Porokeratoses-A Comprehensive Review on the Genetics and Metabolomics, Imaging Methods and Management of Common Clinical Variants

• Published in: Metabolites Vol. 13; no. 12; p. 1176
• Main Authors: Pietkiewicz, Paweł, Korecka, Katarzyna, Salwowska, Natalia, Kohut, Ihor, Adhikari, Adarsha, Bowszyc-Dmochowska, Monika, Pogorzelska-Antkowiak, Anna, Navarrete-Dechent, Cristian
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 26-11-2023
• Subjects: Biopsy; Care and treatment; Case reports; Cholesterol; Confocal microscopy; Dermatitis; dermatoscopy; Diagnostic imaging; Drug delivery; Epidemiology; Genes; Genetic aspects; Genetics; Histopathology; HIV; Human immunodeficiency virus; Medical research; Medicine, Experimental; Metabolomics; Methods; Mevalonate pathway; mevalonate–isoprenoid pathway; Microscopy; Mutation; Physiological aspects; porokeratosis; Psoriasis; reflectance confocal microscopy; Skin diseases; ultraviolet radiation; Poland; dermatoscopy; porokeratosis; reflectance confocal microscopy; ultraviolet radiation; treatment; genetics; malignancy; mevalonate–isoprenoid pathway
• ISSN: 2218-1989; 2218-1989
• DOI: 10.3390/metabo13121176

Porokeratosis is a heterogeneous group of keratinising disorders characterised by the presence of particular microscopic structural changes, namely the presence of the cornoid lamella. This structure develops as a consequence of a defective isoprenoid pathway, critical for cholesterol synthesis. Commonly recognised variants include disseminated superficial actinic porokeratosis, disseminated superficial porokeratosis, porokeratosis of Mibelli, palmoplantar porokeratosis (including porokeratosis palmaris et plantaris disseminata and punctate porokeratosis), linear porokeratosis, verrucous porokeratosis (also known as genitogluteal porokeratosis), follicular porokeratosis and porokeratoma. Apart from the clinical presentation and epidemiology of each variant listed, this review aims at providing up-to-date information on the precise genetic background, introduces imaging methods facilitating the diagnosis (conventional and ultraviolet-induced fluorescence dermatoscopy, reflectance confocal microscopy and pathology), discusses their oncogenic potential and reviews the literature data on the efficacy of the treatment used, including the drugs directly targeting the isoprenoid-mevalonate pathway.