KEGG DISEASE: Peeling skin 症候群

DISEASE: Peeling skin 症候群

エントリ

H00737

名称

Peeling skin 症候群

下位グループ

爪甲白斑を伴う表皮剥脱、肢端点状角化症、口唇炎および指結節 (PLACK)

概要

Peeling skin syndrome (PSS) is a group of rare autosomal recessive disorders characterized by superficial detachment of the epidermal corneal layers. PSS can be divided into two main types, acral PSS (APSS) and generalized PSS. APSS involves the palmar, plantar and dorsal surfaces of hands and feet. Generalized PSS can be further divided into the non-inflammatory (type A) and the inflammatory (type B) forms. Several underlying genetic causes of PSS have been identified.

カテゴリ

先天奇形

階層分類

ICD-11 による疾患分類 [BR:jp08403]
14 皮膚の疾患
  皮膚の遺伝性及び発達性疾患
   EC20  遺伝性角化症
    H00737  Peeling skin 症候群

病因遺伝子

(PSS1) CDSN [HSA:1041] [KO:K23457]
(PSS2) TGM5 [HSA:9333] [KO:K05622]
(PSS3) CHST8 [HSA:64377] [KO:K09672]
(PSS4) CSTA [HSA:1475] [KO:K13907]
(PSS5) SERPINB8 [HSA:5271] [KO:K13965]
(PSS6) FLG2 [HSA:388698] [KO:K10384]
(PLACK) CAST [HSA:831] [KO:K04281]

リンク

ICD-11:

EC20.1

ICD-10:

Q80.8

MeSH:

C564818 C536316

OMIM:

270300 609796 616265 607936 617115 618084 616295

文献

PMID:16935789

著者

Oji V, Traupe H

タイトル

Ichthyoses: differential diagnosis and molecular genetics.

雑誌

Eur J Dermatol 16:349-59 (2006)

文献

PMID:22066523

著者

Pavlovic S, Krunic AL, Bulj TK, Medenica MM, Fong K, Arita K, McGrath JA

タイトル

Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder.

雑誌

Pediatr Dermatol 29:258-63 (2012)
DOI:10.1111/j.1525-1470.2011.01563.x

文献

PMID:11100033

著者

Hashimoto K, Hamzavi I, Tanaka K, Shwayder T

タイトル

Acral peeling skin syndrome.

雑誌

J Am Acad Dermatol 43:1112-9 (2000)
DOI:10.1067/mjd.2000.103645

文献

PMID:21191406 (PSS1)

著者

Israeli S, Zamir H, Sarig O, Bergman R, Sprecher E

タイトル

Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin.

雑誌

J Invest Dermatol 131:779-81 (2011)
DOI:10.1038/jid.2010.363

文献

PMID:16380904 (PSS2)

著者

Cassidy AJ, van Steensel MA, Steijlen PM, van Geel M, van der Velden J, Morley SM, Terrinoni A, Melino G, Candi E, McLean WH

タイトル

A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome.

雑誌

Am J Hum Genet 77:909-17 (2005)
DOI:10.1086/497707

文献

PMID:22289416 (PSS3)

著者

Cabral RM, Kurban M, Wajid M, Shimomura Y, Petukhova L, Christiano AM

タイトル

Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome.

雑誌

Genomics 99:202-8 (2012)
DOI:10.1016/j.ygeno.2012.01.005

文献

PMID:23534700 (PSS4)

著者

Krunic AL, Stone KL, Simpson MA, McGrath JA

タイトル

Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A.

雑誌

Pediatr Dermatol 30:e87-8 (2013)
DOI:10.1111/pde.12092

文献

PMID:27476651 (PSS5)

著者

Pigors M, Sarig O, Heinz L, Plagnol V, Fischer J, Mohamad J, Malchin N, Rajpopat S, Kharfi M, Lestringant GG, Sprecher E, Kelsell DP, Blaydon DC

タイトル

Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions.

雑誌

Am J Hum Genet 99:430-6 (2016)
DOI:10.1016/j.ajhg.2016.06.004

文献

PMID:29505760 (PSS6)

著者

Bolling MC, Jan SZ, Pasmooij AMG, Lemmink HH, Franke LH, Yenamandra VK, Sinke RJ, van den Akker PC, Jonkman MF

タイトル

Generalized Ichthyotic Peeling Skin Syndrome due to FLG2 Mutations.

雑誌

J Invest Dermatol 138:1881-1884 (2018)
DOI:10.1016/j.jid.2018.01.038

文献

PMID:25683118 (PLACK)

著者

Lin Z, Zhao J, Nitoiu D, Scott CA, Plagnol V, Smith FJ, Wilson NJ, Cole C, Schwartz ME, McLean WH, Wang H, Feng C, Duo L, Zhou EY, Ren Y, Dai L, Chen Y, Zhang J, Xu X, O'Toole EA, Kelsell DP, Yang Y

タイトル

Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.

雑誌

Am J Hum Genet 96:440-7 (2015)
DOI:10.1016/j.ajhg.2014.12.026

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