Cracking the Code: Understanding and Diagnosing Pustular Psoriasis through Genetic Testing

Expert Reviewed By: ⁠Dr. Brandon Colby MD

Psoriasis is a chronic autoimmune skin disorder that affects millions of people worldwide. It is characterized by patches of abnormal skin, which can be red, itchy, and scaly. While there are various forms of psoriasis, this article will focus on a specific type called pustular psoriasis, particularly the subtype known as Psoriasis 2, pustular.

Recent studies have shed light on the genetic basis of this disease, highlighting the importance of understanding, diagnosing, and utilizing genetic testing for pustular psoriasis. This article will discuss the distinct characteristics of generalized pustular psoriasis (GPP) and pustular psoriasis of pregnancy (PPP), as well as the role of genetic testing in diagnosis and management.

Generalized Pustular Psoriasis: A Distinct Entity

Generalized pustular psoriasis (GPP) is a severe, often life-threatening form of psoriasis characterized by widespread pustules and systemic symptoms. It is distinct from psoriasis vulgaris (PV), the most common form of psoriasis, due to differences in genetic causes, disease development mechanisms, and treatment approaches [1].

Pustular Psoriasis of Pregnancy: Unique Challenges and Complications

Pustular psoriasis of pregnancy (PPP) is a rare and potentially dangerous form of pustular psoriasis that affects pregnant women. It is characterized by phenotypic heterogeneity and can be associated with IL36RN mutations. Early onset may lead to fetal complications, with systemic steroids and cyclosporine being the most used therapies [2].

Genetic Testing: A Key to Unlocking the Mystery of Pustular Psoriasis

Genetic testing has emerged as a valuable tool in understanding the underlying causes of pustular psoriasis and guiding its diagnosis and management. The identification of specific gene mutations, such as those affecting the IL36RN gene, has provided new insights into the disease’s pathogenesis and potential treatment targets.

Identifying Novel Mutations

Recent research has identified a novel IL36RN mutation in pediatric-onset generalized pustular psoriasis, causing IL36 antagonist degradation [3]. This discovery highlights the importance of genetic testing in identifying new mutations that may contribute to the development of pustular psoriasis and pave the way for novel therapeutic approaches.

Diagnosing Pustular Psoriasis Subtypes

Genetic testing can help differentiate between various subtypes of pustular psoriasis, such as GPP and PPP. This is crucial for accurate diagnosis and appropriate treatment, as these subtypes may have different disease courses, complications, and therapeutic requirements.

Guiding Treatment Decisions

Understanding the genetic basis of pustular psoriasis can also help guide treatment decisions. For example, the identification of IL36RN mutations in PPP may inform the choice of therapy, such as systemic steroids or cyclosporine, to manage the disease during pregnancy and minimize fetal complications [2].

Personalized Medicine and Future Directions

As our understanding of the genetic basis of pustular psoriasis continues to grow, so too does the potential for personalized medicine. By identifying specific gene mutations and understanding their impact on disease development and progression, clinicians can tailor treatment plans to the unique needs of each individual patient, improving outcomes and quality of life.

In conclusion, genetic testing plays a crucial role in understanding, diagnosing, and managing pustular psoriasis. As research continues to uncover novel mutations and elucidate the complex genetic landscape of this disease, the potential for personalized medicine and targeted therapies becomes increasingly promising.

About The Expert Reviewer

Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of  and the author of ⁠⁠Outsmart Your Genes.

Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (⁠⁠ACMG), an Associate of the American College of Preventive Medicine (⁠⁠ACPM), and a member of the National Society of Genetic Counselors (⁠NSGC)