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JAAD Case Reports Sep 2023
PubMed: 37693926
DOI: 10.1016/j.jdcr.2023.06.043 -
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 -
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 -
Actas Dermo-sifiliograficas Apr 2024
Topics: Humans; Porokeratosis; Biopsy
PubMed: 37150245
DOI: 10.1016/j.ad.2022.07.037 -
Journal of Yeungnam Medical Science Oct 2023Porokeratosis ptychotropica is an uncommon form of porokeratosis, which was initially described in 1995. It is clinically characterized by symmetrical reddish to...
Porokeratosis ptychotropica is an uncommon form of porokeratosis, which was initially described in 1995. It is clinically characterized by symmetrical reddish to brown-colored hyperkeratotic, verrucous, or psoriasiform plaques on the perianal and gluteal regions. The lesions tend to integrate and expand centrally, with small peripheral satellite lesions. Early skin biopsy and appropriate diagnosis are essential because malignant change occurs in 7.5% of porokeratotic lesions. Conventional treatment options include topical steroid, retinoid, imiquimod, 5-fluorouracil, isotretinoin, excimer laser, photodynamic therapy, intralesional steroid or bleomycin injection, cryotherapy, carbon dioxide (CO2) laser, and dermatome and excision, but none seem to achieve complete clearance. A 68-year-old woman presented with diffuse hyperkeratotic scaly lichenoid plaques on the buttocks that had persisted for several years. A skin biopsy of the buttocks revealed multiple cornoid lamellae and intense hyperkeratosis. There were some dyskeratotic cells beneath the cornoid lamellae and the granular layer was absent. Porokeratosis ptychotropica was diagnosed based on the characteristic clinical appearance and typical histopathological manifestations. She was treated with a CO2 laser in one session and topical application of urea and imiquimod cream for 1 month. The lesions slightly improved at the 1-month follow-up. We herein present a rare case of porokeratosis ptychotropica.
PubMed: 36464945
DOI: 10.12701/jyms.2022.00549 -
Actas Dermo-sifiliograficas Feb 2024
Review
Topics: Male; Humans; Porokeratosis; Scrotum; Buttocks
PubMed: 36423675
DOI: 10.1016/j.ad.2022.06.023