Challenges in the Diagnosis and Management of Giant Porokeratosis: A Case Report

TL;DR

This case report discusses the challenges in diagnosing and managing giant porokeratosis, a rare skin condition, and highlights the importance of regular monitoring and personalized treatment.

Contribution

The paper presents a rare case of giant porokeratosis and emphasizes the need for tailored treatment and monitoring due to its high risk of malignancy.

Findings

The patient showed favorable response to topical 5-fluorouracil treatment for giant porokeratosis.

Giant porokeratosis is a high-risk variant requiring regular monitoring to detect malignant transformations.

Current treatment options have limited efficacy, highlighting the need for improved diagnostic and therapeutic approaches.

Abstract

Porokeratosis encompasses a diverse group of dermatoses, both acquired and genetic, marked by a keratinization disorder. Porokeratosis of Mibelli (PKM) presents as solitary plaques or multiple papules/macules with central atrophy and raised hyperkeratotic borders. Here, we present a case of giant porokeratosis (GPK), a rare form often considered a morphological variant of PKM, with unique clinical and histopathological aspects. Our case involves a 29-year-old patient with a 15 × 10 cm irregular plaque on the dorsal aspect of the right hand. The patient was previously prescribed various topical treatments (retinoids, calcineurin inhibitors, and combinations of corticosteroids with vitamin D3 analogs) and systemic retinoids without improvement before presenting to our department. Due to the high risk of neoplastic transformation and the unavailability of imiquimod, the patient was recommended topical 5-fluorouracil treatment. The trajectory of the lesion under treatment revealed a favorable evolution, and the patient was subjected to regular monitoring every three months to assess the ongoing progress. Recognizing GPK as a high-risk variant is crucial for dermatologists, and it requires a personalized approach. Regular monitoring is advised to detect potential malignant transformations promptly. Future research holds promise for diagnostic advancements, refined treatment modalities, and a deeper understanding of the molecular mechanisms underlying malignancy in porokeratosis.

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