Case report: Infantile generalized pustular psoriasis with IL36RN and CARD14 gene mutations.

Author: DingYantao, LiYang, LiuShengxiu, PanYulong, SunYao, TangXianfa, TongXinyun, ZhengLiyun

Paper Details 
Original Abstract of the Article :
Infantile pustular psoriasis (IPP) is an extremely rare skin disease associated with genetic factors. Gene mutations of IL36RN (interleukin-36 receptor antagonist), CARD14 (caspase recruitment family member 14), and AP1S1 (the σ1C subunit of the adaptor protein complex 1) had been identified to be i...See full text at original site
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引用元:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9871360/

データ提供:米国国立医学図書館(NLM)

Unraveling the Mystery of Infantile Generalized Pustular Psoriasis

Infantile generalized pustular psoriasis (IPP) is a rare and challenging skin condition that primarily affects infants. This case report delves into the diagnosis and treatment of IPP in a 6-month-old infant, highlighting the role of genetic factors and the importance of personalized treatment approaches. The researchers identified coexisting mutations in the IL36RN and CARD14 genes, further confirming the genetic basis of IPP. They describe the successful treatment of the infant's lesions using traditional oral and topical medications, while carefully considering the potential side effects of commonly used acitretin. The report also touches upon the potential use of anti-IL36 biological agents, a promising new avenue for treating IPP.

Genetic Clues and Personalized Care in IPP

This case report underscores the importance of considering genetic factors in diagnosing and treating IPP. The identification of gene mutations can provide valuable insights into the underlying cause of the condition and guide treatment decisions. The report's emphasis on personalized care for this rare condition highlights the need for careful monitoring and adaptation of treatment strategies based on individual patient needs.

Hope for a Rare Skin Condition

While IPP is a challenging condition, this report offers hope for families affected by this rare disease. The successful treatment of the infant's lesions using traditional medications and the exploration of new therapeutic options, such as anti-IL36 biological agents, provide a path forward for future management. Just as a camel adapts to the harsh desert environment, researchers are constantly seeking ways to understand and treat rare diseases like IPP.

Dr. Camel's Conclusion

The world of dermatology is a vast and complex desert, with rare conditions like IPP posing unique challenges. This case report offers valuable insights into the diagnosis, treatment, and potential future directions for this condition. The journey toward better understanding and management of rare diseases continues, and this report provides a beacon of hope for families navigating the complexities of IPP.

Date :
  1. Date Completed n.d.
  2. Date Revised 2023-02-02
Further Info :

Pubmed ID

36704338

DOI: Digital Object Identifier

PMC9871360

Related Literature

SNS
PICO Info
in preparation
Languages

English

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