ABSTRACT
INTRODUCTION: Cutaneous adverse events can occur in patients treated with antineoplastic treatments, albeit their incidence has not been defined yet. The clinical presentation of CAEs related to anticancer treatments can vary. The purpose of our study is to characterize skin toxicities during oncological treatments, manage such adverse events to improve patients' quality of life, and ensure therapeutic adherence. METHODS: We conducted a single-center prospective study which provided the enrollment of all patients referred to the Skin Toxicity Outpatient Clinic for the occurrence of cutaneous adverse events secondary to an ongoing antineoplastic treatment, between July 2021 and June 2023. We analyzed clinical features, and we described our therapeutic approach. RESULTS: Based on the type of drug assumed, chemotherapy-induced skin toxicity in 24 (38.7%) of the 62 evaluated patients, target therapies in 18 (29.0%), CDK4/6 cyclin inhibitors in 12 (19.4%), and immunotherapy in 6 (9.7%), while skin adverse events secondary to hormone therapy were seen in two patients. The most common cutaneous adverse event in our experience was rosaceiform rash of the face, followed by eczematous rash, hand-foot syndrome, and folliculitis. CONCLUSION: The present study is aimed at describing the variability and heterogeneity of clinical manifestations of different pharmacological classes used in oncological patients, as well as the different pathogenesis of skin damage. Chemotherapy very frequently causes skin toxicities that are often underestimated by clinicians. Their adequate recognition and optimal treatment lead to total recovery and allow better adhesion to chemotherapy.
Subject(s)
Antineoplastic Agents , Exanthema , Humans , Prospective Studies , Quality of Life , Skin , Antineoplastic Agents/adverse effectsABSTRACT
Primary Cutaneous CD4+ Small/Medium T-Cell Lymphoproliferative Disorders (SMPLPD), also known as PCS-TCLPD, represent a rare group of hematologic diseases primarily affecting the skin. In this retrospective single-centre case series study, we aimed to investigate the demographic, clinical, therapeutic, and prognostic aspects of SMPLPD. We collected data from cases diagnosed between 2010 and the present, employing histopathological and immunohistochemical methods following WHO criteria. We included 22 patients with a median age of 61.50 years and median time between clinical onset and diagnosis of 3.00 months. Surgical excision with conservative margins was the primary choice, showing clinical remission in 17 cases, while non-surgical treatments, including radiotherapy, high-potency steroid treatment and ablative laser, achieved clinical remission in four cases. Clinical presentations varied, but the most common one was a single violaceous nodule/papule on upper body parts. In conclusion, our single-centre case series provides valuable insights into SMPLPD, highlighting the effectiveness of surgical treatments and the potential of non-surgical ones. Even if controversial, the benign nature of SMPLPD emphasizes the importance of achieving tumour clearance with acceptable aesthetic outcomes.
ABSTRACT
BACKGROUND: Managing a pregnant patient with chronic spontaneous urticaria (CSU) is often challenging. Recent data have shown that most CSU treatments in pregnant patients are second-generation H1 antihistamines (sgAHs), while data on the safety of omalizumab are scant. OBJECTIVES: To evaluate, in a routine clinical practice setting, the efficacy and safety of omalizumab in patients with severe CSU refractory to sgAHs who either became pregnant during treatment or who started the drug during pregnancy. METHODS: We conducted a retrospective study of women aged ≥ 18â years who were pregnant, who received one or more doses of omalizumab at any time during their pregnancy or who were taking omalizumab at the time of, or in the 8 weeks before, conception. RESULTS: Twenty-nine pregnant patients were evaluated: 23 (79%) conceived a child while taking omalizumab (group A), while 6 (21%) started omalizumab treatment during pregnancy (group B). Among patients in group A, we observed 23 births (21 liveborn singletons and 1 liveborn twin pair) and 1 miscarriage. Fifteen (65%) patients discontinued omalizumab after confirming their pregnancy, while eight (35%) were exposed to omalizumab during their entire pregnancy. In group B, omalizumab was introduced at a mean (SD) 10.83 (3.60) weeks' gestation and all patients were exposed to it until the end of pregnancy. In this group, there were seven liveborn infants (five singletons and one twin pair). No adverse events, pregnancy complications or congenital anomalies in newborns were recorded in either group. CONCLUSIONS: Omalizumab for CSU treatment before and during pregnancy does not appear to have negative effects on maternal or fetal outcomes.
Subject(s)
Anti-Allergic Agents , Chronic Urticaria , Urticaria , Adolescent , Adult , Female , Humans , Infant, Newborn , Pregnancy , Anti-Allergic Agents/adverse effects , Chronic Disease , Chronic Urticaria/drug therapy , Omalizumab/adverse effects , Retrospective Studies , Treatment Outcome , Urticaria/drug therapyABSTRACT
BACKGROUND: Trichophyton rubrum and Trichophyton mentagrophytes variant interdigitalis are the most frequent etiologic agents of onychomycosis. Diagnosis of certainty requires mycological examination, which often results unfeasible. OBJECTIVES: The aim of our study is to describe pathogen specific dermoscopic features, allowing a differential diagnosis without the need for cultural examination, in order to prescribe the most appropriate treatment anyway. PATIENTS AND METHODS: We conducted an observational retrospective study on 54 patients with a culture proven diagnosis of distal subungual onychomycosis of the toenail, caused by Trichophyton rubrum or Trichophyton mentagrophytes variant interdigitalis. Using a videodermatoscope we collected data on nail colour (white, yellow, orange, brown, dark) and on dermoscopic patterns (aurora, spikes, jagged, ruin, linear edge, dots, striae). RESULTS: Fifty-four patients, with a total of 72 nails, were eligible for this study. Analysing the association between discoloration of the nail plate and type of infection (T. rubrum or T. interdigitalis), no correlation turned out to be statistically significant. Instead, significant associations between spikes and T. rubrum infection and striae and infection from T. interdigitalis were identified. Finally, a 100% specificity was identified for white colour and ruin pattern for T. rubrum infection, and brown colour, jagged border and aurora pattern for T. interdigitalis. CONCLUSIONS: Trying to find relationships between specific pathogens and dermoscopic patterns, we found out an association between spikes and striae and T. rubrum and T. interdigitalis respectively. Further larger studies are however necessary to evaluate our preliminary findings.
Subject(s)
Arthrodermataceae , Onychomycosis , Trichophyton , Humans , Onychomycosis/diagnosis , Onychomycosis/microbiology , Retrospective StudiesABSTRACT
Nondermatophyte moulds (NDMs) are widely distributed and can be detected in association with mycotic nails; however, sometimes it can be challenging to establish the role of NDMs in the pathogenesis of onychomycosis (i.e. causative vs. contaminant). In studies where the ongoing invasive presence of NDMs is confirmed through repeat cultures, the global prevalence of NDMs in onychomycosis patients is estimated at 6.9% with the 3 most common genus being: Aspergillus, Scopulariopsis and Fusarium. NDM onychomycosis can, in many cases, appear clinically indistinguishable from dermatophyte onychomycosis. Clinical features suggestive of NDMs include proximal subungual onychomycosis with paronychia associated with Aspergillus spp., Fusarium spp. and Scopulariopsis brevicaulis, as well as superficial white onychomycosis in a deep and diffused pattern associated with Aspergillus and Fusarium. Longitudinal streaks seen in patients with distal and lateral onychomycosis may serve as an additional indicator. For diagnosis, light microscopic examination should demonstrate fungal filaments consistent with an NDM with at least two independent isolations in the absence of a dermatophyte; the advent of molecular testing combined with histological assessment may serve as an alternative with improved sensitivity and turnover time. In most instances, antifungal susceptibility testing has limited value. Information on effective treatments for NDM onychomycosis is relatively scarce, unlike the situation in the study of dermatophyte onychomycosis. Terbinafine and itraconazole therapy (continuous and pulsed) appear effective to varying extents for treating onychomycosis caused by Aspergillus, Fusarium or Scopulariopsis. There is scant literature on oral treatments for Neoscytalidium.
Subject(s)
Onychomycosis , Paronychia , Humans , Onychomycosis/diagnosis , Onychomycosis/drug therapy , Onychomycosis/epidemiology , Terbinafine/therapeutic use , Itraconazole/therapeutic use , Treatment OutcomeABSTRACT
OBJECTIVE: This study aimed to identify the sonographic features of pathologically confirmed onychopapilloma cases. METHODS: High-frequency up to 24 MHz and ultra-high frequency-ultrasound up to 71 MHz examinations were performed and correlated with their clinical and pathologic presentations. RESULTS: Twenty-two cases met the criteria. Clinical presentations revealed longitudinal erythronychia in 63.3% of cases. The ultrasound examinations identified a hypoechoic band in the nail bed (86.3%), nail plate abnormalities including upward displacement (68.2%) and thickening (68.1%), focal hyperechoic focal spots on the nail plate (50%) and irregularities of the ventral plate (33.3%). Color Doppler imaging showed no hypervascularity of the nail bed in all studies. These findings correlate with histological characteristics of onychopapilloma, including nail bed acanthosis, papillomatosis, and layered hyperkeratosis. Recurrence occurred in two cases after surgery, with tumors showing proximal extension in the matrix region on ultrasound not evident during clinical examination. CONCLUSION: High-frequency and ultra-high-frequency can provide anatomical information in onychopapilloma that could enhance understanding and management.
Subject(s)
Nail Diseases , Papilloma , Humans , Nail Diseases/diagnostic imaging , Papilloma/pathology , Nails/diagnostic imaging , Ultrasonography , Ultrasonography, Doppler, ColorABSTRACT
Many automated approaches have been proposed in literature to quantify clinically relevant wound features based on image processing analysis, aiming at removing human subjectivity and accelerate clinical practice. In this work we present a fully automated image processing pipeline leveraging deep learning and a large wound segmentation dataset to perform wound detection and following prediction of the Photographic Wound Assessment Tool (PWAT), automatizing the clinical judgement of the adequate wound healing. Starting from images acquired by smartphone cameras, a series of textural and morphological features are extracted from the wound areas, aiming to mimic the typical clinical considerations for wound assessment. The resulting extracted features can be easily interpreted by the clinician and allow a quantitative estimation of the PWAT scores. The features extracted from the region-of-interests detected by our pre-trained neural network model correctly predict the PWAT scale values with a Spearman's correlation coefficient of 0.85 on a set of unseen images. The obtained results agree with the current state-of-the-art and provide a benchmark for future artificial intelligence applications in this research field.
Subject(s)
Artificial Intelligence , Benchmarking , Humans , Image Processing, Computer-Assisted , Neural Networks, Computer , PhotographyABSTRACT
Monkeypox infection is a zoonosis first described in humans in 1970 in Congo. While previously manifesting in small, confined outbreaks, the disease is rapidly spreading globally. The aim of this study was to investigate microbiological samples (skin, rectal, and oropharyngeal swab samples and plasma and urine samples) that can help in adequate diagnostic, therapeutic, and prognostic management. We present 30 laboratory-confirmed monkeypox patients with peculiar clinical and virological features admitted to the Sexually Transmitted Diseases Centre of Sant' Orsola Hospital, University of Bologna, in the period between 20 June and 10 August 2022. Demographic, anamnestic, and clinical data were obtained, and microbiological samples were collected and analyzed by real-time PCR to detect the presence of monkeypox virus (MPXV) DNA. All monkeypox patients were adult men who have sex with men (MSM) (mean age, 37.5 years). Nonskin samples were collected from 29 patients during the acute phase of the infection. The detection rates of MPXV DNA in plasma, urine, and oropharyngeal swab samples (82.3%, 64.7%, and 75.0%, respectively) were highest in samples collected 4 to 6 days after symptom onset. The presence of MPXV in plasma and urine samples was analyzed 11 to 38 days after symptom onset to monitor viral shedding duration. Interestingly, MPXV DNA was detected in a urine sample collected on day 21 in one patient. Prolonged positivity in urine after the clinical recovery suggests a potential source of infection by contamination of wastewater and sewage and transmission to possible animal reservoirs and highlights the need for further investigations on nonskin samples to extend and more adequately standardize the patient isolation period.
Subject(s)
Disease Outbreaks , Mpox (monkeypox) , Adult , Animals , Humans , Male , DNA , Hospitals/statistics & numerical data , Mpox (monkeypox)/diagnosis , Mpox (monkeypox)/epidemiology , Sexual and Gender Minorities/statistics & numerical dataABSTRACT
BACKGROUND: Baricitinib is approved for the treatment of adults with severe alopecia areata (AA). In the absence of robust data on the patterns of regrowth during treatment of severe AA, there is a gap in the knowledge regarding treatment expectations. OBJECTIVES: To examine whether different clinical response subgroups could be identified in baricitinib-treated patients with severe AA and factors that contribute to these subgroups. METHODS: The BRAVE-AA1 and BRAVE-AA2 phase III trials enrolled patients with severe AA [Severity of Alopecia Tool (SALT) score ≥ 50 (≥ 50% scalp hair loss)]. Patients randomized to baricitinib 4â mg or 2â mg retained their treatment allocation for 52 weeks. Based on patterns identified through growth mixture modelling (GMM), patients were categorized into responder subgroups according to when they first achieved ≥ 30% improvement from baseline in SALT score (SALT30). For each responder subgroup, trajectories of response (i.e. achievement of a SALT score ≤ 20, SALT score ≤ 10 and ≥ 50% change from baseline in SALT score) and baseline disease characteristics are reported. RESULTS: Respectively, 515 and 340 patients were randomized to once-daily baricitinib 4â mg and 2â mg at baseline; 69% and 51%, respectively, achieved SALT30 at least once by week 52. Based on GMM findings, we identified three responder subgroups: early (SALT30 by week 12), gradual (SALT30 after week 12-week 36) and late (SALT30 after week 36-week 52). The proportions of early, gradual and late responders and nonresponders were, respectively, 33%, 28%, 8% and 31% among patients treated with baricitinib 4â mg, and 20%, 23%, 9% and 49%, respectively, among those treated with baricitinib 2â mg. Early responders had a shorter trajectory to maximal clinical outcomes (e.g. > 78% achieved a SALT score ≤ 20 by week 36) vs. gradual or late responders. Early responders were more frequent among patients with baseline severe AA (SALT score 50 to < 95) vs. very severe AA (SALT score 95-100). Overall, responders (early to late) were more frequent in patients with short (< 4â years) episodes of hair loss. CONCLUSIONS: These analyses identified early, gradual and late responder subgroups for scalp hair regrowth in baricitinib-treated patients with severe AA, and that these subgroups are influenced by baseline characteristics. Findings from these analyses will help to inform treatment expectations for scalp hair regrowth.
Subject(s)
Alopecia Areata , Azetidines , Purines , Pyrazoles , Sulfonamides , Adult , Humans , Alopecia Areata/drug therapy , Hair , Scalp , Randomized Controlled Trials as Topic , Clinical Trials, Phase III as TopicABSTRACT
INTRODUCTION: Mycosis fungoides (MF) and Sezary Syndrome are the most common forms of cutaneous T-cell lymphoma. Early-stage MF is known to have an indolent behavior, and the EORTC guidelines recommend treating patients with skin-directed therapies, such as phototherapy, instead of systemic therapies. Phototherapy is a popular therapeutic option, with two commonly used light sources-PUVA and narrow band-nb UVB. PUVA is less commonly used due to its potential carcinogenic role, but it has systemic effects, while nb-UVB has mostly skin-limited effects. There is ongoing debate regarding the role of UVB light, and in 2021, the Cutaneous Lymphoma Italian Study Group reached a consensus on technical schedules for NB-UVB and PUVA for MF. This study aims to analyze and compare the efficacy of the two phototherapy options in treating early-MF patients. MATERIALS AND METHODS: The study included patients diagnosed with stage IA/B MF in the last 10 years, who had at least 12 months of follow-up data and a minimum of 24 phototherapy sessions (PUVA or nb UVB) and treated with topical steroids apart from phototherapy. RESULTS: Results showed that the two phototherapy options were similarly effective in treating early MF, with no significant differences in clinical response, although PUVA was associated with more adverse effects. CONCLUSIONS: The study provides valuable insights into the use of phototherapy in early MF, and the results can be used to guide treatment decisions and improve patient outcomes.
Subject(s)
Lymphoma, T-Cell, Cutaneous , Mycosis Fungoides , Skin Neoplasms , Ultraviolet Therapy , Humans , Cross-Sectional Studies , Treatment Outcome , PUVA Therapy/methods , Mycosis Fungoides/drug therapy , Mycosis Fungoides/radiotherapy , Skin Neoplasms/drug therapy , Skin Neoplasms/radiotherapy , Ultraviolet Therapy/methodsABSTRACT
Recently, the impressive efficacy of JAK-inhibitors (JAK-I) in alopecia areata (AA) has been described in several studies; however, to date, there is limited information on the safety of JAK-I in AA patients. For this reason, on 18 August 2022, a systematic review was performed to collect the premarketing and postmarketing data on the safety of JAK-I in patients treated for AA, evaluating for each molecule the reported adverse events (AEs) in indexed literature and their frequency. The keywords 'alopecia areata' AND 'Jak-inhibitors OR Janus-kinase Inhibitors' were searched on PubMed, Embase and Cochrane databases. Of 407 studies retrieved, 28 papers met the requirements and were used in our review, including five RCTs and 23 case series; overall, 1719 patients were included, and the safety of 6 JAK-I was assessed (baricitinib, brepocitinib, deuruxolitinib, ritlecitinib, ruxolitinib and tofacitinib). Systemic JAK-I were well-tolerated, most of the AEs were mild, and the withdrawal rate for AEs was very low and inferior to placebo in controlled studies (1.6% vs. 2.2%). Laboratory abnormalities represented 40.1% of AEs associated with oral JAK-I, which mostly included the rise in cholesterol, transaminase, triglycerides, creatine phosphokinase (CPK) and sporadic cases of neutro/lymphocytopenia. The remaining AEs involved the respiratory tract (20.8%), the skin (17.2%), the urogenital (3.8%), or the gastroenterological (3.4%) tract. Increased rates of infections involved not only the upper (19.0%) and lower (0.3%) respiratory tract, but also the urogenital system (3.6%) and the skin (4.6%). Isolated cases of grade 3 to 4 AEs have been reported, including myocardial infarction, hypertensive urgencies, cellulitis, rhabdomyolysis, neutropenia and high elevation of creatinine kinase. No fatal outcomes were reported. AEs reported with topical formulation included scalp irritation and folliculitis. The main limit of this review is the lack of data related to postmarketing surveillance, which should be maintained on a long-term basis.
ABSTRACT
Effective cancer screening detects early-stage tumours, leading to a lower incidence of late-stage disease over time. Dermoscopy is the gold standard for skin cancer diagnosis as diagnostic accuracy is improved compared to naked eye examinations. As melanoma dermoscopic features are often body site specific, awareness of common features according to their location is imperative for improved melanoma diagnostic accuracy. Several criteria have been identified according to the anatomical location of the melanoma. This review provides a comprehensive and contemporary review of dermoscopic melanoma criteria according to specific body sites, including frequently observed melanoma of the head/neck, trunk and limbs and special site melanomas, located on the nail, mucosal and acral region.
Subject(s)
Melanoma , Skin Neoplasms , Humans , Dermoscopy , Melanoma/diagnostic imaging , Melanoma/pathology , Skin Neoplasms/diagnostic imaging , Skin Neoplasms/pathology , Extremities/diagnostic imaging , Extremities/pathology , Skin/pathologyABSTRACT
Hypertrichosis is defined as excessive hair growth anywhere on the body in either males or females. It may be caused by genetic conditions, endocrinological disorders, exposure to specific medications (including phenytoin, minoxidil and diazoxide) and other less frequent causes. We report the case of a 1-year-old boy with a family history of thyroid disease and alopecia areata who presented with generalized hypertrichosis due to secondary exposure to topical minoxidil. We discuss an uncommon cause of hypertrichosis and the importance of considering a wide differential diagnosis.
Subject(s)
Alopecia Areata , Hypertrichosis , Male , Female , Child , Humans , Infant , Minoxidil/adverse effects , Hypertrichosis/chemically induced , Alopecia/drug therapy , Alopecia Areata/chemically induced , Alopecia Areata/drug therapy , Diazoxide/therapeutic use , Diagnosis, Differential , Administration, TopicalABSTRACT
Intralesional injections of triamcinolone acetonide are widely used to successfully treat several inflammatory nail conditions. This procedure is well described in adults, but less frequently reported in children and teenagers, being largely considered too invasive and fear-provoking for pediatric patients. Our report shows how this procedure is feasible and successful in children, even without a digital block. The step-by-step technique and tips to reduce pain should encourage clinicians to offer it as an alternative option to children with inflammatory nail disorders.
Subject(s)
Nail Diseases , Adult , Adolescent , Humans , Child , Injections, Intralesional , Nail Diseases/drug therapy , Triamcinolone Acetonide/therapeutic use , Fear , Pain/drug therapy , Pain/etiologyABSTRACT
BACKGROUND: IL-23 inhibitors are the latest class of biologic drugs approved for moderate-to-severe psoriasis. OBJECTIVES: to investigate real-life safety and efficacy of tildrakizumab. METHODS: demographic data, medical history, psoriasis disease history, PASI, DLQI, BSA, NAPSI were recorded at weeks 0, 12, 24, 36. RESULTS: PASI, BSA, DLQI and NAPSI all decreased rapidly during the 36 week follow-up period. PASI score reduced from 12.28 to 4.65 by week 12, followed by a further decrease to 1.18 at week 36 Multiple logistic regression showed that smoking, BMI ≥30, ≥3 comorbidities, previous systemic traditional or biologic drugs, psoriatic arthritis nor difficult-to-treat areas influenced the reduction of PASI and NAPSI scores during treatment with tildrakizumab (P > .05). CONCLUSIONS: we assessed a good performance of tildrakizumab in patients with multiple comorbidities, multi-failure, elderly patients, and in subjects with psoriatic arthritis.
Subject(s)
Arthritis, Psoriatic , Psoriasis , Humans , Aged , Arthritis, Psoriatic/drug therapy , Treatment Outcome , Psoriasis/drug therapy , Italy/epidemiology , Severity of Illness IndexABSTRACT
Collagen VI-related myopathies are characterized by severe muscle involvement and skin involvement (keratosis pilaris and impaired healing with the development of abnormal scars, especially keloids). Scalp involvement and hair loss have not been reported among cutaneous changes associated with collagen VI mutations. The aim of this study is to describe the clinical, trichoscopic, and histological findings of the scalp changes in patients affected by COL VI mutations and to estimate their prevalence. Patients with Ullrich congenital muscular dystrophy were enrolled and underwent clinical and trichoscopic examinations and a scalp biopsy for histopathology. Five patients were enrolled, and all complained of hair loss and scalp itching. One patient showed yellow interfollicular scales with erythema and dilated, branched vessels, and the histological findings were suggestive of scalp psoriasis. Two patients presented with scarring alopecia patches on the vertex area, and they were histologically diagnosed with folliculitis decalvans. The last two patients presented with scaling and hair thinning, but they were both diagnosed with folliculitis and perifolliculitis. Ten more patients answered to a "scalp involvement questionnaire", and six of them confirmed to have or have had scalp disorders and/or itching. Scalp involvement can be associated with COL VI mutations and should be investigated.
Subject(s)
Folliculitis , Muscular Diseases , Humans , Scalp/pathology , Alopecia/genetics , Alopecia/pathology , Folliculitis/pathology , Collagen , Pruritus , PhenotypeABSTRACT
Little is known about benign non-melanocytic nail tumors, probably due to their low pathogenicity. They are commonly misdiagnosed as inflammatory or infective diseases. They have various features, depending on the type of tumor and its location in the nail apparatus. The typical sign of a tumor is the presence of a mass and/or secondary nail changes from damaged nail structures. In particular, if a single digit is affected by a dystrophic sign or a symptom is reported without any explanation, the presence of a tumor should always be ruled out. Dermatoscopy helps to enhance visualization of the condition and in many cases supports the diagnosis. It may also assist in identifying the right place to biopsy, but it never replaces surgery. Most common non-melanocytic nail tumors are analyzed in this paper, including glomus tumor, exostosis, myxoid pseudocyst, acquired fibrokeratoma, onychopapilloma, onychomatricoma, superficial acral fibromyxoma and subungual keratoacanthoma. The aim of our study is to review the main clinical and dermatoscopic characteristics of the most common benign non-melanocytic nail tumors, to correlate them with the histopathology and to advise practitioners of the best surgical management.
Subject(s)
Glomus Tumor , Nail Diseases , Skin Neoplasms , Humans , Skin Neoplasms/pathology , Glomus Tumor/pathology , Nails/pathology , Nail Diseases/pathology , BiopsyABSTRACT
Squamous cell carcinoma (SCC) is the most common malignancy of the nail unit. Pathogenetic mechanisms are yet to be determined, and a deeper molecular characterization of this disease is still necessary. The aim was to obtain a molecular characterization of NU SCC samples using an NGS approach to identify the genetic drivers involved in this tumor. The presence of HPV infection was also assessed. Furthermore, the mutational status was correlated with specific clinical-pathological features for a better insight into the carcinogenesis of this uncommon tumor. We analysed twenty paraffin-embedded nail unit SCC samples from patients diagnosed with primary SCC of the nail unit by next genome sequencing. In the 20 tested samples, the neoplastic cells enrichment ranged from 10% to 50% (mean value: 25.7%). In 14/20 cases (70.0%), at least one mutation was detected; whereas in the other six cases (30.0%), no alterations were observed ('wild-type/WT cases'). Overall, a total of 23 mutations were identified in the 20 specimens. TP53 was the most mutated gene (6/20 cases, 30.0%), while cKit, GNAS, EGFR, DICER1 and CTNNB1 were observed in one sample each (5.0%). No clinical-pathological parameters (age, sex, depth of invasion-DOI, histological subtype, grading and HPV) were significantly associated with the mutational status. The nail unit SCC mutational landscape appeared to be heterogeneous, favouring the hypothesis of a complex pathogenesis and an interaction of multiple elements, including HPV infections. This wealth of information undoubtedly improves our understanding of SCC biology.
Subject(s)
Carcinoma, Squamous Cell , Papillomavirus Infections , Carcinoma, Squamous Cell/genetics , Carcinoma, Squamous Cell/pathology , DEAD-box RNA Helicases/genetics , Humans , Mutation , Nails , Papillomavirus Infections/complications , Ribonuclease III/geneticsABSTRACT
BACKGROUND: Onychopapilloma is a benign tumor of the distal nail matrix and proximal nail bed with heterogeneous clinical presentations. It poses a diagnostic challenge because it could mimic subungual malignancies and inflammatory conditions. Clinical, onychoscopic, and histopathological clues play critical roles in diagnosis. METHODS: We performed a retrospective chart review of onychopapilloma cases collected over 10 years, and characterized the clinical, onychoscopic, and histopathological features of onychopapilloma at an academic institution. RESULTS: We obtained 17 biopsy-confirmed cases of onychopapilloma. Among our cases, we found manifestation of onychopapilloma as longitudinal erythronychia, longitudinal leukonychia, yellow-brown chromonychia, and longitudinal melanonychia. Long longitudinal or short splinter hemorrhages may be present. Distal fissuring with V-shaped notch, subungual keratotic mass, and onycholysis are other discernable features. Histopathological features include papillomatosis, epidermal hyperplasia, acanthosis of the distal nail bed, premature keratinization, matrix metaplasia, hyperkeratosis, and splinter hemorrhages; histopathological signs of malignancy were not observed in any of our cases. CONCLUSIONS: Onychopapilloma has polymorphic clinical and morphological features. Onychoscopic and histopathological studies are important to help exclude malignant mimickers. Consider onychopapilloma in the differential diagnoses of a monodactylous longitudinal streak in the nail, especially on the left thumb of an adult female.
Subject(s)
Nail Diseases/pathology , Papilloma/pathology , Skin Neoplasms/pathology , Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Retrospective Studies , Young AdultABSTRACT
Retronychia is an inflammatory disorder typical of the great toes characterized by arrested nail growth, ingrowth of the nail plate into the proximal nail fold and paronychia. There is no standardized treatment for retronychia, and its management should be weighed based on the severity stage, treatment modality, and clinical outcome. In this paper, a systematic review of the literature was performed to assess all published data regarding the treatment of retronychia. A total of 231 patients from 24 studies were included in the analysis. Conservative management was adopted in mild-intermediate forms, consisting of medical (topical or intralesional high-potency corticosteroids) and podiatric treatment (taping, clipping back the onycholytic plate, orthosis), leading to a global cure rate of 41.2%, with no reported side effects. Non-conservative management, that is, chemical or surgical avulsion of the nail plate, proved resolutive in 71.2% of cases. Surgical avulsion of the nail plate produced the highest cure rate (78.2%), but was burdened by 9.6% of long-term sequelae, mainly nail dystrophies. A decision-making algorithm was designed to give clinicians treatment indications based on the severity stage of retronychia, treatment invasiveness, and possible clinical outcomes.