-
The Journal of Clinical and Aesthetic... Apr 2023No known studies have attempted to describe the pathophysiological relationship between patients who develop both porokeratosis and hidradenitis suppurativa (HS). The...
OBJECTIVE
No known studies have attempted to describe the pathophysiological relationship between patients who develop both porokeratosis and hidradenitis suppurativa (HS). The purpose of this report is to present possible immunological mechanisms that predispose patients to developing both porokeratosis and HS.
METHODS
In this case series, patients were identified during routine clinical encounters and data was extracted from the electronic medical record from October 2010 until April 2021. This study is a single center case series including patients from the department of dermatology at the UNC School of Medicine in Chapel Hill, North Carolina. Patients were selected via digital chart review if they had simultaneous diagnoses of disseminated porokeratosis and HS. Two eligible patients were identified as actively receiving care. One patient is a Black female and the other a White male. No primary study outcomes were planned. This investigation utilized chart review to identify disease time course, which was subsequently used to elucidate study outcomes.
RESULTS
Patient A is a 54-year-old Black female and Patient B is a 65-year-old White male. Both patients developed porokeratosis after multiple years of living with HS. Immunosuppression with adalimumab, corticosteroids, or other medications did not clearly precede porokeratosis development in either patient.
LIMITATIONS
Limitations include that this study was conducted at a single center and prevalence of patients with concomitance of both conditions is low.
CONCLUSION
In patients who demonstrate simultaneous HS and porokeratosis, activation of the innate immune system and associated IL-1 production may lead to autoinflammation and a phenotype of hyperkeratinization. Mutations in genes such as mevalonate kinase may predispose subjects to the development of porokeratoses and HS.
PubMed: 37077926
DOI: No ID Found -
Australian Journal of General Practice Nov 2019Disseminated superficial actinic porokeratosis (DSAP) is a precancerous skin condition often seen by dermatologists that is characterised by multiple annular... (Review)
Review
BACKGROUND
Disseminated superficial actinic porokeratosis (DSAP) is a precancerous skin condition often seen by dermatologists that is characterised by multiple annular hyperkeratotic lesions on sun-exposed areas. In Australia, DSAP is not a rare condition, possibly owing to Australia's high levels of sun exposure, and patients with DSAP often initially present to general practitioners (GPs). A lack of awareness about DSAP may result in misdiagnosis and inappropriate management of the condition.
OBJECTIVE
The aim of this article is to provide an overview of DSAP relevant to GPs to better facilitate diagnosis, management and referral to a dermatologist.
DISCUSSION
The underlying pathophysiological mechanism of DSAP is unknown. Although there is currently no effective standardised treatment, ongoing management is warranted, given the potential for malignant transformation. Suggested strategies include frequent full skin checks, patient education about sun protection and ablative treatment (such as cryotherapy) if indicated. Suspicious lesions require excision and histopathology.
Topics: Diagnostic Errors; Humans; Porokeratosis; Precancerous Conditions; Skin
PubMed: 31722456
DOI: 10.31128/AJGP-04-19-4914 -
Dermatology Practical & Conceptual Oct 2020
PubMed: 33150040
DOI: 10.5826/dpc.1004a112 -
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 -
The Journal of Investigative Dermatology Sep 2022Mosaicism results from postzygotic alterations during embryogenesis leading to genetically distinct populations of cells within individuals and has been historically...
Mosaicism results from postzygotic alterations during embryogenesis leading to genetically distinct populations of cells within individuals and has been historically recognized by phenotypes with visible, often patterned manifestations. Before the advent of molecular profiling assays and high-throughput sequencing, it was challenging to study mosaicism in human disease; however, the study of mosaic disorders has recently revealed unexpected and novel pathways for disease pathogenesis. In this paper, we will review the techniques for discovery of disease-causing alleles using Proteus syndrome; phakomatosis pigmentokeratotica; linear porokeratosis; and vacuoles, E1 enzyme, X-linked, autoinflammatory somatic syndrome as models. These tools represent powerful approaches for dissecting the genetic basis for human disorders.
Topics: Alleles; High-Throughput Nucleotide Sequencing; Humans; Mosaicism; Nevus, Pigmented; Proteus Syndrome; Skin Diseases, Genetic
PubMed: 35985765
DOI: 10.1016/j.jid.2022.07.001 -
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 -
Dermatology Practical & Conceptual Apr 2024
PubMed: 38810068
DOI: 10.5826/dpc.1402a111 -
Proceedings (Baylor University. Medical... Jul 2020Porokeratosis is an uncommon cutaneous condition with multiple clinical variants that is defined by round patches with a raised, fine scaling border. Punctate...
Porokeratosis is an uncommon cutaneous condition with multiple clinical variants that is defined by round patches with a raised, fine scaling border. Punctate porokeratosis is a rare variant of porokeratosis that is characterized by elevated, seed-like lesions of the palms and soles. While variants of porokeratosis may be associated with an increased risk of squamous cell carcinoma within the lesion, punctate porokeratosis does not increase the risk of squamous cell carcinoma. However, punctate porokeratosis may mimic other dermatoses affecting the palms and soles including spiny keratoderma, arsenical keratosis, and nevus comedonicus. Distinguishing punctate porokeratosis and spiny keratoderma is important, as spiny keratoderma may be associated with underlying solid organ malignancy or chronic medical conditions, including chronic kidney disease. Here, we present a case of punctate porokeratosis mimicking spiny keratoderma in order to distinguish the two conditions and aid in their differentiation from other dermatologic conditions involving the palms and soles.
PubMed: 32675969
DOI: 10.1080/08998280.2020.1755212 -
Frontiers in Pharmacology 2022Photodynamic therapy (PDT) is a photochemotherapy based on local application of a photosensitive compound and subsequent exposure to a light source of adequate... (Review)
Review
Photodynamic therapy (PDT) is a photochemotherapy based on local application of a photosensitive compound and subsequent exposure to a light source of adequate wavelength. It is a non-invasive therapeutic procedure widely used in oncodermatology for treatment of numerous skin cancers, but in the last years its use has been gradually extended to an increasing list of skin diseases of both infectious and inflammatory nature. Although PDT is proven as a safe and effective therapeutic option in adults, its use is not well standardized in the pediatric population. In this review, we will focus on clinical applications, mechanisms of action, protocols, and adverse events in children and adolescents. Most of pediatric experiences concerned treatment of skin cancers in Gorlin syndrome and xeroderma pigmentosum, acne vulgaris, and viral warts, but other applications emerged, such as cutaneous lymphoma and pseudo-lymphomas, necrobiosis lipoidica, hidradenitis suppurativa, dissecting cellulitis, leishmaniasis, angiofibromas, verrucous epidermal nevus, and linear porokeratosis. In these pediatric diseases, PDT appeared as an effective therapeutic alternative. The results on vitiligo were limited and not fully encouraging. Although highly versatile, PDT is not a therapy for all skin diseases, and a deeper knowledge of its mechanisms of action is required to better define its spectrum of action and safety in pediatric patients.
PubMed: 36052131
DOI: 10.3389/fphar.2022.879380 -
Journal of the European Academy of... Feb 2023Porokeratosis is a clinically heterogeneous group of keratinization disorders with a genetic background mainly affecting the mevalonate pathway, which is involved in the...
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.
Topics: Humans; Porokeratosis; Cohort Studies; Melanoma; Skin Neoplasms; Carcinoma, Basal Cell; Carcinoma, Squamous Cell; Keratinocytes
PubMed: 36152004
DOI: 10.1111/jdv.18587