KEGG DISEASE: Peeling skin syndrome

KEGG

DISEASE: Peeling skin syndrome

Entry

H00737                      Disease

Name

Peeling skin syndrome

Subgroup

Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK)

Description

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.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC20  Genetic disorders of keratinisation
    H00737  Peeling skin syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06545  Cornified envelope formation
   H00737  Peeling skin syndrome

Pathway

hsa04382 Cornified envelope formation

Network

nt06545 Cornified envelope formation

Gene

(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]

Other DBs

ICD-11:

MeSH:

C564818 C536316

OMIM:

270300 609796 616265 607936 617115 618084 616295

Reference

Authors

Oji V, Traupe H

Title

Ichthyoses: differential diagnosis and molecular genetics.

Journal

Eur J Dermatol 16:349-59 (2006)

Reference

Authors

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

Title

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

Journal

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

Reference

Authors

Hashimoto K, Hamzavi I, Tanaka K, Shwayder T

Title

Acral peeling skin syndrome.

Journal

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

Reference

PMID:21191406 (PSS1)

Authors

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

Title

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

Journal

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

Reference

PMID:16380904 (PSS2)

Authors

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

Title

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

Journal

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

Reference

PMID:22289416 (PSS3)

Authors

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

Title

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

Journal

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

Reference

PMID:23534700 (PSS4)

Authors

Krunic AL, Stone KL, Simpson MA, McGrath JA

Title

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

Journal

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

Reference

PMID:27476651 (PSS5)

Authors

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

Title

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

Journal

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

Reference

PMID:29505760 (PSS6)

Authors

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

Title

Generalized Ichthyotic Peeling Skin Syndrome due to FLG2 Mutations.

Journal

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

Reference

PMID:25683118 (PLACK)

Authors

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

Title

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

Journal

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

LinkDB

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