin appendages
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978:
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585:Nature Genetics
582:
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542:Nature Genetics
538:
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522:
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470:
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395:
379:botulinum toxin
367:
358:
346:
333:
325:genetic testing
312:
218:
213:
194:
177:in one of five
171:
93:
65:
28:
23:
22:
15:
12:
11:
5:
1774:
1772:
1764:
1763:
1758:
1753:
1748:
1746:Genodermatoses
1738:
1737:
1731:
1730:
1722:
1719:
1718:
1716:
1715:
1714:
1713:
1701:
1696:
1694:Raine syndrome
1691:
1685:
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1678:
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1670:
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1363:
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1324:
1319:
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1303:
1297:
1295:
1288:
1287:
1285:
1284:
1273:
1261:
1259:
1249:
1243:
1242:
1239:scleroproteins
1228:
1226:
1225:
1218:
1211:
1203:
1194:
1193:
1191:
1190:
1184:hypertrichosis
1180:
1179:
1174:
1169:
1164:
1159:
1154:
1149:
1147:IBIDS syndrome
1144:
1143:
1142:
1125:
1123:
1117:
1116:
1114:
1113:
1108:
1099:
1094:
1088:
1086:
1080:
1079:
1073:
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1063:
1056:
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1024:
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883:
882:
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879:Classification
872:
871:External links
869:
866:
865:
841:
806:(3): 279–285.
787:
760:
736:
729:
708:
682:
653:
618:
575:
531:
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480:(4): 680–686.
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260:hyperkeratosis
249:
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236:leukokeratosis
217:
216:Classification
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170:
167:
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124:leukokeratosis
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52:
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43:
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1528:
1527:
1525:
1521:
1509:
1506:
1505:
1503:
1499:
1493:
1490:
1488:
1487:Bart syndrome
1485:
1483:
1480:
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1475:
1474:
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1450:
1442:
1439:
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1157:Pili annulati
1155:
1153:
1150:
1148:
1145:
1141:
1138:
1137:
1136:
1135:
1130:
1129:hypotrichosis
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1118:
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1098:
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1093:
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1081:
1077:
1069:
1064:
1062:
1057:
1055:
1050:
1049:
1046:
1040:
1039:Rare Diseases
1037:'s Office of
1036:
1032:
1029:
1025:
1023:
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1019:
1009:
1005:
1004:
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985:
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788:
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756:0-7216-2921-0
753:
749:
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732:
726:
722:
715:
713:
709:
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704:0-07-138076-0
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697:
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645:
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321:hyperhidrosis
316:
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69:
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60:
58:
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50:
45:
41:
36:
31:
19:
1723:
1703:
1271:(types I–IV)
1229:Diseases of
1132:
1121:Hair disease
1101:
1084:Nail disease
1001:
990:
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955:
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853:
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670:
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519:
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466:
456:, retrieved
445:GeneReviews®
444:
368:
359:
356:Epidemiology
350:
347:
336:
334:
317:
313:
289:
281:
271:
253:
243:
229:
222:
219:
202:
195:
181:that encode
172:
111:
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77:
76:
18:Pachyonychia
1140:Monilethrix
1111:Koilonychia
1097:Leukonychia
908:Q84.520), (
299:keratoderma
264:natal teeth
192:Inheritance
104:keratoderma
49:inheritance
1740:Categories
1237:and other
1162:Pili torti
1106:Onychauxis
957:DiseasesDB
859:2018-08-01
781:2018-08-01
676:2018-08-02
525:2018-08-01
458:2018-08-01
410:References
156:Hoarseness
1724:see also
1092:Anonychia
992:eMedicine
968:SNOMED CT
820:0926-9959
494:1097-6787
371:sirolimus
344:Treatment
211:Diagnosis
82:autosomal
57:Specialty
1614:(type 2)
1603:(type 2)
1514:(type 1)
1458:(type 1)
1447:(type 1)
1311:(type 2)
1231:collagen
1003:Orphanet
997:derm/812
973:39427000
912:Q84.530)
836:29684041
828:23363249
613:26060130
502:22264670
453:20301457
393:See also
387:anti-TNF
365:Research
205:mutation
198:autosome
186:proteins
153:Ear pain
144:Blisters
102:Plantar
85:dominant
1660:Laminin
1235:laminin
951:D009264
648:9618173
605:7545493
570:1873772
562:7539673
383:statins
183:keratin
1639:COL18:
1623:COL17:
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385:, and
262:, and
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1705:TECTA
1682:Other
1523:COL9:
1501:COL8:
962:32826
929:757.5
926:703.8
902:Q84.5
832:S2CID
609:S2CID
566:S2CID
375:siRNA
282:KRT17
272:KRT16
254:KRT6C
244:KRT6B
230:KRT6A
179:genes
169:Cause
122:Oral
1468:COL7
1432:COL6
1407:COL5
1388:COL4
1358:COL3
1292:COL2
1256:COL1
1008:2309
946:MeSH
935:OMIM
921:9-CM
910:ILDS
906:ILDS
824:PMID
816:ISSN
752:ISBN
725:ISBN
700:ISBN
644:PMID
601:PMID
558:PMID
498:PMID
490:ISSN
449:PMID
284:gene
274:gene
256:gene
246:gene
232:gene
1035:NIH
1033:at
917:ICD
893:ICD
808:doi
636:doi
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550:doi
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