RESUMO
BACKGROUND: Polymorphous low-grade neuroepithelial tumor of the young (PLNTY) is a rare entity of low-grade neuroepithelial tumors that primarily affects children and young adults. This distinct type of tumor presents unique challenges in diagnosis and management. With its relatively recent identification, researchers and clinicians are striving to understand the characteristics, behavior, and optimal treatment strategies. The symptoms are primarily related to seizures. However, PLNTY can be asymptomatic in some cases. MATERIALS AND METHODS: This is a single-center case report study and a literature review paper. We reviewed a case treated and diagnosed at the Ankara University Faculty of Medicine, Department of Neurosurgery. The demographic data, clinical follow-ups, laboratory, and radiological data of the patients were assessed. RESULTS: We present a 32-year-old male patient who has undergone gross total surgical excision with strict clinical follow-up. Clinical course as well as surgical data of the patient were observed and analyzed. CONCLUSION: On imaging, morphologic resembling and indistinctive clinical course can be nonspecific, contributing to diagnostic uncertainties. This case report was written with the notion that rare diagnoses present an opportunity to understand the progression and patho-oncological factors that can pave the way for better treatment.
Assuntos
Neoplasias Encefálicas , Neoplasias Neuroepiteliomatosas , Humanos , Masculino , Neoplasias Neuroepiteliomatosas/patologia , Neoplasias Neuroepiteliomatosas/diagnóstico , Neoplasias Neuroepiteliomatosas/cirurgia , Adulto , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/cirurgia , Diagnóstico DiferencialRESUMO
BACKGROUND: As the majority of T-cell lymphomas lack CD20 expression, cases of mycosis fungoides (MF) exhibiting aberrant CD20 expression are exceedingly uncommon. OBJECTIVES: We aim to comprehensively evaluate the clinical, histopathological, and prognostic features of 7 patients diagnosed with CD20-positive MF. METHODS: This retrospective study examines seven cases of MF with aberrant CD20 expression. The study provides details of demographics, clinical features, histopathology and treatment outcomes. Key time points include initial diagnosis of MF, detection of CD20 expression and follow-up, with a mean follow-up of 46 months. RESULTS: Aberrant CD20-positive MF was diagnosed at an average age of 58.6 years, approximately 5.6 years after first MF diagnosis. Following CD20 detection, patients presented with advanced disease stages, requiring treatments such as chemotherapy, brentuximab vedotin, and allogeneic hematopoietic stem cell transplantation. Four patients died from lymphoma, with an average survival time of 52 months. CONCLUSIONS: Aberrant CD20 expression in MF is rare but indicates a progressive course associated with poor prognosis. This often requires systemic chemotherapy and, in certain instances, allogeneic hematopoietic stem cell transplantation. This study provides important insights into the clinical attributes, disease progression, and treatment options for MF patients with aberrant CD20 expression. Further research is necessary to validate the effectiveness of emerging therapies and enhance our understanding of the underlying mechanisms and prognostic determinants specific to this unique MF subgroup.
RESUMO
ABSTRACT: Junctional epidermolysis bullosa (JEB) is a rare, incurable, devastating, and mostly fatal congenital genetic disorder characterized by painful blistering of the skin and mucous membranes in response to minor trauma or pressure. JEB is classified roughly into 2 subtypes: JEB-Herlitz is caused by mutations on genes encoding laminin-332. The authors present a patient consulted with a suspicion of primary immunodeficiency due to skin sores that started at the age of 1 month and a history of 3 siblings who died with similar sores, who was diagnosed with JEB-Herlitz after detecting a homozygous LAMC2 gene mutation in WES analysis. Microscopic evaluation of hematoxylin and eosin-stained sections showed vesicle formation with subepidermal separation, which is accompanied by striking neutrophil and eosinophil leukocyte infiltration both in the vesicle and papillary dermis (eosinophil-rich inflammatory infiltrate). Such a histopathological finding has been rarely reported in this condition.
Assuntos
Eosinófilos , Epidermólise Bolhosa Juncional , Homozigoto , Laminina , Mutação , Humanos , Epidermólise Bolhosa Juncional/genética , Epidermólise Bolhosa Juncional/patologia , Eosinófilos/patologia , Laminina/genética , Masculino , Feminino , Fenótipo , Predisposição Genética para Doença , LactenteRESUMO
BACKGROUND: A subset of melanocytic proliferations is difficult to classify by dermatopathology alone and their management is challenging. OBJECTIVE: To explore the value of correlation with dermatoscopy and to evaluate the utility of second opinions by additional pathologists. METHODS: For this single center retrospective study we collected 122 lesions that were diagnosed as atypical melanocytic proliferations, we reviewed dermatoscopy and asked two experienced pathologists to reassess the slides independently. RESULTS: For the binary decision of nevus versus melanoma the diagnostic consensus among external pathologists was only moderate (kappa 0.43; 95% CI 0.25-0.61). If ground truth were defined such that both pathologists had to agree on the diagnosis of melanoma, 13.1% of cases would have been diagnosed as melanoma. If one pathologist were sufficient to call it melanoma 29.5% of cases would have been diagnosed as melanoma. In either case, the presence of dermatoscopic white lines was associated with the diagnosis of melanoma. In lesions with peripheral dots and clods, melanoma was not jointly diagnosed by the two pathologists if the patient was younger than 45 years. CONCLUSIONS: A considerable number of atypical melanocytic proliferations may be diagnosed as melanoma if revised by other pathologists. The presence of white lines on dermatoscopy increases the likelihood of revision towards melanoma. Peripheral clods indicate growth but are not a melanoma clue if patients are younger than 45 years.
Assuntos
Melanoma , Nevo , Neoplasias Cutâneas , Humanos , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia , Estudos Retrospectivos , Melanoma/diagnóstico , Melanoma/patologia , Nevo/diagnóstico , Encaminhamento e Consulta , Diagnóstico DiferencialRESUMO
Combined tumours are uncommon and therefore these tumours may pose a diagnostic challenge. In the current case report, it is aimed to present the clinicopathological features of a combined tumour including melanoma with aberrant cytokeratin expression and poroma.
Assuntos
Melanoma , Poroma , Neoplasias Cutâneas , Neoplasias das Glândulas Sudoríparas , Humanos , Poroma/diagnóstico , Neoplasias Cutâneas/patologia , Melanoma/patologia , Neoplasias das Glândulas Sudoríparas/diagnóstico , Melanoma Maligno CutâneoRESUMO
Mycosis fungoides is the most commonly seen type of cutaneous T-cell lymphoproliferative disease. While mycosis fungoides is linked to an increased risk of developing secondary malignancies, the occurrence of B-cell-originated disease in association with it is exceedingly rare. A 66-year-old male with persistent papillomatous skin eruption was admitted due to dyspnea. Chest X-ray, positron emission tomography, and chest computed tomography revealed axillary and mediastinal lymph node enlargement and right lower pulmonary lobe infiltration along with right-sided massive pleural effusion. Histological and immunohistochemical findings of pleural biopsy and axillary lymph nodes suggested a diagnosis of pulmonary extranodal marginal zone lymphoma. Skin biopsies from the abdomen, chest, and legs revealed CD4/CD8 double-positive patch stage of mycosis fungoides. After completing six cycles of chemotherapy, complete remission of lymphoma was achieved, with the skin eruptions remaining unchanged. Herein, the authors present a unique case of concomitant diagnoses of mycosis fungoides and marginal zone B-cell lymphoma of the respiratory system to emphasize the importance of careful evaluation of each finding.
Assuntos
Linfoma , Micose Fungoide , Derrame Pleural , Neoplasias Cutâneas , Masculino , Humanos , Idoso , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia , Micose Fungoide/complicações , Micose Fungoide/diagnóstico , Micose Fungoide/patologia , Linfoma/complicações , Derrame Pleural/diagnóstico por imagem , Derrame Pleural/etiologia , Exsudatos e TransudatosRESUMO
Linear basal cell carcinoma (BCC) is a distinct clinical morphological variant of BCC. Although it has been speculated that trauma and the Koebner phenomenon may be linked to linear BCC, the pathophysiology has not yet been shown. Herein, 5 cases of BCC were presented that developed in the postauricular region as a result of trauma caused by the cords of the medical face masks worn during the COVID-19 pandemic.
Assuntos
COVID-19 , Carcinoma Basocelular , Máscaras , Neoplasias Cutâneas , Humanos , Carcinoma Basocelular/etiologia , Máscaras/efeitos adversos , Masculino , Neoplasias Cutâneas/etiologia , Feminino , Pessoa de Meia-Idade , Idoso , SARS-CoV-2RESUMO
BACKGROUND: Trigeminal neuralgia is the most common example of craniofacial neuralgia. Its etiology is unknown and is characterized by severe episodes of paroxysmal pain. The trigeminal ganglion and its adjacent anatomical structures have a complex anatomy. The foramen ovale is of great importance during surgical procedures such as percutaneous trigeminal rhizotomy for trigeminal neuralgia. OBJECTIVE: We aimed to identify the anatomical structures associated with the trigeminal ganglion and radiofrequency rhizotomy on cadavers and investigate their relationship with the electrodes used during rhizotomy to determine the contribution of the electrode diameter and length to the effectiveness of the lesion formation on the ganglion. METHODS: Five fresh-frozen cadaver heads injected with red silicone/latex were used. A percutaneous puncture was made by inserting of a cannula through the foramen ovale to create a pathway for electrodes. The relationships between the electrodes, Meckel's cave, trigeminal ganglion, and neurovascular structures were observed and morphometric measurements were obtained using a digital caliper. RESULTS: Trigeminal ganglion, therefore the electrode in its final position, shows proximity with important anatomical structures. The electrode was inserted posteriorly into the foramen ovale in all of the specimens and was located on the retrogasserian fibers. This study revealed that the electrodes targeting the ganglion and passing through the foramen ovale may cause a radiofrequency lesion due to the contact effect of the dura itself pressing on the electrode. Pushing the cannula beyond the petroclival angle may result in puncturing of the dura propria and moving further away from the target area. CONCLUSION: The success of radiofrequency rhizotomy is directly related to the area affected by the lesion. Understanding the mechanism of action underlying this procedure will ensure the effectiveness, success, and sustainability of the treatment.
Assuntos
Forame Oval , Neuralgia do Trigêmeo , Cadáver , Forame Oval/cirurgia , Humanos , Rizotomia/métodos , Gânglio Trigeminal/cirurgia , Neuralgia do Trigêmeo/cirurgiaRESUMO
Spitzoid melanocytic lesions characterized by spindle and/or epithelioid tumour cells can occur anywhere on the skin but the acral presentation of Spitz naevus is very rare and comprises about <4% of all Spitz naevi. However, data regarding their dermatoscopic features on the acral volar skin are scarce. Herein, 11 cases of acral Spitz naevus involving the glabrous skin with predominant dermatoscopic findings of atypical fibrillar pattern in non-pressure bearing areas, a structureless pigmentation involving both the furrows and the ridges are presented.
Assuntos
Melanoma , Nevo de Células Epitelioides e Fusiformes , Neoplasias Cutâneas , Humanos , Melanoma/patologia , Neoplasias Cutâneas/patologia , Pele/patologia , Melanócitos/patologia , Diagnóstico DiferencialRESUMO
Non-melanoma skin cancer (NMSC), predominantly squamous cell carcinoma (SCC) and basal cell carcinoma, is increasing worldwide. Dermatoscopy, which is one of the non-invasive diagnostic techniques, is important for early diagnosis of NMSC. In this study we aimed to determine dermatoscopic features of keratinocyte derived tumors including actinic keratosis (AK), Bowen's disease (BD), keratoacanthoma (KA), and SCC and correlate the dermatoscopic findings with pathology. A total of 242 lesions from 169 patients were included in the study and dermatoscopic and dermatopathological findings of the lesions were retrospectively studied. Revised pattern analysis was used for the dermatoscopic evaluation. Among 242 lesions, 145 were clinically flat (86 AK, 30 BD, and 29 SCC). Presence of vessels, ulceration, fiber sign, keratin mass, and blood spots decreased the probability of a lesion being AK. When the differential diagnosis was considered between KA and SCC vs AK and BD; vessel presence, ulceration, fiber sign, blood spots, white structureless, keratin, and centred vessels favored the diagnosis of KA and SCC. Our results may contribute to the determination of the lesions to be biopsied in patients with multiple AK on chronically sun damaged skin. In non-pigmented lesions when a final diagnosis cannot be established, knowledge of dermatopathologic and dermatoscopic correlation may significantly assist interpretation of dermatoscopic patterns and clues.
Assuntos
Doença de Bowen , Carcinoma de Células Escamosas , Ceratoacantoma , Ceratose Actínica , Neoplasias Cutâneas , Doença de Bowen/diagnóstico por imagem , Carcinoma de Células Escamosas/diagnóstico por imagem , Humanos , Ceratoacantoma/diagnóstico por imagem , Ceratose Actínica/diagnóstico por imagem , Estudos Retrospectivos , Neoplasias Cutâneas/diagnóstico por imagemRESUMO
Folliculotropic mycosis fungoides (FMF) is characterized by a broad clinical spectrum and worse prognosis compared to classical MF. This study aimed to evaluate the clinical characteristics, treatment modalities and long-term outcome and risk factors for progression and survival of FMF patients. We conducted a single-center retrospective study and reviewed 53 patients diagnosed with FMF between 1990 to 2019 in a referral center at Ankara University, Turkey. Regarding to stage at diagnosis, 24 patients (45.3%) had advanced-stage disease (≥IIB). Follicular papules was observed in 66% and alopecia in 49.1% of the cases. Forty-three patients (81.1%) suffered from pruritus. The majority of the patients (92.4%) had at least one systemic therapy. Complete remission was achieved in 24.5% of the patients. The median time of overall survival (OS) was 50 months (range 9-324 months) and 5-year and 10-year OS was 83% and 69%, respectively. Twenty-eight (52.3%) patients progressed to more advanced stages and seven (13.2%) patients died due to MF during the follow-up period. FMF is associated with a progressive course and in most patients, skin-directed therapies were found to be inefficient to control the disease and multiple systemic therapeutic agents were required to control the disease.
Assuntos
Micose Fungoide , Neoplasias Cutâneas , Humanos , Micose Fungoide/diagnóstico , Micose Fungoide/terapia , Estudos Retrospectivos , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/terapia , Centros de Atenção Terciária , TurquiaRESUMO
INTRODUCTION: Ipilimumab is an anti-cytotoxic T lymphocyte antigen 4 (CTLA-4) antibody. Ipilimumab has shown improvement in overall survival in patients with advanced melanoma. Because ipilimumab activates the immune system against the tumor, ipilimumab is associated with adverse events related to immune system activation. Immune-associated side effects are frequently seen in the gastrointestinal system and skin. Sweet's syndrome (SS) is an uncommon inflammatory disorder. Some drugs or malignancy can cause SS. Only a few case reports have been reported of ipilimumab-associated SS. CASE: A 53-year-old female with metastatic melanoma was treated with ipilimumab. After the fourth cycle, she developed painful lesions on her legs and hands. The pathologic biopsy of the lesions revealed neutrophilic dermatosis consistent with SS.Management and outcome: The patient was treated with 60 mg/day of prednisone for four days, nonsteroidal anti-inflammatory drugs and inhaler bronchodilator and steroid. She had symptomatic relief at the beginning of treatment. The prednisone doses were quickly tapered every three days. When the patient was treated with 10 mg/day of prednisone for three days, the skin nodules recurred. Prednisone 40 mg per day was re-started and then a slower taper by decreasing by 10 mg/day every week was instituted. After one-month treatment the prednisone dose was given as a 5 mg doses for one week and then stopped. No new lesions recurred after slower taper of prednisone. CONCLUSION: Herein we report a case presented with SS under ipilimumab therapy. Melanoma patients treated with ipilimumab can develop SS. The clinicians should be aware of this condition.
Assuntos
Ipilimumab/efeitos adversos , Melanoma/tratamento farmacológico , Síndrome de Sweet/induzido quimicamente , Biópsia , Antígeno CTLA-4/antagonistas & inibidores , Feminino , Humanos , Ipilimumab/uso terapêutico , Pessoa de Meia-Idade , Prednisona/uso terapêutico , Neoplasias Cutâneas/tratamento farmacológicoRESUMO
Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis associated with hypersensitivity to ultraviolet radiation (UVR), being due to defects involving the nucleotide excision repair pathway. Patients with XP are prone to develop multiple cutaneous neoplasms including non-melanoma skin cancers and melanoma. Collision tumors in patients with XP have been reported in the literature including the following lesions, actinic keratosis, basal cell carcinoma, squamous cell carcinoma, and in situ melanoma. Herein, we present a rare collision tumor composed of melanoma and basosquamous carcinoma in a 13-year-old XP patient and describe the dermoscopic features.
Assuntos
Carcinoma Basoescamoso/patologia , Neoplasias Faciais/patologia , Melanoma/patologia , Neoplasias Cutâneas/patologia , Xeroderma Pigmentoso/complicações , Xeroderma Pigmentoso/patologia , Adolescente , Carcinoma Basoescamoso/etiologia , Neoplasias Faciais/etiologia , Humanos , Masculino , Melanoma/etiologia , Neoplasias Cutâneas/etiologiaRESUMO
BACKGROUND/OBJECTIVE: There are a limited number of studies regarding the dermoscopic features and dermatopathological correlations of Kaposi sarcoma. The primary objective of this study was to evaluate dermoscopic features of Kaposi sarcoma, and the secondary objective was to investigate their dermatopathological correlates. METHODS: Dermoscopic and clinical analysis of 222 lesions from 38 patients with histologically confirmed Kaposi darcoma were assessed by two investigators. A total of 83 biopsies were available from different clinical stages. Additionally, 3 mm punch biopsy was performed where newly defined dermoscopic findings were observed. Modified pattern analysis algorithm was used for the dermoscopic evaluation. RESULTS: The most common dermoscopic features of Kaposi sarcoma were white lines (55.9%) and white clods (37.8%) followed by surface scale (32.9%) and polychromatic colour change (22.1%). Four dot clods, white lines, white clods, collarette sign, serpentine vessels, dotted, curved and coiled vessels were the new dermoscopic findings of our study. Polychromatic colour change is correlated with the presence of hyaline globules probably with their birefringence properties, whereas we found no significant correlation between polychromatic colour change and honeycomb-like pattern of vascular spaces. CONCLUSIONS: White lines, white clods, four dot clods, collarette sign, serpentine vessels, dotted, curved and coiled vessels are the new dermoscopic features of Kaposi sarcoma, and polychromatic colour change is correlated with the presence of hyaline globules.
Assuntos
Dermoscopia , Sarcoma de Kaposi/patologia , Neoplasias Cutâneas/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Algoritmos , Biópsia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Pele/patologiaRESUMO
Mycosis fungoides is a cutaneous T-cell lymphoma that has been rarely reported to involve ocular structures. Ophthalmic manifestations usually appear in advanced disease. A case of a 58-year-old man presenting with progressive, full thickness, giant upper eyelid mass is presented. The patient had a long history of recurrent tumoral lesions on the trunk and limbs, previously diagnosed as mycosis fungoides. The histopathological examinations of eyelid tumor supported the diagnosis of mycosis fungoides. The mycosis fungoides was stage as IIB (T3N0M0B0) by TNMB classifications and referred to the Hematology and Radiation Oncology clinics. The importance of ophthalmic involvement is being seen in advanced or refractory cases, and there is a possible relation between mycosis fungoides and poor prognosis by being an early indicator of systemic involvement.
Assuntos
Neoplasias Palpebrais/diagnóstico , Neoplasias Palpebrais/cirurgia , Micose Fungoide/diagnóstico , Micose Fungoide/cirurgia , Diagnóstico Diferencial , Neoplasias Palpebrais/patologia , Evolução Fatal , Humanos , Masculino , Pessoa de Meia-Idade , Micose Fungoide/patologia , Estadiamento de NeoplasiasRESUMO
Laser is the most efficient and popular method in hair removal. The most common side effects of laser assisted hair removal are pain, erythema, edema, hypopigmentation, hyperpigmentation, blistering, crusting, erosions, purpura, folliculitis, and scar formation ( 1 ). Herein, for the first time we describe a case of lichen sclerosus (LS) following hair removal with long pulsed 1064 nm Nd:YAG laser therapy.
Assuntos
Técnicas Cosméticas/efeitos adversos , Remoção de Cabelo/efeitos adversos , Lasers de Estado Sólido/efeitos adversos , Líquen Escleroso e Atrófico/etiologia , Terapia com Luz de Baixa Intensidade/efeitos adversos , Adulto , Feminino , Remoção de Cabelo/métodos , Humanos , Lasers de Estado Sólido/uso terapêutico , Terapia com Luz de Baixa Intensidade/métodosAssuntos
Hidradenite Supurativa , Poroceratose , Humanos , Hidradenite Supurativa/complicações , Hidradenite Supurativa/tratamento farmacológico , Poroceratose/tratamento farmacológico , Poroceratose/genética , Proteína Antagonista do Receptor de Interleucina 1/uso terapêutico , Proteína Antagonista do Receptor de Interleucina 1/genética , Pele , Mutação , Pirina/genéticaRESUMO
BACKGROUND: Imiquimod 5% topical cream is approved for treatment of superficial basal cell carcinoma (BCC). Data on the long-term efficacy and usage in other BCC subtypes are scarce. OBJECTIVE: Evaluation of long-term safety and efficacy of topical imiquimod treatment in various BCC subtypes and locations, with individualized treatment duration. MATERIALS AND METHODS: Histopathologically confirmed BCCs treated solely with topical imiquimod were identified retrospectively and included in this study. Clinical and histopathologic tumor clearances were the primary end point. After treatment was concluded, patients were examined every 3 to 6 months. RESULTS: In total, 24 BCC samples from 22 patients (F:M = 9:13; mean age: 73.5 years, SD: 10.767) were evaluated. The majority of the lesions were located in the head and neck area (83%). Mean treatment duration until complete clearance was 15.7 ± 6.9 weeks (6-28 weeks). Imiquimod was discontinued in 3 lesions, due to either clinically or histopathologically insufficient response. During follow-up, 2 lesions recurred, at 42 and 50 months after treatment. During a mean follow-up time of 72.7 (SD = 9) months, 79.1% of the lesions were cured without local recurrence. CONCLUSION: Although imiquimod is only approved for superficial BCC, treatment success was high among the study patients with various histological subtypes, with good long-term cosmetic results.
Assuntos
Aminoquinolinas/administração & dosagem , Antineoplásicos/administração & dosagem , Carcinoma Basocelular/tratamento farmacológico , Neoplasias Cutâneas/tratamento farmacológico , Administração Cutânea , Idoso , Idoso de 80 Anos ou mais , Aminoquinolinas/efeitos adversos , Antineoplásicos/efeitos adversos , Carcinoma Basocelular/patologia , Feminino , Seguimentos , Humanos , Imiquimode , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Estudos Retrospectivos , Creme para a Pele/administração & dosagem , Neoplasias Cutâneas/patologia , Fatores de TempoRESUMO
H syndrome (OMIM 602782) is a very rare autosomal recessive genodermatosis with multisystem involvement. Hallmarks of this disorder are juvenile onset and progressive, hyperpigmented, hypertrichotic lesions with histiocytic infiltration. Associated systemic manifestations form a long list, and there is high variability between patients. In some patients, dysmorphic and other systemic features may be so subtle that the disorder may readily be mistaken as an acquired skin disease and treated as such. Herein, we report a novel homozygous c.1339G>A (p.Glu447Lys) mutation in the SLC29A3 gene in a patient with skin-dominant presentation of H syndrome. Additionally, due to the present case, double superior vena cava can be added to the list of possible cardiovascular manifestations of H syndrome.