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Peeling skin syndrome 5(PSS5)

MedGen UID:
934677
•Concept ID:
C4310710
•
Disease or Syndrome
Synonym: PSS5
 
Gene (location): SERPINB8 (18q22.1)
 
Monarch Initiative: MONDO:0014923
OMIM®: 617115

Definition

Peeling skin syndrome-5 (PSS5) is characterized by superficial peeling of the dorsal and palmar skin of the hands and feet; the skin of the forearms and legs may also be involved. Some patients exhibit diffuse yellowish hyperkeratotic palmoplantar plaques (Pigors et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 (270300). [from OMIM]

Clinical features

From HPO
Epidermal acanthosis
MedGen UID:
65136
•Concept ID:
C0221270
•
Finding
Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Hyperkeratosis
MedGen UID:
209030
•Concept ID:
C0870082
•
Disease or Syndrome
Hyperkeratosis is thickening of the epidermis involving the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

A novel homozygous nonsense mutation in CAST associated with PLACK syndrome.
Temel ŞG, Karakaş B, Şeker Ü, Turkgenç B, Zorlu Ö, Sarıcaoğlu H, Oğur Ç, Kütük Ö, Kelsell DP, Yakıcıer MC
Cell Tissue Res 2019 Nov;378(2):267-277. Epub 2019 Aug 7 doi: 10.1007/s00441-019-03077-9. PMID: 31392520
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
A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome.
Cassidy AJ, van Steensel MA, Steijlen PM, van Geel M, van der Velden J, Morley SM, Terrinoni A, Melino G, Candi E, McLean WH
Am J Hum Genet 2005 Dec;77(6):909-17. Epub 2005 Oct 11 doi: 10.1086/497707. PMID: 16380904Free PMC Article
Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5.
Geyer AS, Ratajczak P, Pol-Rodriguez M, Millar WS, Garzon M, Richard G
Dermatology 2005;210(4):308-14. doi: 10.1159/000084755. PMID: 15942217
A new variant of autosomal recessive exfoliative ichthyosis.
Zvulunov A, Cagnano E, Kachko L, Shorer Z, Elbedour K, Stevens H
Pediatr Dermatol 2002 Sep-Oct;19(5):382-7. doi: 10.1046/j.1525-1470.2002.00111.x. PMID: 12383092

Diagnosis

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
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
Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations.
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
Peeling skin syndrome in eight cases of four different families from India and Bangladesh.
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
Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5.
Geyer AS, Ratajczak P, Pol-Rodriguez M, Millar WS, Garzon M, Richard G
Dermatology 2005;210(4):308-14. doi: 10.1159/000084755. PMID: 15942217

Therapy

A new variant of autosomal recessive exfoliative ichthyosis.
Zvulunov A, Cagnano E, Kachko L, Shorer Z, Elbedour K, Stevens H
Pediatr Dermatol 2002 Sep-Oct;19(5):382-7. doi: 10.1046/j.1525-1470.2002.00111.x. PMID: 12383092

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
Hypercalciuria in a child with acral peeling skin syndrome: a case report.
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
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 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
Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5.
Geyer AS, Ratajczak P, Pol-Rodriguez M, Millar WS, Garzon M, Richard G
Dermatology 2005;210(4):308-14. doi: 10.1159/000084755. PMID: 15942217

Clinical prediction guides

Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis.
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
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
Inflammatory peeling skin syndrome studied with electron microscopy.
Tsai K, Valente NY, Nico MM
Pediatr Dermatol 2006 Sep-Oct;23(5):488-92. doi: 10.1111/j.1525-1470.2006.00290.x. PMID: 17014649

Supplemental Content

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    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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