Dermatopathology最新文献

Stratum Corneum (SC) formation in the human epidermis requires lipid processing. Lipoxygenases (LOXs) such as 12R-Lipoxygenase (12R-LOX) and Epidermis-type lipoxygenase 3 (eLOX-3) contribute to this process. Mutations in their genes cause Autosomal Recessive Congenital Ichthyosis (ARCI) in patients. On the other hand, 12S-lipoxygenase (12S-LOX) is expressed in the human epidermis, but its role still remains to be clarified. The involvement of eLOX-3, 12R, and 12S-LOX in conditions or processes such as skin photodamage, wound healing, psoriasis, and atopic dermatitis is suggested but still remains unclear. In order to eventually gain a better understanding of the role of these LOXs in such processes, models of Tissue-Engineered Skins (TESs) with an impaired expression for the native form of either eLOX-3, 12R-LOX, or 12S-LOX were produced using CRISPR-Cas9(D10A) technology. All three models showed impaired keratinocyte differentiation and changes in the prevalence or the size of lipid droplets within the most superficial layers, thus reproducing features observed in ARCI and supporting a role for 12S-LOX in SC formation. Since eLOX-3 and 12R-LOX depleted TES's reproduced features observed in ARCI, such models can be considered as reliable tools for the functional studies of these LOXs in the human epidermis.

Introduction: Mycosis fungoides (MF) is the most common cutaneous T-cell lymphoma, often exhibiting loss of pan-T-cell markers such as CD2, CD3, CD5, and CD7. While these immunophenotypic alterations assist in diagnosis, their prognostic relevance in early-stage MF remains uncertain. This study aimed to determine whether immunohistochemical loss of T-cell markers CD2, CD3, CD5, and CD7 in patients with early-stage mycosis fungoides is associated with overall survival and progression-free survival.

Methods: This retrospective included 83 patients with stage IA-IIA MF diagnosed between 2003 and 2012 at a single institution. Immunohistochemical staining of archived biopsy specimens was performed for CD2, CD3, CD5, and CD7. Loss of marker expression was defined as absence in ≥30% of lymphocytes. Clinical and histopathological data were correlated with survival and progression outcomes using Kaplan-Meier curves and log-rank tests.

Results: Loss of at least one T-cell marker was identified in 66% of patients, most commonly CD7 (72%), followed by CD5 (11%) and CD2 (11%). No cases showed loss of CD3 expression. CD7 loss was significantly associated with shorter progression-free survival (p < 0.05), but not with overall survival. No significant associations were found between CD2 or CD5 loss and either survival or disease progression.

Conclusions: CD7 loss was the only immunohistochemical abnormality significantly associated with earlier disease progression in early-stage MF, suggesting a potential prognostic role. In contrast, loss of CD2 and CD5 did not affect survival or progression, and CD3 was preserved in all cases. These findings highlight the value of incorporating CD7 status into prognostic assessment, although larger studies are needed to confirm its utility.

Dermatofibroma is a common mesenchymal skin lesion that typically presents as a firm, slow-growing nodule. Generally, such lesions are asymptomatic; however, they can also cause discomfort in some cases. Ulceration is an uncommon feature of dermatofibroma, and diagnosis in such cases is often difficult. We report a case of a 67-year-old female with multiple comorbidities, including pancreatic cancer undergoing neoadjuvant chemotherapy, who was admitted for acute pulmonary embolism. The patient presented with an incidental medial thigh lesion. The lesion was asymptomatic, ulcerated, and oozing pus one month before presentation. Clinical examination revealed a 3 × 2 cm deep ulcer with a punched-out edge, a dry yellow-white base, and a firm violaceous border. Histopathology confirmed dermatofibroma with epidermal hyperplasia, dermal spindle cell proliferation, histiocytes, and collagen trapping. Immunohistochemistry was positive for CD68, CD10, and Factor XIII. Due to the deteriorating condition of the patient, no intervention was provided to her, and she succumbed to her primary illness. This case is unique due to its atypical ulcerative presentation in a patient with complex systemic illness and emphasizes distinguishing between benign lesions and malignant mimics, especially in cases which have ambiguous clinical presentation.

I have reviewed the insightful comments on my review article titled "Direct Immunofluorescence of Skin and Oral Mucosa: Guidelines for Selecting the Optimum Biopsy Site" [...].

Compilation written by Muhammad N [...].

Background: Hidradenitis suppurativa (HS) is a chronic inflammatory disease with a complex immune response. Given the considerable heterogeneity of the clinical phenotype of HS, this study aimed to analyse the immunohistochemical pattern of interstitial inflammation.

Methods: Immunohistochemical analysis was performed on skin samples from 49 patients with HS. The immunohistochemical markers CD3, CD4 and CD8 for T-cells, CD20 for B-cells, CD138 for plasma cells and CD30, CD56, Bcl-2 and Bcl-6 were stained on lesional skin.

Results: The analysis of immune cell dominance in patients with HS revealed that 33.3% of the cohort exhibited B-cell dominance, defined as a ratio of the sum of CD20+ and CD138+ cells to CD3+ cells greater than 1, while the majority (66.7%) demonstrated T-cell dominance, defined as a ratio of CD3+ cells to the sum of CD20+ and CD138+ cells greater than 1. B-cell-dominant HS is associated with a significantly elevated probability of mammary involvement (13.3% vs. 0%; p = 0.041). T-cell-dominant HS patients tended to demonstrate a higher mean tobacco consumption, but not significantly (20 vs. 5 tobacco pack-years; p = 0.06). CD4-dominant HS patients exhibited a significantly greater involvement of the mons pubis (62.5% vs. 28.6%, p = 0.023) compared to CD8-dominant patients, who demonstrated a significantly higher number of abscesses (p = 0.027).

Conclusions: For the first time, we describe the clinical and immunohistochemical characteristics of T-cell- and B-cell-dominant HS. Although HS seems to be more dominated by T-cells, a B-cell dominance was found in 33% of cases.

Pilomatricomas are benign tumors originating from hair follicle matrix cells and represent the most common skin tumors in pediatric patients. Pilomatricomas may be associated with genetic syndromes such as myotonic dystrophy, familial adenomatous polyposis (FAP), Turner syndrome, Rubinstein-Taybi syndrome, Kabuki syndrome, and Sotos syndrome. This study reviews the literature on pilomatricomas occurring in syndromic contexts and presents a novel case linked to Apert syndrome. A systematic review was conducted using PubMed and Cochrane databases, focusing on case reports, case series, and reviews describing pilomatricomas associated with syndromes. A total of 1272 articles were initially screened; after removing duplicates and excluding articles without syndromic diagnoses or lacking sufficient data, 81 full-text articles were reviewed. Overall, 96 cases of pilomatricomas associated with genetic syndromes were identified. Reports of patients with Apert syndrome who do not develop pilomatricomas are absent in the literature. Pilomatricomas predominantly affect pediatric patients, with a slight female predominance, and are often the first manifestation of underlying genetic syndromes. Our study highlights previously unreported associations of pilomatricoma with Apert syndrome, providing molecular insights. This study contributes to understanding the clinical and molecular features of pilomatricomas in syndromic contexts and underscores the importance of genetic analysis for accurate diagnosis and management.

Whether the spongiotic reaction caused by the interaction of keratinocytes, T-lymphocytes, inflammatory dendritic epidermal cells (IDECs), and Langerhans cells (LCs) observed in atopic dermatitis (AD) represents a common feature of spongiosis in various skin diseases remains unclear. We analyzed the characteristics of spongiosis in AD compared with those in other eczematous dermatitis and inflammatory skin diseases by using immunohistochemical methods. Infiltration of IDECs (CD11c+ cells and/or CD206+ cells) and T-lymphocytes, accompanied by degenerated keratinocytes and aggregated LCs (CD207+ cells), was frequently observed as a common feature of spongiosis in multiple conditions. However, IDECs expressing IgE were identified exclusively in IgE-mediated AD. Aggregation of IDECs was predominantly observed in the spongiosis of adaptive immune-mediated eczematous disorders, such as AD and allergic contact dermatitis. These IDEC aggregations constituted the major components of the epidermal dendritic cell clusters seen in AD and other eczematous or eczematoid dermatoses, and may serve as a useful distinguishing marker from Pautrier collections seen in cutaneous T-cell lymphoma. These findings suggest that IDECs, in cooperation with other immune cells, may play a pivotal role in spongiosis formation in AD and various skin diseases, although the underlying immunopathological mechanisms differ among these conditions.

In this review, we explore the complexities of objectively assessing the response to immunotherapy in mycosis fungoides (MF), a prevalent form of cutaneous T-cell lymphoma. The core challenge lies in distinguishing between reactive and malignant lymphocytes amidst treatment, particularly given the absence of uniform pathological biomarkers for MF. We highlight the vital role of emerging histological technologies, such as multispectral imaging and spatial transcriptomics, in offering a more profound insight into the tumor microenvironment (TME) and its dynamic response to immunomodulatory therapies. Drawing on parallels with melanoma-another immunogenic skin cancer-our review suggests that methodologies and insights from melanoma could be instrumental in refining the approach to MF. We specifically focus on the prognostic implications of various TME cell types, including CD8+ tumor-infiltrating lymphocytes, natural killer (NK) cells, and histiocytes, in predicting therapy responses. The review culminates in a discussion about adapting and evolving treatment response quantification strategies from melanoma research to the distinct context of MF, advocating for the implementation of novel techniques like high-throughput T-cell receptor gene rearrangement analysis. This exploration underscores the urgent need for continued innovation and standardization in evaluating responses to immunotherapies in MF, a field rapidly evolving with new therapeutic strategies.

A 29-year-old gentleman of African descent presented to the emergency department with a three month history of a rash affecting the trunk, upper limbs, and thighs. The patient was unsure of any triggers and denied any preceding illness, new medications, illicit drug use, or recent vaccinations. On examination, there was a widespread papulosquamous eruption characterised by scaly, hyperpigmented papules and plaques involving the trunk, upper arms, and upper thighs. A definitive diagnosis was established through a diagnostic skin biopsy of a fresh lesion.