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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
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM
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): CSTA (3q21.1)
 
OMIM®: 607936

Clinical features

From HPO
Palmoplantar keratoderma
MedGen UID:
1635750
Concept ID:
C4551675
Disease or Syndrome
A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis.
Ichthyosis
MedGen UID:
7002
Concept ID:
C0020757
Disease or Syndrome
A group of inherited or acquired skin disorders characterized by a dry, thickened, and scaly skin. The skin changes range from mild to severe.
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
Shedding of the outer layer of skin or mucosal tissue.
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
Palmoplantar keratoderma
MedGen UID:
1635750
Concept ID:
C4551675
Disease or Syndrome
A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis.

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
Muttardi K, Nitoiu D, Kelsell DP, O'Toole EA, Batta K
Clin Exp Dermatol 2016 Jun;41(4):394-8. Epub 2015 Dec 18 doi: 10.1111/ced.12777. PMID: 26684698
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
Janin A, Copin MC, Dubos JP, Rouland V, Delaporte E, Blanchet-Bardon C
Arch Pathol Lab Med 1996 Jul;120(7):662-5. PMID: 8757472

Diagnosis

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
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
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
Inamadar AC, Palit A
Pediatr Dermatol 2005 Jul-Aug;22(4):314-6. doi: 10.1111/j.1525-1470.2005.22406.x. PMID: 16060866

Prognosis

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
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
Samuelov L, Sprecher E
J Allergy Clin Immunol 2014 Oct;134(4):808-15. doi: 10.1016/j.jaci.2014.07.061. PMID: 25282561
Janin A, Copin MC, Dubos JP, Rouland V, Delaporte E, Blanchet-Bardon C
Arch Pathol Lab Med 1996 Jul;120(7):662-5. PMID: 8757472

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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