Porokeratosis on the lip: A Case Series.

Porokeratosis is a skin condition that involves the formation of plaques, characterized by a hyperkeratotic ridge with an atrophic center. There is a histological presence of a cornoid lamella, which is a parakeratotic column that traverses through the stratum corneum. The plaques are mostly benign but have the potential to become squamous cell carcinomas if left untreated. Porokeratosis lesions typically occur on the extremities, but they can develop anywhere. The occurrence of porokeratosis on the lip is exceedingly rare. We report three cases of porokeratosis on the lip. Each incidence was treated with cryotherapy, which was unsuccessful in two. One of these two patients did not elect for topical treatment and is being monitored for lesion changes. The second patient was successfully treated via shave biopsy. The third patient was lost to follow-up post-cryotherapy.

Mosaic GJB2 mutations in widespread porokeratotic adnexal ostial nevus: Report of two patients.

Porokeratotic adnexal ostial nevus (PAON) is a rare adnexal hamartoma characterized by keratotic papules following Blaschko's lines, typically located on the unilateral distal extremities. Cutaneous somatic GJB2 mutations have been linked to the pathogenesis of PAON. However, the genetic mechanism underlying bilateral or extended forms, which are less documented, remains unknown. In this study, we presented two cases of PAON with widespread cutaneous lesions and scalp involvement, and demonstrated the presence of GJB2 mosaic mutations in both patients. We further investigated the mosaic frequency in different tissues to gain insights into the mutation events contributing to the phenotype of widespread PAON. Our findings suggest that early postzygotic mutation causing mosaic GJB2 mutations may contribute to the widespread phenotype of PAON, thereby enriching the disease spectrum and mutation profile of PAON.

Efficacy of Topical Cholesterol and Statin Combination Therapy in the Treatment of Porokeratosis: A Systematic Review and Meta-Analysis.

BACKGROUND: Porokeratosis is a group of disorders characterized by aberrant skin keratinization secondary to genetic alterations in the mevalonate pathway, which participates in cholesterol synthesis. While a rare disorder, malignant transformation to squamous cell carcinoma is seen in up to 11% of cases. Recently, topical cholesterol and topical statin therapy have been suggested as a pathogenesis-directed treatment for porokeratosis. METHODS: A PubMed/MEDLINE and Embase literature search was performed using the search terms: "porokeratosis" AND "cholesterol" OR "lovastatin" OR "simvastatin" OR "atorvastatin" OR "fluvastatin" OR "pitavastatin" OR "pravastatin" OR "rosuvastatin" OR "statin." Peer-reviewed clinical trials, case series, and case reports of all porokeratosis subtypes were included. RESULTS: Eleven articles were included in the systematic review and 9 articles in the meta-analysis. The systematic review consisted of an aggregate of 33 patients, most of whom (n=31, 93.9%) applied the treatment twice daily for an average of 9.4 weeks (median=8 weeks), with 93.9% (n=31) experiencing improvement or resolution of porokeratosis. Sixteen patients (48.5%) used lovastatin and 16 (48.5%) used simvastatin with concurrent cholesterol therapy. Mild adverse events including erythema and contact dermatitis were experienced by 12.1% of patients. Our meta-analysis yielded a random effects model supporting a robust reduction in porokeratosis severity (OR = .076, 95% CI [0.022, 0.262]). CONCLUSION: This underpowered meta-analysis provides limited, preliminary evidence supporting the efficacy of topical cholesterol/statin therapy. Overall, quality studies and aggregated sample size are limited; future large clinical trials are needed to further elucidate the role of topical cholesterol/statin therapy in the treatment of porokeratosis. J Drugs Dermatol. 2023;22(12):1160-1165. doi:10.36849/JDD.7775.

A Review of the Efficacy of Topical Statins for Treating Disseminated Superficial Actinic Porokeratosis.

Porokeratosis is a rare group of acquired or hereditary dermatoses characterized by linear or annular plaques with a keratotic border. DSAP is the most common porokeratosis, and lesions range from asymptomatic to pruritic circular pink to brown macules, papules, or plaques surrounded by a raised border. DSAP carries about 7.5-10% risk of malignant transformation to SCC or BCC. While in the past DSAP has been widely treated with topical diclofenac, ingenol mebutate, topical vitamin D analog, 5-fluorouracil, imiquimod, photodynamic therapy, retinoids, cryotherapy, and laser therapy, these therapies have shown limited efficacy and have caused adverse effects including inflammatory reactions, hyperpigmentation, pain, and erythema. Recently, a formulation of topical statin and cholesterol has surfaced as a new and promising treatment for DSAP which has shown clinical improvement with a tolerable adverse effect profile when compared to the current therapies. Of the 8 case studies with a total of 20 patients with DSAP, 90% (18/20) reported clinical improvement with various forms of topical statin therapy. While promising, larger randomized controlled trials are needed to evaluate the long-term use of topical statins for DSAP. J Drugs Dermatol. 2023;22(10):     doi:10.36849/JDD.7540.

Treatment of Porokeratosis Ptychotropica With a Topical Combination of Cholesterol and Simvastatin.

This case report describes 2 patients with Ptychotropic porokeratosis who were treated with a combination of cholesterol and simvastatin.

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

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.

Porokeratosis: An enigma beginning to unravel.

Porokeratosis is a keratinization disorder with unclear etiopathogenesis, varied clinical presentation and characteristic histopathology, and is usually unresponsive to current therapeutic options. Until now, it was considered to be a clonal disorder with immunity, ultra violet radiation and other factors playing important roles in etiopathogenesis. It is now known that abnormalities in the mevalonate pathway are responsible for this clonal keratinization abnormality. New variants of porokeratosis like eruptive bullous, pruriginous, lichen planus like, follicular variants and porokeratoma have been described. While the cornoid lamella is the classical histopathologic feature, dermoscopy and reflectance confocal microscopy make the diagnosis clearer. Development of malignancy in a few variants is a concern. Linear, disseminated superficial actinic and giant lesions are most prone to developing malignancies. Bowen's disease, squamous cell carcinoma, basal cell carcinoma and even melanoma have been reported in cases of long-standing porokeratosis. Newer modalities of therapy such as photodynamic therapy, ingenol mebutate and HMGCoA inhibitors may play a role in the future.

[CME Dermatology 24/Answers: Porokeratosis]. / CME-Dermatologie 24/ Antworten: Porokeratose.

CME Dermatology 24/Answers: Porokeratosis Abstract. Porokeratoses are a heterogeneous group of cornification disorders with the characteristic histological feature of the cornoid lamellae in the area of the marginal ridge. It is a rare but characteristic disease that occurs primarily in adulthood. Men are slightly more likely to be affected. The etiopathogenesis that leads to the transformation of the keratinocytes remains unclear; associations with genetic mutations and trigger factors such as UV rays and immunosuppression were observed. Due to the risk of malignant degeneration, consistent sun protection and regular clinical controls should take place. Cryotherapy, ablative laser therapy, curettage, photodynamic therapy or topical application of fluorouracil (5-FU), imiquimod and retinoids can be used to treat itchy, painful or cosmetically disturbing porokeratoses, depending on the location and severity.

[CME Dermatology 24: Porokeratosis]. / CME-Dermatologie 24: Porokeratose CME-Fragen.

CME Dermatology 24: Porokeratosis Abstract. Porokeratoses are a heterogeneous group of cornification disorders with the characteristic histological feature of the cornoid lamellae in the area of the marginal ridge. It is a rare but characteristic disease that occurs primarily in adulthood. Men are slightly more likely to be affected. The etiopathogenesis that leads to the transformation of the keratinocytes remains unclear; associations with genetic mutations and trigger factors such as UV rays and immunosuppression were observed. Due to the risk of malignant degeneration, consistent sun protection and regular clinical controls should take place. Cryotherapy, ablative laser therapy, curettage, photodynamic therapy or topical application of fluorouracil (5-FU), imiquimod and retinoids can be used to treat itchy, painful or cosmetically disturbing porokeratoses, depending on the location and severity.

Localized eruptive porokeratosis in pediatric patients following treatment of acute leukemia.

Porokeratosis is a rare diagnosis in the pediatric population, and eruptive disease has been documented prior in patients with history of stem cell transplantation. Comparing various porokeratosis eruptions between patients can be difficult due to limitations in current classification and nomenclature. Here, we discuss a single-institution case series of three children who developed porokeratosis following hematopoietic stem cell transplantation for acute leukemia, and we propose that this presentation be termed localized eruptive porokeratosis (LEP). We present the distinguishing features of this variant by discussing the shortcomings in current nomenclature and also examine the association between porokeratosis and hematopoietic stem cell transplantation in the pediatric population.