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Peeling skin syndrome type A(PSS3)

MedGen UID:
864166
Concept ID:
C4015729
Disease or Syndrome
Synonym: Peeling skin syndrome 3
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).
 
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.
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.
Abnormal hair morphology
MedGen UID:
56381
Concept ID:
C0157733
Finding
An abnormality of the hair.
White scaling skin
MedGen UID:
892516
Concept ID:
C4073146
Finding

Term Hierarchy

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

Professional guidelines

PubMed

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

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
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
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
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
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

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
Szczecinska W, Nesteruk D, Wertheim-Tysarowska K, Greenblatt DT, Baty D, Browne F, Liu L, Ozoemena L, Terron-Kwiatkowski A, McGrath JA, Mellerio JE, Morton J, Woźniak K, Kowalewski C, Has C, Moss C
Br J Dermatol 2014 Nov;171(5):1206-10. Epub 2014 Oct 20 doi: 10.1111/bjd.12964. PMID: 24628291
Sarma N, Boler AK, Bhanja DC
Indian J Dermatol Venereol Leprol 2012 Sep-Oct;78(5):625-31. doi: 10.4103/0378-6323.100583. PMID: 22960820
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
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

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
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
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

Lorand L, Iismaa SE
FASEB J 2019 Jan;33(1):3-12. doi: 10.1096/fj.201801544R. PMID: 30593123
Gorczyca D, Węgłowska J, Prescha A, Woźniak Z, Nesteruk D, Wertheim-Tysarowska K, Śmigiel R
Acta Dermatovenerol Croat 2015;23(1):59-62. PMID: 25969915
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
Samuelov L, Sprecher E
J Allergy Clin Immunol 2014 Oct;134(4):808-15. doi: 10.1016/j.jaci.2014.07.061. PMID: 25282561
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

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
Lorand L, Iismaa SE
FASEB J 2019 Jan;33(1):3-12. doi: 10.1096/fj.201801544R. PMID: 30593123
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
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
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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