Abstract
Porokeratoses constitute a group of rare, clinically and genetically heterogeneous dermatoses characterized by abnormalities in epidermal keratinization due to pathogenic variants in genes involved in the mevalonate metabolic pathway. Treatment of porokeratosis has long been based on ablative procedures and various topical and systemic therapies, which have demonstrated very limited efficacy. The discovery of the metabolic pathway involved in the pathogenesis paved the way for a new class of topical agents, including a combination of statins and cholesterol, which demonstrate better results compared to previous treatment options.
We describe a case of a rare linear form of porokeratosis in an adolescent presenting with multiple brown maculopapular lesions measuring 1 to 8 mm in diameter and having a specific structure: mild central atrophy and areas of peripheral hyperkeratosis. The diagnosis was verified histologically and by identifying a pathogenic nucleotide sequence variant at the splice site of intron 1 within the MVD gene (c.70+5GA). The disease therapy with a topical agent based on a combination of a statin and cholesterol was effective.
The described clinical case is of considerable value in the context of the differential diagnosis of linear skin lesions, as well as diseases accompanied by impaired keratinization.