197:(serpin family member 8) gene. This gene is produced by platelets and can bind to and inhibit the function of furin, which is a serine protease involved in platelet functions. It is also characterized by superficial peeling of the dorsal and palmar pores and skin of the hands and feet; the pores and skin of the forearms and legs may also be involved. Its symptoms include superficial peeling of small areas of the skin that involve the dorsal and palmar surfaces of the hands and feet, superficial scaling of forearms and legs, and acanthosis.
64:
40:
74:
185:(CSTA) gene. This gene is an intracellular thiol proteinase inhibitor. It has an essential role in desmosome-mediated cell-cellular adhesion inside the lower levels of the dermis. Its symptoms include well-circumcised peeling of skin on the extremities and neck, generalized dry skin with fine scaling and sparing of face, hyperkeratosis, and palmoplantar keratoderma
209:(filaggrin family member 2) gene. The function for this gene is vital for normal cellular-cell adhesion within the cornified cell layers. It is also critical for the integrity and mechanical strength of the stratum corneum of the epidermis. Its symptom include dryness of the skin, peeling of the skin. erythema at lesion sites, bullae, and hyper-pigmentation.
115:"Acral" refers to the fact that the peeling of the skin is most noticeable on the hands and feet of this state. Peeling happens sometimes on the arms and legs, too. The peeling is typically apparent from birth, although it may start in childhood or later on in life as well. Skin peeling is caused by sun, humidity, moisture, and friction.
144:(CDSN) gene. This gene localizes to the human epidermis and other epithelia. The protein experiences a chain of cleavages during corneocyte maturation. Its symptoms include short stature, abnormality of metabolism/homeostasis, scaling skin, pruritus, erythema, asthma, brittle hair, and abnormality of hair texture.
173:(CHST8) gene. This gene is characterized by a way of asymptomatic lifelong and non-stop dropping of the stratum corneum of the dermis. Its symptoms begin for the duration of the second half of the primary decade of existence and encompass generalized white scaling taking place over the upper and lower extremities.
250:
There is no remedy for peeling skin syndrome. Treatment focuses on avoiding skin damage and treating symptoms as they occur. Ointments are also used to minimize skin peeling and when the blister grows, sterile needles may be activated. The condition can be exacerbated by hot temperatures, humidity,
824:
Cabral, Rita M.; Kurban, Mazen; Wajid, Muhammad; Shimomura, Yutaka; Petukhova, Lynn; Christiano, Angela M. (2012-04). "Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome". Genomics. 99 (4): 202–208.
860:
160:
to proteins. It also adds to the development of the cornified cell envelope of keratinocytes. Its symptoms include excessive wrinkling of palmar skin, skin erosion, hyperpigmentation of the skin, ichthyosis, and allergy.
132:
Peeling skin syndrome is also associated with 6 syndromes that are each caused by a different genetic defect. The various syndromes include peeling skin syndrome 1, 2, 3, 4, 5, and 6.
259:
Only several dozen cases have been reported in the literature, making it rare, but because its symptoms are mild and similar to other disorders it could very well be under-diagnosed.
931:
268:
337:
875:
398:
251:
and friction. Individuals should be informed to avoid exacerbating triggers such as trauma, humidity, heat, perspiration, and water.
361:
416:"A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome"
293:
170:
278:
775:
926:
273:
904:
776:"Acral peeling skin syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
156:
gene. Transglutaminase 5 is best for catalyzing the cross-linking of proteins and the conjugation of
63:
39:
936:
799:
375:
560:"Peeling Skin Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials"
488:"Peeling Skin Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials"
826:
445:
357:
333:
52:
435:
427:
57:
17:
727:
631:
535:
463:
105:
559:
487:
440:
415:
283:
141:
920:
234:
229:
104:") is an autosomal recessive disorder characterized by lifelong peeling of the
869:
298:
239:
182:
583:
607:
308:
206:
157:
73:
830:
751:
703:
655:
449:
852:
899:
224:
109:
414:
Cassidy AJ, van
Steensel MA, Steijlen PM, et al. (December 2005).
864:
303:
194:
431:
752:"OMIM Clinical Synopsis - #618084 - PEELING SKIN SYNDROME 6; PSS6"
704:"OMIM Clinical Synopsis - #617115 - PEELING SKIN SYNDROME 5; PSS5"
656:"OMIM Clinical Synopsis - #607936 - PEELING SKIN SYNDROME 4; PSS4"
72:
328:
Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
880:
679:
511:
402:
288:
153:
120:
825:
doi:10.1016/j.ygeno.2012-01-005. ISSN 1089-8646. PMC 4362535.
205:
Peeling skin syndrome 6 is caused by a genetic defect in the
193:
Peeling skin syndrome 5 is caused by a genetic defect in the
181:
Peeling skin syndrome 4 is caused by a genetic defect in the
169:
Peeling skin syndrome 3 is caused by a genetic defect in the
152:
Peeling Skin
Syndrome 2 is caused by a genetic defect in the
140:
Peeling skin syndrome 1 is caused by a genetic defect in the
728:"FLG2 Gene - GeneCards | FILA2 Protein | FILA2 Antibody"
680:"OMIM Entry - # 617115 - PEELING SKIN SYNDROME 5; PSS5"
608:"OMIM Entry - # 616265 - PEELING SKIN SYNDROME 3; PSS3"
584:"OMIM Entry - # 609796 - PEELING SKIN SYNDROME 2; PSS2"
632:"CSTA Gene - GeneCards | CYTA Protein | CYTA Antibody"
536:"TGM5 Gene - GeneCards | TGM5 Protein | TGM5 Antibody"
464:"CDSN Gene - GeneCards | CDSN Protein | CDSN Antibody"
842:
890:
846:
51:
32:
112:, short stature, and easily removed anagen hair.
512:"OMIM Entry - * 602593 - CORNEODESMOSIN; CDSN"
354:Fitzpatrick's Dermatology in General Medicine
8:
269:Idiopathic calcified nodules of the scrotum
843:
77:Peeling skin syndrome in the legs and feet
62:
38:
29:
439:
332:. St. Louis: Mosby. pp. Chapter 56.
932:Genetic disorders with OMIM but no gene
320:
118:The acral form can be associated with
7:
806:. U.S. National Library of Medicine
399:Online Mendelian Inheritance in Man
25:
102:keratolysis exfoliativa congenita
47:Infant with peeling skin syndrome
218:Abnormal blistering of the skin
94:familial continual skin peeling
90:continual peeling skin syndrome
1:
800:"Acral peeling skin syndrome"
376:"Acral peeling skin syndrome"
294:Carbohydrate sulfotransferase
171:carbohydrate sulfotransferase
108:, and may be associated with
279:List of cutaneous conditions
221:Abnormality of hair texture
86:acral peeling skin syndrome
18:Acral peeling skin syndrome
953:
374:Reference, Genetics Home.
352:Freedberg, et al. (2003).
780:rarediseases.info.nih.gov
330:Dermatology: 2-Volume Set
98:idiopathic deciduous skin
46:
37:
356:(6th ed.). McGraw-Hill.
804:Genetics Home Reference
380:Genetics Home Reference
274:Keratolysis exfoliativa
201:Peeling skin syndrome 6
189:Peeling skin syndrome 5
177:Peeling skin syndrome 4
165:Peeling skin syndrome 3
148:Peeling skin syndrome 2
136:Peeling skin syndrome 1
78:
82:Peeling skin syndrome
76:
33:Peeling skin syndrome
891:External resources
213:Symptoms and signs
79:
914:
913:
732:www.genecards.org
636:www.genecards.org
564:www.malacards.org
540:www.genecards.org
492:www.malacards.org
468:www.genecards.org
420:Am. J. Hum. Genet
339:978-1-4160-2999-1
71:
70:
27:Medical condition
16:(Redirected from
944:
844:
816:
815:
813:
811:
796:
790:
789:
787:
786:
772:
766:
765:
763:
762:
748:
742:
741:
739:
738:
724:
718:
717:
715:
714:
700:
694:
693:
691:
690:
676:
670:
669:
667:
666:
652:
646:
645:
643:
642:
628:
622:
621:
619:
618:
604:
598:
597:
595:
594:
580:
574:
573:
571:
570:
556:
550:
549:
547:
546:
532:
526:
525:
523:
522:
508:
502:
501:
499:
498:
484:
478:
477:
475:
474:
460:
454:
453:
443:
411:
405:
396:
390:
389:
387:
386:
371:
365:
350:
344:
343:
325:
84:(also known as "
67:
66:
58:Medical genetics
42:
30:
21:
952:
951:
947:
946:
945:
943:
942:
941:
917:
916:
915:
910:
909:
886:
885:
855:
841:
836:
820:
819:
809:
807:
798:
797:
793:
784:
782:
774:
773:
769:
760:
758:
750:
749:
745:
736:
734:
726:
725:
721:
712:
710:
702:
701:
697:
688:
686:
678:
677:
673:
664:
662:
654:
653:
649:
640:
638:
630:
629:
625:
616:
614:
606:
605:
601:
592:
590:
582:
581:
577:
568:
566:
558:
557:
553:
544:
542:
534:
533:
529:
520:
518:
510:
509:
505:
496:
494:
486:
485:
481:
472:
470:
462:
461:
457:
413:
412:
408:
397:
393:
384:
382:
373:
372:
368:
351:
347:
340:
327:
326:
322:
317:
265:
257:
248:
215:
203:
191:
179:
167:
150:
138:
130:
106:stratum corneum
61:
28:
23:
22:
15:
12:
11:
5:
950:
948:
940:
939:
934:
929:
927:Genodermatoses
919:
918:
912:
911:
908:
907:
895:
894:
892:
888:
887:
884:
883:
872:
856:
851:
850:
848:
847:Classification
840:
839:External links
837:
835:
834:
821:
818:
817:
791:
767:
743:
719:
695:
671:
647:
623:
599:
575:
551:
527:
503:
479:
455:
432:10.1086/497707
406:
391:
366:
345:
338:
319:
318:
316:
313:
312:
311:
306:
301:
296:
291:
286:
284:Corneodesmosin
281:
276:
271:
264:
261:
256:
253:
247:
244:
243:
242:
237:
232:
227:
222:
219:
214:
211:
202:
199:
190:
187:
178:
175:
166:
163:
149:
146:
142:corneodesmosin
137:
134:
129:
126:
69:
68:
55:
49:
48:
44:
43:
35:
34:
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
949:
938:
935:
933:
930:
928:
925:
924:
922:
906:
902:
901:
897:
896:
893:
889:
882:
878:
877:
873:
871:
867:
866:
862:
858:
857:
854:
849:
845:
838:
832:
828:
823:
822:
805:
801:
795:
792:
781:
777:
771:
768:
757:
753:
747:
744:
733:
729:
723:
720:
709:
705:
699:
696:
685:
681:
675:
672:
661:
657:
651:
648:
637:
633:
627:
624:
613:
609:
603:
600:
589:
585:
579:
576:
565:
561:
555:
552:
541:
537:
531:
528:
517:
513:
507:
504:
493:
489:
483:
480:
469:
465:
459:
456:
451:
447:
442:
437:
433:
429:
426:(6): 909–17.
425:
421:
417:
410:
407:
404:
400:
395:
392:
381:
377:
370:
367:
363:
362:0-07-138076-0
359:
355:
349:
346:
341:
335:
331:
324:
321:
314:
310:
307:
305:
302:
300:
297:
295:
292:
290:
287:
285:
282:
280:
277:
275:
272:
270:
267:
266:
262:
260:
254:
252:
245:
241:
238:
236:
235:Hyperhidrosis
233:
231:
230:Aminoaciduria
228:
226:
223:
220:
217:
216:
212:
210:
208:
200:
198:
196:
188:
186:
184:
176:
174:
172:
164:
162:
159:
155:
147:
145:
143:
135:
133:
127:
125:
123:
122:
116:
113:
111:
107:
103:
99:
95:
91:
87:
83:
75:
65:
59:
56:
54:
50:
45:
41:
36:
31:
19:
898:
874:
859:
808:. Retrieved
803:
794:
783:. Retrieved
779:
770:
759:. Retrieved
755:
746:
735:. Retrieved
731:
722:
711:. Retrieved
707:
698:
687:. Retrieved
683:
674:
663:. Retrieved
659:
650:
639:. Retrieved
635:
626:
615:. Retrieved
611:
602:
591:. Retrieved
587:
578:
567:. Retrieved
563:
554:
543:. Retrieved
539:
530:
519:. Retrieved
515:
506:
495:. Retrieved
491:
482:
471:. Retrieved
467:
458:
423:
419:
409:
394:
383:. Retrieved
379:
369:
353:
348:
329:
323:
258:
249:
204:
192:
180:
168:
151:
139:
131:
119:
117:
114:
101:
97:
93:
89:
85:
81:
80:
921:Categories
785:2020-04-29
761:2020-05-06
737:2020-05-06
713:2020-05-06
689:2020-05-06
665:2020-05-06
641:2020-05-06
617:2020-05-06
593:2020-05-06
569:2020-05-06
545:2020-05-06
521:2020-05-06
497:2020-05-06
473:2020-05-06
385:2020-04-29
315:References
299:Cystatin A
240:Ichthyosis
183:cystatin A
158:polyamines
937:Syndromes
309:Filaggrin
255:Frequency
246:Treatment
207:filaggrin
128:Syndromes
53:Specialty
900:Orphanet
831:22289416
810:17 April
756:omim.org
708:omim.org
684:omim.org
660:omim.org
612:omim.org
588:omim.org
516:omim.org
450:16380904
401:(OMIM):
263:See also
225:Dry skin
110:pruritus
100:", and "
441:1285176
881:270300
829:
448:
438:
403:609796
360:
336:
304:Serpin
195:serpin
60:
870:Q80.8
876:OMIM
827:PMID
812:2018
446:PMID
358:ISBN
334:ISBN
289:TGM5
154:TGM5
121:TGM5
96:", "
92:", "
88:", "
905:817
861:ICD
436:PMC
428:doi
923::
903::
879::
868::
865:10
802:.
778:.
754:.
730:.
706:.
682:.
658:.
634:.
610:.
586:.
562:.
538:.
514:.
490:.
466:.
444:.
434:.
424:77
422:.
418:.
378:.
124:.
863:-
853:D
833:.
814:.
788:.
764:.
740:.
716:.
692:.
668:.
644:.
620:.
596:.
572:.
548:.
524:.
500:.
476:.
452:.
430::
388:.
364:.
342:.
20:)
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
