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Psoriasis 2(PSORS2)

MedGen UID:
351141
Concept ID:
C1864497
Disease or Syndrome
Synonym: Psoriasis susceptibility 2
 
Gene (location): CARD14 (17q25.3)
 
Monarch Initiative: MONDO:0011269
OMIM®: 602723

Definition

Any psoriasis in which the cause of the disease is a mutation in the CARD14 gene. [from MONDO]

Clinical features

From HPO
Psoriasiform dermatitis
MedGen UID:
75508
Concept ID:
C0262985
Disease or Syndrome
A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).
Parakeratosis
MedGen UID:
10572
Concept ID:
C0030436
Disease or Syndrome
Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.
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.

Professional guidelines

PubMed

Belinchón Romero I, Dauden E, Ferrándiz Foraster C, González-Cantero Á, Carrascosa Carrillo JM
Ann Med 2021 Dec;53(1):1727-1736. doi: 10.1080/07853890.2021.1986637. PMID: 34601988Free PMC Article
Senna M, Ko J, Tosti A, Edson-Heredia E, Fenske DC, Ellinwood AK, Rueda MJ, Zhu B, King B
Adv Ther 2021 Sep;38(9):4646-4658. Epub 2021 Jul 22 doi: 10.1007/s12325-021-01845-0. PMID: 34292518Free PMC Article
Ladizinski B, Lee KC, Wilmer E, Alavi A, Mistry N, Sibbald RG
Adv Skin Wound Care 2013 Jun;26(6):271-84; quiz 285-6. doi: 10.1097/01.ASW.0000429778.10020.67. PMID: 23669329

Recent clinical studies

Etiology

Plante J, Eason C, Santa Lucia G, Robinson I, Elston D
J Drugs Dermatol 2022 Oct 1;21(10):1133-1134. PMID: 36219043

Diagnosis

Plante J, Eason C, Santa Lucia G, Robinson I, Elston D
J Drugs Dermatol 2022 Oct 1;21(10):1133-1134. PMID: 36219043
Ladizinski B, Lee KC, Wilmer E, Alavi A, Mistry N, Sibbald RG
Adv Skin Wound Care 2013 Jun;26(6):271-84; quiz 285-6. doi: 10.1097/01.ASW.0000429778.10020.67. PMID: 23669329

Therapy

Plante J, Eason C, Santa Lucia G, Robinson I, Elston D
J Drugs Dermatol 2022 Oct 1;21(10):1133-1134. PMID: 36219043

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