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Cureus Aug 2023Linear porokeratosis is a rare skin disorder that presents along dermatomal or Blashko lines. While the mechanism of linear porokeratosis formation is unknown, both...
Linear porokeratosis is a rare skin disorder that presents along dermatomal or Blashko lines. While the mechanism of linear porokeratosis formation is unknown, both disrupted cholesterol synthesis and mevalonate accumulation have been proposed as possible theories. There is a small chance of transforming into cutaneous malignancies, most commonly squamous cell carcinomas. The patient is a 61-year-old male with an unusual presentation of bilateral linear porokeratosis. His condition provided a unique opportunity to compare the efficacy of topical treatments in a single individual. A previous trial had successfully cleared the porokeratosis plaques with topical cholesterol 2%/lovastatin 2% on the patient's right arm. After a 12-week trial of topical lovastatin 2% monotherapy on the left arm, our current study demonstrated a comparable reduction of porokeratosis lesions. In our PubMed search, there has been a single reported case of disseminated superficial actinic porokeratosis successfully treated with topical lovastatin 2% monotherapy, but there have not been any reported cases of linear porokeratosis treated with this therapy. While topical lovastatin monotherapy for porokeratosis subvariants requires further studies, this case demonstrates similar efficacy of treating linear porokeratosis with topical lovastatin compared to cholesterol/lovastatin dual therapy. These findings support the theory of mevalonate accumulation as a more likely cause of linear porokeratosis compared to disruption of cholesterol synthesis.
PubMed: 37719543
DOI: 10.7759/cureus.43657 -
JAAD Case Reports Sep 2023
PubMed: 37693926
DOI: 10.1016/j.jdcr.2023.06.043 -
Archives of Dermatological Research Dec 2023
Topics: Humans; Porokeratosis; Retrospective Studies; Biopsy; Diagnosis, Differential
PubMed: 37642699
DOI: 10.1007/s00403-023-02694-3 -
Acta Dermato-venereologica Aug 2023This retrospective registry-based cohort study aimed to estimate the incidence and prevalence of genodermatoses in the Swedish population and to analyse associated...
This retrospective registry-based cohort study aimed to estimate the incidence and prevalence of genodermatoses in the Swedish population and to analyse associated healthcare usage. Patients diagnosed with genodermatoses were identified from the patient registry of Sahlgrenska University Hospital (Gothenburg, Sweden) between 2016 and 2020. Clinical data from medical records were used to verify diagnoses recorded in the National Patient Registry (NPR). The NPR was then searched for International Classification of Diseases, Tenth Revision (ICD-10) codes Q80-82 and Q84 from 2001 to 2020. The local cohort included 298 patients with 36 unique genodermatosis diagnoses. Verification of these diagnoses in the NPR showed positive predictive values of over 90%. The NPR search yielded 13,318 patients with 73 unique diagnoses, including ichthyoses (n = 3,341; 25%), porokeratosis (n = 2,277; 17%), palmoplantar keratodermas (n = 1,754; 13%), the epidermolysis bullosa group (n = 1011; 7%); Darier disease (n = 770; 6%), Hailey-Hailey disease (n = 477; 4%) and Gorlin syndrome (n = 402; 3%). The incidence and prevalence of each diagnosis were calculated based on the nationwide cohort and are reported. A total of 149,538 outpatient visits were registered, a mean of 4.6 visits per patient. This study provides a valuable resource for the epidemiology of genodermatoses by reporting on the incidence and prevalence of 73 different genodermatoses.
Topics: Humans; Incidence; Prevalence; Sweden; Cohort Studies; Retrospective Studies
PubMed: 37615526
DOI: 10.2340/actadv.v103.12404 -
Clinical, Cosmetic and Investigational... 2023Eruptive pruritic papular porokeratosis (EPPP) is a subtype of porokeratosis (PK). EPPP is characterized by intense itching and challenging to treat in some cases....
Eruptive pruritic papular porokeratosis (EPPP) is a subtype of porokeratosis (PK). EPPP is characterized by intense itching and challenging to treat in some cases. Herein, for the first time, a case of successful relief of EPPP treated with abrocitinib was reported. A 75-year-old male with a 60-year history of PK suddenly experienced severe itching in the past 6 months. The patient's use of antihistamines, prednisone, vitamin A derivatives, vitamin D derivatives, and showed poor efficacy. Abrocitinib is a highly selective JAK1 inhibitor, and JAK1 appears to play a crucial role in pruritic diseases. Abrocitinib can quickly relieve itching within 24 hours. Before abrocitinib treatment, the visual analog scale (VAS) score was 10, the 12-item pruritus severity scale (12-PSS) score was 19, and the dermatology life quality index (DLQI) score was 18. Abrocitinib (100 mg) was taken orally once a day. After 1 month of oral administration of abrocitinib, the skin lesions gradually subsided, pruritus was relieved, and no adverse side effects occurred. The VAS, 12-PSS, and DLQI scores of the patient decreased to 2, 3, and 4, respectively. This report suggests a potential therapeutic benefit of abrocitinib in managing EPPP. However further investigations with larger sample sizes and controlled studies are necessary to validate its efficacy as a clinical therapy.
PubMed: 37601417
DOI: 10.2147/CCID.S424310 -
Frontiers in Oncology 2023Lynch syndrome (LS)-associated glioblastoma (GBM) is rare in clinical practice, and simultaneous occurrence with cutaneous porokeratosis is even rarer. In this study, we...
BACKGROUND
Lynch syndrome (LS)-associated glioblastoma (GBM) is rare in clinical practice, and simultaneous occurrence with cutaneous porokeratosis is even rarer. In this study, we analyzed the clinicopathological and genetic characteristics of LS-associated GBMs and concurrent porokeratosis, as well as evaluated the tumor immune microenvironment (TIME) of LS-associated GBMs.
METHODS
Immunohistochemical staining was used to confirm the histopathological diagnosis, assess MMR and PD-1/PD-L1 status, and identify immune cell subsets. FISH was used to detect amplification of EGFR and PDGFRA, and deletion of 1p/19q and CDKN2A. Targeted NGS assay analyzed somatic variants, MSI, and TMB status, while whole-exome sequencing and Sanger sequencing were carried out to analyze the germline mutations.
RESULTS
In the LS family, three members (I:1, II:1 and II:4) were affected by GBM. GBMs with loss of MSH2 and MSH6 expression displayed giant and multinucleated bizarre cells, along with mutations in , , , and genes. All GBMs had TMB-H but not MSI-H. CD8+ T cells and CD163+ macrophages were abundant in each GBM tissue. The primary and recurrent GBMs of II:1 showed mesenchymal characteristics with high PD-L1 expression. The family members harbored a novel heterozygous germline mutation in and genes, confirming the diagnosis of LS and disseminated superficial actinic porokeratosis.
CONCLUSION
LS-associated GBM exhibits heterogeneity in clinicopathologic and molecular genetic features, as well as a suppressive TIME. The presence of MMR deficiency and TMB-H may serve as predictive factors for the response to immune checkpoint inhibitor therapy in GBMs. The identification of LS-associated GBM can provide significant benefits to both patients and their family members, including accurate diagnosis, genetic counseling, and appropriate screening or surveillance protocols. Our study serves as a reminder to clinicians and pathologists to consider the possibility of concurrent genetic syndromes in individuals or families.
PubMed: 37529690
DOI: 10.3389/fonc.2023.1194232 -
Indian Dermatology Online Journal 2023
PubMed: 37521240
DOI: 10.4103/idoj.idoj_408_22 -
Cureus Jun 2023Disseminated superficial actinic porokeratosis (DSAP) is a disorder of abnormal keratinization for which there is no standard treatment. Treatment modalities that have...
Disseminated superficial actinic porokeratosis (DSAP) is a disorder of abnormal keratinization for which there is no standard treatment. Treatment modalities that have traditionally been utilized with varying success include ablative therapies, topical pharmacologic treatments, surgical excision, and retinoids. The underlying pathophysiology of DSAP is secondary to genetic mutations in the mevalonate biosynthesis pathway, and thus topical lovastatin/cholesterol presents a promising treatment modality for this condition. We present a case of familial DSAP successfully treated with topical lovastatin/cholesterol gel and provide a brief review of the existing literature surrounding this novel therapy.
PubMed: 37469822
DOI: 10.7759/cureus.40582 -
Clinical, Cosmetic and Investigational... 2023Eruptive pruritic papular porokeratosis (EPPP) is a rare subtype of porokeratosis that presents as an acute exacerbation of an annular papule with a distinct peripheral...
Eruptive pruritic papular porokeratosis (EPPP) is a rare subtype of porokeratosis that presents as an acute exacerbation of an annular papule with a distinct peripheral hyperkeratotic ridge border and severe pruritus. EPPP is mainly reported in elderly East Asian men. Its etiology and pathogenesis are unknown. We hereby present a case report of EPPP in a 68-year-old Chinese male with persistent circumscribed papules on the extremities, accompanied by severe pruritus for one year. After the patient was given conventional medication, a new rash appeared on the patient's extremities and he felt intense itching in the area of the rash. The patient was switched to oral tofacitinib treatment. The patient felt that the pruritus had largely disappeared after one month of oral dosing, leaving only brown pigmentation on the erythema of the extremities. The patient has been off the drug for 2 months. There was no pruritus or new rash during the follow-up period.
PubMed: 37435395
DOI: 10.2147/CCID.S412495 -
The British Journal of Dermatology Oct 2023
Topics: Humans; Porokeratosis; Interleukin-17
PubMed: 37406221
DOI: 10.1093/bjd/ljad223