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Psoriasis 15, pustular, susceptibility to(PSORS15)

MedGen UID:
863672
Concept ID:
C4015235
Finding
Synonym: PSORS15
 
Gene (location): AP1S3 (2q36.1)
 
Monarch Initiative: MONDO:0014494
OMIM®: 616106

Definition

While many affected individuals have features only of GPP (called GPP alone), some develop features of another skin condition called psoriasis vulgaris (PV), either before or after GPP appears. PV, the most common form of psoriasis, is characterized by red, scaly patches of skin (plaques) on parts of the body.

Generalized pustular psoriasis (GPP) is a severe form of a skin disorder called psoriasis. GPP and other forms of psoriasis are caused by abnormal inflammation. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). However, when inflammation is abnormal and uncontrolled, it can damage the body's tissues and organs. Individuals with GPP have repeated episodes in which large areas of skin become red and inflamed and develop small pus-filled blisters (pustules). The skin problems can be accompanied by fever, extreme tiredness (fatigue), muscle weakness, an increased number of white blood cells, and other signs of inflammation throughout the body (systemic inflammation). The inflammation problems subside and reappear often. Episodes can be triggered by infection, exposure to or withdrawal from certain medications, menstruation, or pregnancy, although the trigger is often unknown. GPP can be life-threatening if not treated. [from MedlinePlus Genetics]

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).
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.

Recent clinical studies

Etiology

Cardili RN, Deghaide NS, Mendes-Junior CT, Donadi EA, Souza CS
Int J Dermatol 2016 Jan;55(1):e16-22. Epub 2015 Oct 15 doi: 10.1111/ijd.12894. PMID: 26470763

Prognosis

Cardili RN, Deghaide NS, Mendes-Junior CT, Donadi EA, Souza CS
Int J Dermatol 2016 Jan;55(1):e16-22. Epub 2015 Oct 15 doi: 10.1111/ijd.12894. PMID: 26470763

Clinical prediction guides

Mössner R, Wilsmann-Theis D, Oji V, Gkogkolou P, Löhr S, Schulz P, Körber A, Prinz JC, Renner R, Schäkel K, Vogelsang L, Peters KP, Philipp S, Reich K, Ständer H, Jacobi A, Weyergraf A, Kingo K, Kõks S, Gerdes S, Steinz K, Schill T, Griewank KG, Müller M, Frey S, Ebertsch L, Uebe S, Sticherling M, Sticht H, Hüffmeier U
Br J Dermatol 2018 Mar;178(3):740-748. Epub 2018 Jan 22 doi: 10.1111/bjd.15867. PMID: 28887889
Cardili RN, Deghaide NS, Mendes-Junior CT, Donadi EA, Souza CS
Int J Dermatol 2016 Jan;55(1):e16-22. Epub 2015 Oct 15 doi: 10.1111/ijd.12894. PMID: 26470763

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