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Peeling skin syndrome 1(PSS1)

MedGen UID:
336530
Concept ID:
C1849193
Disease or Syndrome
Synonyms: KERATOLYSIS EXFOLIATIVA CONGENITA; Peeling skin syndrome type B; Peeling skin syndrome, inflammatory type B (subtype); Peeling skin syndrome, noninflammatory type A (subtype); PSS1; SKIN PEELING, FAMILIAL CONTINUOUS GENERALIZED
SNOMED CT: Hereditary skin peeling syndrome (724838009); Peeling skin syndrome (724838009); Familial continuous skin peeling syndrome (724838009)
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).
 
Gene (location): CDSN (6p21.33)
 
Monarch Initiative: MONDO:0024548
OMIM®: 270300
Orphanet: ORPHA263553

Definition

A group of rare autosomal recessive forms of ichthyosis with clinical characteristics of superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. Presents with either an acral or a generalised distribution. [from SNOMEDCT_US]

Clinical features

From HPO
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Asthma
MedGen UID:
2109
Concept ID:
C0004096
Disease or Syndrome
Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
Erythroderma
MedGen UID:
3767
Concept ID:
C0011606
Disease or Syndrome
An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.
Eosinophilia
MedGen UID:
41824
Concept ID:
C0014457
Disease or Syndrome
Increased count of eosinophils in the blood.
Increased circulating IgE concentration
MedGen UID:
116018
Concept ID:
C0236175
Finding
An abnormally increased overall level of immunoglobulin E in blood.
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.
Onycholysis
MedGen UID:
39324
Concept ID:
C0085661
Disease or Syndrome
Detachment of the nail from the nail bed.
Nail dystrophy
MedGen UID:
66368
Concept ID:
C0221260
Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Scaling skin
MedGen UID:
472970
Concept ID:
C0237849
Finding
Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.
Brittle hair
MedGen UID:
120480
Concept ID:
C0263490
Disease or Syndrome
Fragile, easily breakable hair, i.e., with reduced tensile strength.
Palmoplantar hyperhidrosis
MedGen UID:
224808
Concept ID:
C1274743
Disease or Syndrome
Hyperhidrosis palmaris et plantaris (HYPRPP) is characterized by excessive perspiration of the eccrine sweat gland in the palm, sole, and axilla. Perspiration in those affected may be aggravated by emotional stimuli (summary by Higashimoto et al., 2006). Stolman (1998) noted that hyperhidrosis may be complicated by skin maceration as well as secondary microbial infections, and that treatment modalities are associated with complications.
Cleavage at junction of stratum corneum and stratum granulosum
MedGen UID:
395597
Concept ID:
C2678352
Finding
Splitting of the skin (cell-cell adhesion of keratinocytes) localized to the interface between the stratum corneum and stratum granulosum layers of the epidermis.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPeeling skin syndrome 1

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
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
Srinivasaraghavan R, Krishnamurthy S, Chandar R, Mahadevan S, Chandrashekar L, Rajesh NG
Pediatr Dermatol 2015 Mar-Apr;32(2):244-7. Epub 2014 Sep 5 doi: 10.1111/pde.12374. PMID: 25196305
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
Hausauer AK, Cohen DE
Dermatol Online J 2015 Dec 16;21(12) PMID: 26990340
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
Aras N, Sutman K, Tastan HB, Baykal K, Can C
J Am Acad Dermatol 1994 Jan;30(1):135-6. doi: 10.1016/s0190-9622(08)81903-2. PMID: 8277017

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
Sawan ZA, Almehaidib A, Binamer Y, Monies D, Alsaleem KA, Aldekhail W, Alkuraya FS, Abanemai M
Clin Genet 2021 Apr;99(4):572-576. Epub 2021 Jan 20 doi: 10.1111/cge.13919. PMID: 33410500
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
Alnasif N, Zoschke C, Fleige E, Brodwolf R, Boreham A, Rühl E, Eckl KM, Merk HF, Hennies HC, Alexiev U, Haag R, Küchler S, Schäfer-Korting M
J Control Release 2014 Jul 10;185:45-50. Epub 2014 Apr 13 doi: 10.1016/j.jconrel.2014.04.006. PMID: 24727058
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

Sawan ZA, Almehaidib A, Binamer Y, Monies D, Alsaleem KA, Aldekhail W, Alkuraya FS, Abanemai M
Clin Genet 2021 Apr;99(4):572-576. Epub 2021 Jan 20 doi: 10.1111/cge.13919. PMID: 33410500
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
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
Mohamad J, Nanda A, Pavlovsky M, Peled A, Malchin N, Malovitski K, Pramanik R, Weissglas-Volkov D, Shomron N, McGrath J, Sprecher E, Sarig O
Exp Dermatol 2020 Aug;29(8):742-748. Epub 2020 Jul 20 doi: 10.1111/exd.14140. PMID: 32618001
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

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