Journal of Cutaneous PathologyIntraepidermal epidermotropic metastatic melanoma: a clinical and histopathological mimicker of melanoma in situ occurring in multiplicityThe distinction between primary melanoma and melanoma metastatic to the skin has major prognostic implications. We report a case of a 67-year-old male with a diagnosis of a superficial spreading melanoma (stage IB) rendered 6 years earlier who presented clinically with an atypical nevus on his left thigh. Histopathological examination showed an intraepidermal melanocytic proliferation that was interpreted as melanoma in situ. Subsequently, 45 additional pigmented macules appeared in crops over a 9-month period. Clinically and dermoscopically, these lesions were extremely polymorphic. Histopathological findings were compatible with melanoma in situ, as each lesion consisted of a wholly intraepidermal proliferation of markedly atypical melanocytes arranged singly and in nests. A complete gastrointestinal study showed multiple pigmented metastatic lesions throughout the stomach and small bowel, which supported a diagnosis of metastatic melanoma with gastrointestinal and epidermotropic skin involvement. Monosomy of chromosome 9 and a BRAF V600E mutation were detected in the primary tumor sample and in macro-dissected secondary lesions. No CDKN2A or CDK4 germline mutations were found. Intraepidermal epidermotropic metastases of melanoma have been rarely described in literature. In this case, histopathology alone was insufficient to distinguish metastatic melanoma from multiple in situ melanomas. The recognition of epidermotropic metastases should be based on the correlation between clinical, dermoscopic, histopathological and molecular findings.
Dyskeratosis congenital is reported in two siblings. They presented with the classic triad of mucocutaneous features: leukoplakia of the tongue, dystrophic nails, and a widespread reticulate pigmentation on the neck and upper chest. A genetic analysis was performed and a new missense mutation S356P, hemizygous, was identified in the DKC1 gene in both patients. Acitretin was started at a low-dose in both patients, resulting in clinical improvement and important, positive psychosocial effects.
A 45-year-old woman with a history of renal carcinoma was observed for facial,
cervical and truncal flesh-colored papules. Relatives had similar skin findings and a
brother had repeated episodes of pneumothorax. The computerized tomography scan
revealed multiple cysts on both lungs. A skin biopsy revealed a perifollicular
fibroma. The clinical diagnosis of Birt-Hogg-Dubé syndrome (BHDS) was corroborated by
identification of a novel frameshift c.573delGAinsT (p.G191fsX31) mutation in
heterozygosity on exon 6 of the folliculin gene. The presence of multiple and typical
benign hair follicle tumors highlights the role of the dermatologist in the diagnosis
of this rare genodermatosis that is associated with an increased risk of renal cell
cancer and pulmonary cysts, warranting personal and familial follow-up and
counseling.
Blastic plasmacytoid dendritic cell neoplasm is a rare and aggressive hematodermic
neoplasia with frequent cutaneous involvement and leukemic dissemination. We report
the case of a 76-year-old man with a 2 month history of violaceous nodules and a
tumor with stony consistency, located on the head, and mandibular, cervical and
supraclavicular lymphadenopathies. Multiple thoracic and abdominal adenopathies were
identified on computerized tomography. Flow cytometry analysis of the skin, lymph
node and bone marrow biopsies demonstrated the presence of plasmocytoid dendritic
cell neoplastic precursor cells (CD4+, CD45+, CD56+ and CD123+ phenotype). After
initial clinical and laboratorial complete remission with chemotherapy, the patient
died due to relapse of the disease associated with the appearance of a cervical mass
with medullary compromise.
Herpes simplex virus type 2 (HSV-2) infections are frequent in HIV (human immunodeficiency virus) infected patients. In those cases, genital herpes may have an atypical clinical presentation. Hypertrophic and vegetating variants are unusual. The authors describe a case of hypertrophic perianal herpes in an HIV patient with unsatisfactory response to acyclovir and valacyclovir, successfully treated with imiquimod. Hypertrophic genital herpes cases are frequently refractory to antiviral treatments. In our experience, imiquimod is an efficient, safe and well tolerated treatment that should be considered in therapeutic approach of these patients. Keywords: Antiviral agents; Combined modality therapy; Efficacy; Herpes genitalis; Herpesvirus 2, human Resumo: A infecção pelo vírus herpes simples tipo 2 (HSV-2) é frequente em pacientes infetados pelo vírus de imunodeficiência adquirida (VIH). Nestes casos, o herpes genital pode ter uma apresentação clínica atí-pica. As variantes hipertróficas e vegetantes são pouco habituais. Os autores relatam um caso de herpes hipertrófico perianal em paciente infetada pelo VIH, com resposta insatisfatória ao aciclovir e valaciclovir, tratado eficazmente com imiquimod tópico. O herpes genital hipertrófico é, frequentemente, refratário aos tratamentos antivirais. Na nossa experiência, o imiquimod é um tratamento eficaz, seguro e bem tolerado que deverá ser considerado na abordagem terapêutica destes pacientes.
Nails have a limited number of reactive patterns to disease. Accordingly, toenail
changes of different etiologies may mimic onychomycosis. OBJECTIVETo determine the prevalence of toenail onychomycosis among patients with leg
ulcer and toenail abnormalities attending a dermatology clinic.METHODSA cross-sectional study was conducted through the analysis of clinical
records and results of mycological examination.RESULTSA total of 81 patients were included, with a median age of 76.0 years. Most
ulcers were of venous etiology, followed by those of mixed and arterial
pathogenesis. The mycological evaluation confirmed the diagnosis of
onychomycosis in 27.2% of the patients. The etiologic agent was a
dermatophyte in 59.1% of isolates in nail samples, while Trichophyton
interdigitale was the most frequent fungal species (40.9%). CONCLUSIONSMost toenail abnormalities in patients with chronic leg ulcer were not
onychomycosis. This study highlights the importance of systematic
mycological examination in these patients, in order to avoid overtreatment
with systemic antifungals, unnecessary costs and side effects.
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