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Clinical and genetic differences between pustular psoriasis subtypes.
Sophie Twelves1, Alshimaa Mostafa2, Nick Dand1
1Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King's College London, London, United Kingdom.
The Journal of Allergy and Clinical Immunology
|July 24, 2018
Summary
This study reveals significant clinical and genetic distinctions between generalized pustular psoriasis (GPP) and palmoplantar pustulosis (PPP). Understanding these differences is crucial for diagnosing and treating these severe skin conditions.
Area of Science:
- Dermatology
- Genetics
- Human Physiology
Background:
- Pustular psoriasis encompasses severe skin disorders characterized by neutrophil-filled pustules.
- It presents as acute systemic (generalized pustular psoriasis [GPP]) or chronic localized (palmoplantar pustulosis [PPP], acrodermatitis continua of Hallopeau [ACH]) forms.
- Previous genotype-phenotype correlation studies were limited by disease rarity.
Purpose of the Study:
- To characterize the clinical and genetic features of pustular psoriasis.
- To analyze an extended patient cohort for comprehensive insights.
Main Methods:
- Ascertained a large dataset of 863 unrelated patients with GPP, PPP, ACH, or multiple diagnoses.
- Conducted mutation screening in 473 of these cases.
- Analyzed clinical data including psoriasis vulgaris concurrence, age of onset, sex, and smoking prevalence.
Main Results:
- Psoriasis vulgaris concurrence was significantly lower in PPP (15.8%) compared to GPP (54.4%) and ACH (46.2%).
- Generalized pustular psoriasis (GPP) showed an earlier mean age of onset (31.0 years) than PPP (43.7 years) and ACH (51.8 years).
- IL36RN mutations were less frequent in PPP (0.03) than in GPP (0.19) and ACH (0.16), with a dose-dependent effect on age of onset.
Conclusions:
- Analysis of this large patient cohort revealed key clinical and genetic differences between PPP and GPP.
- These findings enhance understanding of pustular psoriasis subtypes.
- Highlights the importance of genetic factors, particularly IL36RN mutations, in disease presentation.
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