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. 2023 Feb;37(2):420-427.
doi: 10.1111/jdv.18587. Epub 2022 Oct 1.

Porokeratosis is one of the most common genodermatoses and is associated with an increased risk of keratinocyte cancer and melanoma

Rahime Inci  1   2 , Theofanis Zagoras  3 , Despoina Kantere  1   2 , Peter Holmström  1   2 , Martin Gillstedt  1   2 , Sam Polesie  1   2 , Sirkku Peltonen  1   2
Affiliations

Porokeratosis is one of the most common genodermatoses and is associated with an increased risk of keratinocyte cancer and melanoma

Rahime Inci et al. J Eur Acad Dermatol Venereol. 2023 Feb.

Abstract

Background: Porokeratosis is a clinically heterogeneous group of keratinization disorders with a genetic background mainly affecting the mevalonate pathway, which is involved in the synthesis of cholesterol, an essential component for the formation of the extracellular lipid lamellae in the stratum corneum. Porokeratosis is reportedly associated with an increased risk of keratinocyte cancer, but to date, no large epidemiological studies have been conducted to further address this association.

Objectives: The first objective was to characterize a cohort of patients diagnosed with porokeratosis at the Department of Dermatology and Venereology, Sahlgrenska University Hospital (SU), Gothenburg, Sweden. The second objective was to conduct a nationwide registry-based cohort study to investigate the association, if any, between porokeratosis and the cutaneous malignancies squamous cell carcinoma (SCC), basal cell carcinoma (BCC) and melanoma.

Methods: For the SU cohort, the hospital registry was searched for patients with a diagnosis of porokeratosis recorded between 2016 and 2020. Clinical data were extracted from the records of the identified patients. For the nationwide cohort, national registries were searched to identify patients with a diagnosis of porokeratosis between 2001 and 2020. A tenfold control cohort was formed by Statistics Sweden. The data was cross-referenced with the Swedish Cancer Register to study the associations between porokeratosis and SCC, BCC and melanoma.

Results: Disseminated superficial actinic porokeratosis was the most common clinical type among the 108 patients in the SU cohort. In the nationwide search, 2277 patients with porokeratosis were identified (prevalence 1/4132). Porokeratosis was associated with an increased risk for SCC, BCC and melanoma with hazard ratios (95% CI) of 4.3 (3.4-5.4), 2.42 (1.97-2.98) and 1.83 (1.18-2.82), respectively, in the patient cohort, compared to the matched control group.

Conclusion: Porokeratosis is a common genodermatosis, and it is associated with an enhanced risk of skin cancer.

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Conflict of interest statement

None reported.

Figures

FIGURE 1
FIGURE 1
Clinical characteristics of various types of porokeratosis. (a) a typical round porokeratosis lesion with a thicker keratinized rim (cornoid lamella) at the margin of the lesion on sun‐damaged skin. (b) Dermoscopic image of porokeratosis with a keratinzed rim. (c) a giant porokeratosis of Mibelli on the leg of patient: A reddish scaly, atrophic patch surrounded by a well‐defined ridge‐like border. (d) Disseminated superficial actinic porokeratosis (DSAP) lesions with multiple reddish brown, scaly spots on the extremities. (e) Female aged 31 years with unilateral linear porokeratosis since childhood. Lesions on her left leg before CO₂ laser treatment. (f) Same patient after CO₂ laser treatment.
FIGURE 2
FIGURE 2
Diagnostic methods to form the local porokeratosis patient cohort in the Sahlgrenska University Hospital, Gothenburg, in 2016–2020.
FIGURE 3
FIGURE 3
Kaplan–Meier curves showing cases of BCC (a), cSCC (b), both cSCC and BCC (c), or melanoma (d). Patients with porokeratosis are marked in blue and control persons in red line.
See this image and copyright information in PMC

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