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Peeling skin syndrome 4(PSS4)

MedGen UID:
895692
Concept ID:
C4225407
Disease or Syndrome
Synonyms: Exfoliative ichthyosis, autosomal recessive; Ichthyosis bullosa of Siemens-like; PSS4
 
Gene (location): CSTA (3q21.1)
 
Monarch Initiative: MONDO:0011937
OMIM®: 607936

Definition

Any peeling skin syndrome in which the cause of the disease is a mutation in the CSTA gene. [from MONDO]

Clinical features

From HPO
Palmoplantar keratoderma
MedGen UID:
1635750
Concept ID:
C4551675
Disease or Syndrome
Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
Ichthyosis
MedGen UID:
7002
Concept ID:
C0020757
Disease or Syndrome
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
Lichenification
MedGen UID:
452108
Concept ID:
C0023653
Pathologic Function
Thickening and hardening of the epidermis seen with exaggeration of normal skin lines.
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.
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).
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.
Hyperkeratosis
MedGen UID:
209030
Concept ID:
C0870082
Disease or Syndrome
Hyperkeratosis is thickening of 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.
Orthokeratosis
MedGen UID:
375169
Concept ID:
C1843359
Finding
Formation of an anuclear keratin layer

Recent clinical studies

Etiology

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
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

Diagnosis

Gordon H, Yap P, Hsiao KC, Watson M, Purvis D
Pediatr Dermatol 2022 Mar;39(2):268-272. Epub 2022 Feb 17 doi: 10.1111/pde.14939. PMID: 35178752Free PMC Article
Pradhan S, Sirka CS, Dash G
Skinmed 2021;19(4):305-307. Epub 2021 Aug 1 PMID: 34526207
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
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

Therapy

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

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
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

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
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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