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Acral peeling skin syndrome(APSS; PSS2)

MedGen UID:
342862
Concept ID:
C1853354
Disease or Syndrome
Synonyms: Peeling skin syndrome 2; Peeling skin syndrome, acral type (subtype)
SNOMED CT: Peeling skin syndrome, acral type (709416009); Acral peeling skin syndrome (709416009)
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): TGM5 (15q15.2)
 
Monarch Initiative: MONDO:0012345
OMIM®: 609796
Orphanet: ORPHA263534

Disease characteristics

Excerpted from the GeneReview: Epidermolysis Bullosa Simplex
Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy. [from GeneReviews]
Authors:
Jodi Y So  |  Joyce Teng   view full author information

Additional descriptions

From OMIM
Peeling skin syndrome (PSS) is an autosomal recessive genodermatosis characterized by the shedding of the outer epidermis. In an acral form of the disorder (PSS2), the dorsa of the hands and feet are predominantly affected, and ultrastructural analysis shows separation at the junction between the granular cells and the stratum corneum in the outer epidermis (summary by Cassidy et al., 2005). For a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 (270300).  http://www.omim.org/entry/609796
From MedlinePlus Genetics
Peeling skin syndrome 2 is a skin disorder characterized by painless peeling of the top layer of skin. In this form of peeling skin syndrome, the peeling is most apparent on the hands and feet. Occasionally, peeling also occurs on the arms and legs. The peeling usually starts soon after birth, although the condition can also begin in childhood or later in life. 

Skin peeling is made worse by exposure to heat, humidity and other forms of moisture, and friction. The underlying skin may be temporarily red and itchy, but it typically heals without scarring. Peeling skin syndrome 2 is not associated with any other health problems.  https://medlineplus.gov/genetics/condition/peeling-skin-syndrome-2

Clinical features

From HPO
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.
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.
Abnormal nail morphology
MedGen UID:
163115
Concept ID:
C0853087
Anatomical Abnormality
Abnormal structure or appearance of the nail.
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  
  • CROGVAcral peeling skin syndrome
Follow this link to review classifications for Acral peeling skin syndrome in Orphanet.

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
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

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
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
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
Wakade O, Adams B, Shwayder T
Pediatr Dermatol 2009 May-Jun;26(3):328-30. doi: 10.1111/j.1525-1470.2009.00917.x. PMID: 19706098
Hashimoto K, Hamzavi I, Tanaka K, Shwayder T
J Am Acad Dermatol 2000 Dec;43(6):1112-9. doi: 10.1067/mjd.2000.103645. PMID: 11100033

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

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
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

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

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