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Peeling skin syndrome type A(PSS3)

MedGen UID:
864166
•Concept ID:
C4015729
•
Disease or Syndrome
Synonyms: Peeling skin syndrome 3; PSS3
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0014555
OMIM®: 616265
Orphanet: ORPHA263548

Definition

Peeling skin syndrome-3 (PSS3) is characterized by asymptomatic lifelong and continuous shedding of the stratum corneum of the epidermis. Symptoms start during the second half of the first decade of life and consist of generalized white scaling occurring over the upper and lower extremities (Cabral et al. (2012)). For a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 (270300). [from OMIM]

Clinical features

From HPO
Pruritus
MedGen UID:
19534
•Concept ID:
C0033774
•
Sign or Symptom
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
See: Feature record | Search on this feature
Erythema
MedGen UID:
11999
•Concept ID:
C0041834
•
Disease or Syndrome
Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.
See: Feature record | Search on this feature
Abnormal hair morphology
MedGen UID:
56381
•Concept ID:
C0157733
•
Finding
An abnormality of the hair.
See: Feature record | Search on this feature
White scaling skin
MedGen UID:
892516
•Concept ID:
C4073146
•
Finding
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPeeling skin syndrome type A

Professional guidelines

PubMed

Differential Diagnosis of Genetic Disorders Associated with Moderate to Severe Refractory Eczema and Elevated Immunoglobulin E.
Arjona Aguilera C, Albarrán Planelles C, Tercedor Sánchez J
Actas Dermosifiliogr 2016 Mar;107(2):116-24. Epub 2015 Dec 1 doi: 10.1016/j.ad.2015.09.013. PMID: 26593686

Recent clinical studies

Etiology

Acral peeling in Nagashima type palmo-plantar keratosis patients reveals the role of serine protease inhibitor B 7 in keratinocyte adhesion.
Cohen-Barak E, Azzam W, Koetsier JL, Danial-Farran N, Barcan M, Hriesh M, Khayat M, Edison N, Krausz J, Gafni-Amsalem C, Kubo A, Godsel LM, Ziv M, Allon-Shalev S
Exp Dermatol 2022 Feb;31(2):214-222. Epub 2021 Aug 17 doi: 10.1111/exd.14444. PMID: 34379845Free PMC Article
Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A.
Mohamad J, Sarig O, Godsel LM, Peled A, Malchin N, Bochner R, Vodo D, Rabinowitz T, Pavlovsky M, Taiber S, Fried M, Eskin-Schwartz M, Assi S, Shomron N, Uitto J, Koetsier JL, Bergman R, Green KJ, Sprecher E
J Invest Dermatol 2018 Aug;138(8):1736-1743. Epub 2018 Jun 27 doi: 10.1016/j.jid.2018.04.032. PMID: 29758285Free PMC Article
The glycan-specific sulfotransferase (R77W)GalNAc-4-ST1 putatively responsible for peeling skin syndrome has normal properties consistent with a simple sequence polymorphisim.
Fiete D, Mi Y, Beranek M, Baenziger NL, Baenziger JU
Glycobiology 2017 May 1;27(5):450-456. doi: 10.1093/glycob/cwx018. PMID: 28204496Free PMC Article
Aberrant distribution patterns of corneodesmosomal components of tape-stripped corneocytes in atopic dermatitis and related skin conditions (ichthyosis vulgaris, Netherton syndrome and peeling skin syndrome type B).
Igawa S, Kishibe M, Honma M, Murakami M, Mizuno Y, Suga Y, Seishima M, Ohguchi Y, Akiyama M, Hirose K, Ishida-Yamamoto A, Iizuka H
J Dermatol Sci 2013 Oct;72(1):54-60. Epub 2013 Jun 1 doi: 10.1016/j.jdermsci.2013.05.004. PMID: 23810772
Peeling skin diseases: 21 cases from Turkey and a review of the literature.
Köse O, Safali M, Koç E, Arca E, Açikgöz G, Özmen I, Yeniay Y
J Eur Acad Dermatol Venereol 2012 Jul;26(7):844-8. Epub 2011 Jun 29 doi: 10.1111/j.1468-3083.2011.04166.x. PMID: 21711468

Diagnosis

A case of peeling skin syndrome type 1 with novel CDSN gene variation successfully treated with upadacitinib.
Chen Y, Geng J, Xiao Y, Zhou X, Li M, Li W
J Dermatol 2025 Mar;52(3):526-530. Epub 2024 Oct 8 doi: 10.1111/1346-8138.17489. PMID: 39377561
PLACK syndrome: the penny dropped.
O'Sullivan S, Ozoemena L, Liu L, McGrath JA, Mellerio JE, Martinez AE
Clin Exp Dermatol 2020 Dec;45(8):1091-1092. Epub 2020 Sep 12 doi: 10.1111/ced.14417. PMID: 32918489
Acral Peeling Skin Syndrome: A Case Report and Literature Review.
Ruiz Rivero J, Campos Dominguez M, Parra Blanco V, Suárez Fernández R
Actas Dermosifiliogr 2016 Oct;107(8):702-4. Epub 2016 May 18 doi: 10.1016/j.ad.2016.03.006. PMID: 27206604
Peeling skin diseases: 21 cases from Turkey and a review of the literature.
Köse O, Safali M, Koç E, Arca E, Açikgöz G, Özmen I, Yeniay Y
J Eur Acad Dermatol Venereol 2012 Jul;26(7):844-8. Epub 2011 Jun 29 doi: 10.1111/j.1468-3083.2011.04166.x. PMID: 21711468
Peeling skin syndrome.
Ilknur T, Demirtaşoğlu M, Akarsu S, Lebe B, Güneş AT, Ozkan S
Eur J Dermatol 2006 May-Jun;16(3):287-9. PMID: 16709496

Therapy

A case of peeling skin syndrome type 1 with novel CDSN gene variation successfully treated with upadacitinib.
Chen Y, Geng J, Xiao Y, Zhou X, Li M, Li W
J Dermatol 2025 Mar;52(3):526-530. Epub 2024 Oct 8 doi: 10.1111/1346-8138.17489. PMID: 39377561
Acral Peeling Skin Syndrome: Two Unusual Cases and the Therapeutic Potential of Botulinum Toxin.
Stjernbrandt AL, Burstedt M, Holmbom E, Shayesteh A
Acta Derm Venereol 2024 Apr 9;104:adv24305. doi: 10.2340/actadv.v104.24305. PMID: 38590258Free PMC Article
Exome-based search for recurrent disease-causing alleles in Russian population.
Yanus GA, Akhapkina TA, Whitehead AJ, Bizin IV, Iyevleva AG, Kuligina ES, Aleksakhina SN, Anisimova MO, Holmatov MM, Romanko AA, Zaitseva OA, Yatsuk OS, Zagorodnev KA, Matsneva MA, Koloskov AV, Togo AV, Suspitsin EN, Imyanitov EN
Eur J Med Genet 2019 Jul;62(7):103656. Epub 2019 Apr 24 doi: 10.1016/j.ejmg.2019.04.013. PMID: 31028847
Palmoplantar peeling secondary to sirolimus therapy.
Liu LS, McNiff JM, Colegio OR
Am J Transplant 2014 Jan;14(1):221-5. Epub 2013 Nov 13 doi: 10.1111/ajt.12511. PMID: 24224736Free PMC Article

Prognosis

Transglutaminase diseases: from biochemistry to the bedside.
Lorand L, Iismaa SE
FASEB J 2019 Jan;33(1):3-12. doi: 10.1096/fj.201801544R. PMID: 30593123
Novel TGM5 mutations in acral peeling skin syndrome.
van der Velden JJ, van Geel M, Nellen RG, Jonkman MF, McGrath JA, Nanda A, Sprecher E, van Steensel MA, McLean WH, Cassidy AJ
Exp Dermatol 2015 Apr;24(4):285-9. doi: 10.1111/exd.12650. PMID: 25644735
Adult-onset acral peeling skin syndrome in a non-identical twin: a case report in South Africa.
Mathew R, Omole OB, Rigby J, Grayson W
Am J Case Rep 2014 Dec 31;15:589-92. doi: 10.12659/AJCR.892110. PMID: 25549719Free PMC Article
Peeling off the genetics of atopic dermatitis-like congenital disorders.
Samuelov L, Sprecher E
J Allergy Clin Immunol 2014 Oct;134(4):808-15. doi: 10.1016/j.jaci.2014.07.061. PMID: 25282561
Peeling skin diseases: 21 cases from Turkey and a review of the literature.
Köse O, Safali M, Koç E, Arca E, Açikgöz G, Özmen I, Yeniay Y
J Eur Acad Dermatol Venereol 2012 Jul;26(7):844-8. Epub 2011 Jun 29 doi: 10.1111/j.1468-3083.2011.04166.x. PMID: 21711468

Clinical prediction guides

Acral peeling in Nagashima type palmo-plantar keratosis patients reveals the role of serine protease inhibitor B 7 in keratinocyte adhesion.
Cohen-Barak E, Azzam W, Koetsier JL, Danial-Farran N, Barcan M, Hriesh M, Khayat M, Edison N, Krausz J, Gafni-Amsalem C, Kubo A, Godsel LM, Ziv M, Allon-Shalev S
Exp Dermatol 2022 Feb;31(2):214-222. Epub 2021 Aug 17 doi: 10.1111/exd.14444. PMID: 34379845Free PMC Article
Transglutaminase diseases: from biochemistry to the bedside.
Lorand L, Iismaa SE
FASEB J 2019 Jan;33(1):3-12. doi: 10.1096/fj.201801544R. PMID: 30593123
Novel TGM5 mutations in acral peeling skin syndrome.
van der Velden JJ, van Geel M, Nellen RG, Jonkman MF, McGrath JA, Nanda A, Sprecher E, van Steensel MA, McLean WH, Cassidy AJ
Exp Dermatol 2015 Apr;24(4):285-9. doi: 10.1111/exd.12650. PMID: 25644735
Peeling skin diseases: 21 cases from Turkey and a review of the literature.
Köse O, Safali M, Koç E, Arca E, Açikgöz G, Özmen I, Yeniay Y
J Eur Acad Dermatol Venereol 2012 Jul;26(7):844-8. Epub 2011 Jun 29 doi: 10.1111/j.1468-3083.2011.04166.x. PMID: 21711468
Peeling skin syndrome with hair changes.
Mevorah B, Orion E, de Viragh P, Bergman R, Gat A, Legume C, Van Neste DJ, Brenner S
Dermatology 1998;197(4):373-6. doi: 10.1159/000018034. PMID: 9873177

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      Clinical tests in GTR
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