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BACKGROUND: Birt-Hogg-Dubé (BHD) syndrome is a rare genetic syndrome caused by pathogenic or likely pathogenic germline variants in the FLCN gene. Patients with BHD syndrome have an increased risk of fibrofolliculomas, pulmonary cysts, pneumothorax and renal cell carcinoma. There is debate regarding whether colonic polyps should be added to the criteria. Previous risk estimates have mostly been based on small clinical case series. METHODS: A comprehensive review was conducted to identify studies that had recruited families carrying pathogenic or likely pathogenic variants in FLCN. Pedigree data were requested from these studies and pooled. Segregation analysis was used to estimate the cumulative risk of each manifestation for carriers of FLCN pathogenic variants. RESULTS: Our final dataset contained 204 families that were informative for at least one manifestation of BHD (67 families informative for skin manifestations, 63 for lung, 88 for renal carcinoma and 29 for polyps). By age 70 years, male carriers of the FLCN variant have an estimated 19% (95% CI 12% to 31%) risk of renal tumours, 87% (95% CI 80% to 92%) of lung involvement and 87% (95% CI 78% to 93%) of skin lesions, while female carriers had an estimated 21% (95% CI 13% to 32%) risk of renal tumours, 82% (95% CI 73% to 88%) of lung involvement and 78% (95% CI 67% to 85%) of skin lesions. The cumulative risk of colonic polyps by age 70 years old was 21% (95% CI 8% to 45%) for male carriers and 32% (95% CI 16% to 53%) for female carriers. CONCLUSIONS: These updated penetrance estimates, based on a large number of families, are important for the genetic counselling and clinical management of BHD syndrome.
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Síndrome de Birt-Hogg-Dubé , Carcinoma de Células Renais , Pólipos do Colo , Neoplasias Renais , Humanos , Masculino , Feminino , Idoso , Síndrome de Birt-Hogg-Dubé/genética , Síndrome de Birt-Hogg-Dubé/patologia , Penetrância , Proteínas Proto-Oncogênicas/genética , Proteínas Supressoras de Tumor/genética , Neoplasias Renais/epidemiologia , Neoplasias Renais/genética , Carcinoma de Células Renais/epidemiologia , Carcinoma de Células Renais/genéticaRESUMO
Onychomatricoma is a slow-growing, benign neoplasm of the nail matrix with several histological variants. With only 2 cases previously reported, the term "myxoid onychomatricoma" has been used by some authors to describe a rare variant, known to have a fibromixoid component. We present a case of a 51-year-old Caucasian woman with a 1-year history of thickening and discoloration of the right thumbnail, who was initially misdiagnosed as onychomycosis. After performing a magnetic resonance imaging that showed a tumor with several filamentous projections, an onychomatricoma was suspected and a total distal plaque avulsion was performed. Histology revealed a biphasic tumor with an epithelial component and a prominent myxoid stroma. Immunohistochemical staining was then used, confirming the diagnosis. Considering these findings, we believe that our case meets the diagnostic description of "myxoid onychomatricoma" and is, therefore, a new case of this rare histological variant.
Assuntos
Doenças da Unha/patologia , Neoplasias Cutâneas/patologia , Erros de Diagnóstico , Feminino , Humanos , Pessoa de Meia-Idade , Onicomicose/diagnósticoAssuntos
COVID-19/psicologia , Medo/psicologia , Comportamento Sexual/psicologia , Infecções Sexualmente Transmissíveis/psicologia , Adolescente , Adulto , COVID-19/epidemiologia , COVID-19/prevenção & controle , Estudos Transversais , Humanos , Masculino , Pessoa de Meia-Idade , Portugal/epidemiologia , SARS-CoV-2 , Comportamento Sexual/estatística & dados numéricos , Saúde Sexual/estatística & dados numéricos , Infecções Sexualmente Transmissíveis/epidemiologia , Infecções Sexualmente Transmissíveis/prevenção & controle , Inquéritos e Questionários , Centros de Atenção Terciária , Adulto JovemRESUMO
Dermoscopy can be applied to fixed tissues, and dermoscopic patterns correlate with microscopic findings. Data on the influence of ex vivo dermoscopy on pathologic diagnosis of melanocytic lesions are limited. Therefore, we aimed to determine whether this technique could aid on the histopathological evaluation of melanocytic neoplasms. Sequential cutaneous excisional biopsies of melanocytic lesions and their corresponding ex vivo dermoscopic images were prospectively analyzed. Additional sectioning was executed in areas of dermoscopic concern, having, by reference, a dermoscopic mapping of the sectioned specimens. Diagnostic differences before and after analyzing the new dermoscopy-guided sections were registered. A total of 564 melanocytic lesions were examined, and additional cuts were considered necessary in 84 (14.9%) cases. Of these, 11 lesions (13.1%) had a different final diagnosis after dermoscopy-guided specimen sectioning, including 3 lesions that were reclassified as melanomas and 2 melanomas that were restaged. We found that the combined use of ex vivo dermoscopy and histopathology improves clinical-pathological correlation and allows selection of representative areas for sectioning. Altogether, this technique may improve diagnostic confidence and accuracy in the histopathological evaluation of melanocytic lesions.
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Citodiagnóstico/métodos , Dermoscopia/métodos , Melanoma/diagnóstico , Neoplasias Cutâneas/diagnóstico , HumanosAssuntos
Queilite/etiologia , Lábio/patologia , Lúpus Eritematoso Discoide/complicações , Idoso , Anticorpos Antinucleares/imunologia , Antirreumáticos/administração & dosagem , Antirreumáticos/uso terapêutico , Queilite/diagnóstico , Queilite/tratamento farmacológico , Feminino , Humanos , Hidroxicloroquina/administração & dosagem , Hidroxicloroquina/uso terapêutico , Lúpus Eritematoso Discoide/diagnóstico , Lúpus Eritematoso Discoide/tratamento farmacológico , Lúpus Eritematoso Discoide/imunologia , Fator de Proteção Solar/métodos , Resultado do TratamentoAssuntos
Doenças da Unha/complicações , Doenças da Unha/patologia , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/patologia , Vitiligo/complicações , Vitiligo/patologia , Feminino , Humanos , Masculino , Doenças da Unha/diagnóstico , Doenças da Unha/cirurgia , Prognóstico , Medição de Risco , Índice de Gravidade de Doença , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/cirurgia , Vitiligo/diagnósticoAssuntos
Carcinoma in Situ , Imunoterapia/efeitos adversos , Infecções por Mycobacterium , Mycobacterium bovis , Doenças do Pênis , Neoplasias Uretrais , Idoso , Carcinoma in Situ/microbiologia , Carcinoma in Situ/terapia , Humanos , Masculino , Infecções por Mycobacterium/etiologia , Infecções por Mycobacterium/microbiologia , Infecções por Mycobacterium/patologia , Doenças do Pênis/etiologia , Doenças do Pênis/microbiologia , Doenças do Pênis/patologia , Neoplasias Uretrais/microbiologia , Neoplasias Uretrais/patologia , Neoplasias Uretrais/terapiaRESUMO
Background: A retronychia classification system is overdue considering the most recent publications. Using the keyword "retronychia", publications with a narrative literature review were selected from PubMed/MEDLINE, EMBASE and Google Scholar, adding a few select papers. Summary: This article proposes a theoretical pathophysiological basis for retronychia. Several factors alter the clinical picture of retronychia: length and periodicity of backward displacement, duration of disease, intensity of paronychia, presence and type of nail stacking (polymeronychia), and remodeling of the nail apparatus (elevation of the proximal nail, nail bed shortening, retroversion of the distal nail fold and acquired malalignment). Key Messages: With these factors in mind, we propose a new classification system for retronychia: A standing for acute, O for ongoing, and C for chronic. We believe this easy system may increase the diagnostic acuity for the disease and its understanding.
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The vast majority of tumors in the nail apparatus have a different clinical presentation and course from their equivalents on the skin. Some, such as onychomatricoma and onychopapilloma, are unique to the nail and others, such as superficial acral fibromyxoma, have a tropism for the nail apparatus. As a rule, benign lesions respect the general architecture of the nail apparatus, whereas malignant tumors are destructive. Treatment is always surgical and good knowledge of the anatomy and the procedures is mandatory in order not to induce postoperative nail dystrophy.
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Doenças da Unha , Humanos , Doenças da Unha/cirurgia , Doenças da Unha/patologia , Neoplasias Cutâneas/cirurgia , Neoplasias Cutâneas/patologiaRESUMO
Background: Onychoscopy is a noninvasive method helpful in diagnosing nail disorders. The aim of the study was to review literature on the usability of onychoscopy in nail psoriasis, nail lichen planus, and nail lichen striatus. Summary: Onychoscopic features of nail psoriasis are pitting, onycholysis with erythematous border, salmon patches, splinter hemorrhages, dotted vessels in lateral and proximal folds, and hyponychium. Onychoscopic features of nail lichen planus are onychorrhexis, onycholysis, longitudinal melanonychia, and red lunula. The literature on the usability of onychoscopy in nail lichen striatus is scarce. Keynotes: Onychoscopy facilitates evaluation of nail abnormalities compared to the clinical examination. Lunular alterations, salmon patches, erythematous border of onycholysis as well as splinter hemorrhages in nail psoriasis are better visualized with onychoscopy compared to the naked eye. Onychoscopy enhances detection of melanonychia, dyschromia, and lunular changes in nail lichen planus. Onychoscopic features are different in fingernails and toenails.
Onychoscopy (nail dermoscopy) is a noninvasive method used in diagnosing of nail disorders. In this review, we evaluated if onychoscopy may be helpful in diagnosing inflammatory nail disorders such as psoriasis, lichen planus, and lichen striatus. Nail psoriasis can be characterized with the presence of pitting, salmon patches, splinter hemorrhages, onycholysis with or without erythematous border and dilated vessels in the hyponychium on onychoscopy. Onychoscopy of nail lichen planus shows the presence of longitudinal ridging and splitting (onychorrhexis), splinter hemorrhages, longitudinal melanonychia as well as red lunula (distal part of nail matrix). The data on onychoscopy in nail lichen striatus are scarce. Onychoscopy is a helpful tool in visualization of nail abnormalities, with most of the features better visualized with onychoscopy compared to the naked eye.
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Hair and scalp disorders in children may originate from the hair itself, scalp skin, or infectious causes and be congenital or acquired. The most common sign is alopecia, frequently brought on by tinea capitis, patchy alopecia areata, or trichotillomania. Sometimes less frequent and clinically more elusive conditions such as initial androgenetic alopecia, congenital triangular alopecia, or alopecia areata incognita may be responsible for hair loss. The noninvasive technique known as trichoscopy is being used more frequently, aiding in the prompt differential diagnosis and follow-up of many of these diseases, oftentimes providing further examination before a treatment decision is made. This review of trichoscopy of the main scalp and hair disorders afflicting children and adolescents discusses the most important dermoscopic criteria and the usefulness of this technique.
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Dermoscopia/métodos , Doenças do Cabelo/diagnóstico , Cabelo/patologia , Dermatoses do Couro Cabeludo/diagnóstico , Couro Cabeludo/patologia , Adolescente , Criança , Diagnóstico Diferencial , Doenças do Cabelo/patologia , Humanos , Dermatoses do Couro Cabeludo/patologiaAssuntos
Vacina Quadrivalente Recombinante contra HPV tipos 6, 11, 16, 18/efeitos adversos , Vacinas contra Papillomavirus/efeitos adversos , Pseudolinfoma/induzido quimicamente , Dermatopatias/induzido quimicamente , Adulto , Betametasona/análogos & derivados , Betametasona/uso terapêutico , Feminino , Vacina Quadrivalente Recombinante contra HPV tipos 6, 11, 16, 18/administração & dosagem , Humanos , Injeções Intralesionais , Injeções Intramusculares , Imageamento por Ressonância Magnética , Pseudolinfoma/diagnóstico , Pseudolinfoma/tratamento farmacológico , Doenças Raras , Dermatopatias/diagnóstico , Dermatopatias/tratamento farmacológicoRESUMO
Scleredema of Buschke is a rare connective tissue disease with a poorly understood pathogenesis. Three types of scleredema have been distinguished according to its association with preceding or underlying conditions. Type 1 is usually secondary to a febrile infection, type 2 is mostly associated with paraproteinemia and type 3, usually named scleredema diabeticorum, has a strict association with Diabetes mellitus. A diffuse, non-pitting swelling and induration of the skin define this disease. The skin histology is characterized by a normal or slightly thinned epidermis, and the dermis containing a decreased number of elastic fibers and thick large swollen collagen bundles separated by mucopolysaccharide deposits in the deep reticular dermis. In this report we present a 58-year-old man with scleredema diabeticorum controlled with a topical steroid cream and an optimization of glycemic control. We reviewed clinical, histopathological characteristics and the various possible treatments.
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We report the case of a 42-year-old woman with rheumatoid arthritis undergoing treatment with subcutaneous tocilizumab for the past 6 months. Three days after the administration, an asymptomatic inflammatory annular plaque of 4 cm with discrete whitish scales at the inner border margin developed at the injection site in the left iliac fossa. A smaller plaque in the left groin appeared soon after. The mycological exam was negative. Histology showed a lymphoplasmacytic superficial and deep perivascular, and periadnexal, dermal infiltrate, without epidermal changes. Lesions spontaneously regressed in 4 months. The diagnosis was clinically and histologically consistent with erythema annulare centrifugum, following the exclusion of other differential diagnoses. Erythema annulare centrifugum represents a delayed-type hypersensitivity reaction generally considered idiopathic or otherwise related to numerous triggers, including drugs such as biologics. We describe the first reported case of tocilizumab-induced erythema annulare centrifugum. This case should alert dermatologists to this relatively rare and complex entity and should raise awareness to cutaneous biologic drug reactions.
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Dermatitis Cruris Pustulosa et Atrophicans (DCPA) was first described in 1952 in Nigeria and is nowadays regarded as a type of chronic folliculitis of tropical areas. It is often limited to the lower limbs of young adults, mostly in the second to third decades, with a unique clinical picture characterized by chronicity, relentless progression, therapy refractoriness, and permanent cicatricial changes. Trauma, occlusion, and microorganism selection contribute for its etiopathogenesis, which is deemed multifactorial but still incompletely understood. Despite its conspicuous clinical features, awareness of DCPA is apparently low, hence probably overlooked. We herein summarize the current state of knowledge regarding this distinct entity, and further present the first report in a patient from Bangladesh, and concurrently the first in Europe. Paucity of data, and unraveled definite etiology and treatment, highlight the need for further studies.