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at increased risk is possible if the disease-causing mutation in an affected family member is known; however, requests for prenatal testing for conditions such as HED2 are not common.
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for the four most common GJB6 mutations is available on a clinical basis and detects mutations in approximately 100% of affected individuals.
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may develop during childhood and increases in severity with age. The clinical manifestations are highly variable even within the same family.
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HED2 symptoms can be treated with special hair care products to help manage dry and sparse hair, wigs, artificial nails and
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have also been reported. Offspring of affected individuals have a 50% chance of inheriting the mutation and being affected.
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Hidrotic ectodermal dysplasia 2, or
Clouston syndrome (HED2) is characterized by partial or total alopecia,
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is also available on a clinical basis for those in whom none of the four known mutations is identified.
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and then gradually become dystrophic, thick, and distally separated from the nail bed.
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in most affected individuals. GJB6 is the only gene known to be associated with HED2.
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dominant manner. Most individuals with HED2 have an affected parent. De novo
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185:. Sparse scalp hair and dysplastic nails are seen early in life. In
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that is wiry, brittle, and pale. It is often associated with patchy
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GeneReviews/NCBI/NIH/UW entry on
Hidrotic Ectodermal Dysplasia 2
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288:
List of cutaneous neoplasms associated with systemic syndromes
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189:, scalp hair is wiry, brittle, patchy, and pale. Progressive
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60:. Unsourced material may be challenged and removed.
229:HED2 is suspected after infancy on the basis of
337:OMIM entries on Hidrotic Ectodermal Dysplasia 2
392:
308:Fitzpatrick's Dermatology in General Medicine
8:
812:
595:
420:
399:
385:
377:
342:
69:"Clouston's hidrotic ectodermal dysplasia"
1304:Progressive symmetric erythrokeratodermia
120:Learn how and when to remove this message
1318:Clouston's hidrotic ectodermal dysplasia
268:to relieve palmoplantar hyperkeratosis.
149:, GJB6 or connexin-30, characterized by
299:
1265:Keratitis–ichthyosis–deafness syndrome
1084:Congenital absence of the vas deferens
27:Medical condition affecting scalp hair
7:
58:adding citations to reliable sources
935:Jervell and Lange-Nielsen syndrome
874:Jervell and Lange-Nielsen syndrome
197:. The nails may be milky white in
25:
18:Fischer–Jacobsen–Clouston syndrome
138:is a medical condition caused by
1345:Nephrogenic diabetes insipidus 2
733:Congenital insensitivity to pain
728:Paroxysmal extreme pain disorder
656:Hypokalemic periodic paralysis 2
507:Hypokalemic periodic paralysis 1
34:
1237:Hypoplastic left heart syndrome
1048:Thyrotoxic periodic paralysis 2
661:Hyperkalemic periodic paralysis
512:Thyrotoxic periodic paralysis 1
133:Clouston's hidrotic ectodermal
45:needs additional citations for
1299:Erythrokeratodermia variabilis
1251:Charcot–Marie–Tooth disease X1
955:Familial atrial fibrillation 3
860:Spinocerebellar ataxia type-13
846:Familial atrial fibrillation 7
613:Familial hemiplegic migraine 3
440:Familial hemiplegic migraine 1
193:may lead to total alopecia by
1:
1145:Vitelliform macular dystrophy
671:Potassium-aggravated myotonia
450:Spinocerebellar ataxia type-6
283:List of cutaneous conditions
1232:Hallermann–Streiff syndrome
1227:Oculodentodigital dysplasia
792:Pseudohypoaldosteronism 1AR
1406:
310:. (6th ed.). McGraw-Hill.
306:Freedberg, et al. (2003).
235:Targeted mutation analysis
1380:Palmoplantar keratodermas
1355:
408:Diseases of ion channels
278:Palmoplantar keratoderma
213:HED2 is inherited in an
203:Palmoplantar keratoderma
1010:Andersen–Tawil syndrome
183:clubbing of the fingers
1275:Bart–Pumphrey syndrome
666:Paramyotonia congenita
551:Malignant hyperthermia
1200:Mucolipidosis type IV
745:Constitutively active
177:(especially over the
1131:Osteopetrosis A2, B4
940:Romano–Ward syndrome
556:Central core disease
54:improve this article
685:Long QT syndrome 10
1280:Vohwinkel syndrome
1270:Ichthyosis hystrix
1159:Bartter syndrome 3
1103:Myotonia congenita
1015:Long QT syndrome 7
996:Bartter syndrome 2
950:Long QT syndrome 1
907:Brugada syndrome 5
893:Long QT syndrome 6
879:Long QT syndrome 5
723:Febrile seizure 3B
704:Long QT syndrome 3
699:Brugada syndrome 1
637:Brugada syndrome 6
623:Febrile seizure 3A
526:Brugada syndrome 4
474:Long QT syndrome 8
469:Brugada syndrome 3
1367:
1366:
1058:
1057:
1020:Short QT syndrome
945:Short QT syndrome
921:Short QT syndrome
832:Episodic ataxia 1
808:Potassium channel
802:
801:
766:Liddle's syndrome
585:
584:
488:Ocular albinism 2
445:Episodic ataxia 2
374:
373:
239:Sequence analysis
231:physical features
171:hyperpigmentation
130:
129:
122:
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16:(Redirected from
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1064:Chloride channel
981:Inward-rectifier
813:
596:
464:Timothy syndrome
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394:
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378:
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250:Prenatal testing
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118:
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103:
62:
38:
30:
21:
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1370:
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1098:Thomsen disease
1079:Cystic fibrosis
1054:
975:
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739:
718:Erythromelalgia
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532:
416:Calcium channel
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328:
326:Further reading
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199:early childhood
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28:
23:
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15:
12:
11:
5:
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1385:Genodermatoses
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1149:
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1147:
1135:
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1121:
1120:
1119:
1117:Dent's disease
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591:Sodium channel
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346:Classification
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219:gene mutations
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169:of the nails,
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110:September 2015
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33:
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
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1391:
1390:Rare diseases
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842:
841:
837:
833:
830:
829:
828:
827:
823:
822:
820:
818:
817:Voltage-gated
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811:
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793:
790:
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788:
787:
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599:Voltage-gated
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455:
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425:Voltage-gated
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316:0-07-138076-0
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71: –
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66:
65:Find sources:
59:
55:
49:
48:
43:This article
41:
37:
32:
31:
19:
1360:ion channels
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537:Ligand gated
518:
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212:
164:
161:Presentation
132:
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107:
97:
90:
83:
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64:
52:Please help
47:verification
44:
1171:TRP channel
254:pregnancies
1374:Categories
1358:See also:
294:References
266:emollients
151:scalp hair
80:newspapers
260:Treatment
245:Screening
225:Diagnosis
215:autosomal
191:hair loss
167:dystrophy
140:mutations
135:dysplasia
1212:Connexin
272:See also
209:Genetics
155:alopecia
144:connexin
642:GEFS+ 1
618:GEFS+ 2
501:CACNA1S
482:CACNA1F
458:CACNA1C
434:CACNA1A
195:puberty
187:infancy
181:), and
173:of the
94:scholar
1194:TRPML1
1153:CLCNKB
1042:KCNJ18
1028:KCNJ11
786:SCNN1G
780:SCNN1B
774:SCNN1A
760:SCNN1G
754:SCNN1B
520:CACNB2
493:CSNB2A
365:129500
314:
179:joints
96:
89:
82:
75:
67:
1330:Porin
1186:FSGS2
1180:TRPC6
1139:BEST1
1125:CLCN7
1111:CLCN5
1092:CLCN1
1034:TNDM3
1004:KCNJ2
990:KCNJ1
969:BFNS1
963:KCNQ2
929:KCNQ1
915:KCNH2
901:KCNE3
887:KCNE2
868:KCNE1
854:KCNC3
840:KCNA5
826:KCNA1
712:SCN9A
693:SCN5A
679:SCN4B
650:SCN4A
631:SCN1B
607:SCN1A
575:ARVD2
570:CPVT1
142:in a
101:JSTOR
87:books
1339:AQP2
1312:GJB6
1293:GJB4
1289:GJB3
1259:GJB2
1245:GJB1
1221:GJA1
1073:CFTR
564:RYR2
545:RYR1
360:OMIM
312:ISBN
252:for
175:skin
147:gene
73:news
56:by
1376::
363::
157:.
1291:/
1282:)
783:/
777:/
757:/
400:e
393:t
386:v
352:D
318:.
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117:(
112:)
108:(
98:·
91:·
84:·
77:·
50:.
20:)
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