RESUMO
We describe a patient with a "saxophone penis" mistakenly diagnosed as having posttraumatic changes. A careful history and attention to blood tests at presentation may have alerted clinicians that there was a nontraumatic cause for our patient's disease. It is essential that clinicians consider "metastatic" anogenital Crohn's disease as a possible cause of "saxophone penis".
Assuntos
Doença de Crohn/complicações , Linfedema/etiologia , Doenças do Pênis/etiologia , Pênis/patologia , Adolescente , Colonoscopia , Doença de Crohn/diagnóstico , Erros de Diagnóstico , Humanos , Linfedema/diagnóstico , Masculino , Doenças do Pênis/diagnósticoRESUMO
The clinical and histopathological features of herpes zoster (HZ) are usually straightforward. Atypical histological presentations, in the absence of the classical viral cytopathic changes, are well documented and can make the diagnosis of HZ extremely difficult. Herein, we review the existing literature on atypical cutaneous histological manifestations of the disease, with emphasis on the subtle clues, use of immunohistochemistry, and potential pitfalls.
Assuntos
Herpes Zoster , Herpesvirus Humano 3 , Pele , Herpes Zoster/patologia , Herpes Zoster/virologia , Humanos , Pele/patologia , Pele/virologia , Imuno-HistoquímicaRESUMO
Digital papillary adenocarcinoma (DPA) is a rare sweat gland neoplasm that has exceptionally been reported outside acral locations. Recently, human papillomavirus 42 was identified as the main oncogenic driver of DPA. Herein, we report 5 tumors arising in extra-acral locations predominantly in the female anogenital skin. Four patients were female and 1 patient was male. The mean age at the diagnosis time was 65 years (range: 55 to 82 y). Tumors were located on the vulva (n=3), perianal area (n=1), and forearm (n=1). Histologically, all tumors were lobular and mainly solid and composed of sheets of cells with rare focal papillae and frequent glandular structures in a "back-to-back" pattern and lined by atypical basophilic cells. Immunohistochemistry showed diffuse positivity for SOX10. Epithelial membrane antigen and carcinoembryonic antigen highlighted the luminal cells and staining for p63 and p40 revealed a consistent and continuous myoepithelial component around glandular structures. Follow-up was available in 3 cases (mean duration: 12 mo [range: 8 to 16 mo]). One patient developed local recurrence and 1 experienced regional lymph node metastases. HPV Capture Next-generation sequencing revealed the presence of the HPV42 genome in all samples. Viral reads distributions were compatible in the 5 cases with an episomal nature of the viral genome, with a recurrent deletion in the E1 and/or E2 open reading frames. In conclusion, this study demonstrates that digital DPA may rarely present in nonacral locations mainly in the female anogenital area, usually with a more solid pattern as compared with those cases presenting on the digits and it is also associated with HPV42.
Assuntos
Adenocarcinoma Papilar , Neoplasias Ósseas , Neoplasias da Mama , Neoplasias de Tecido Conjuntivo , Neoplasias das Glândulas Sudoríparas , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Neoplasias das Glândulas Sudoríparas/química , Biomarcadores Tumorais/genética , Adenocarcinoma Papilar/patologiaRESUMO
Melanocytic lesions in the nail apparatus are often challenging. Both subungual melanomas (SUM) and blue naevus of the nail are very rare. Occasionally, melanomas may mimic blue naevus histologically. Benign and malignant blue melanocytic lesions are commonly associated with G protein mutations, a distinct abnormality not associated with conventional subungual melanomas. We describe the clinical, histological and immunohistochemical features of nine cases of SUM with blue naevus-like morphological features. Mutations in exon 4 and 5 of GNAQ and GNA11 were investigated in two cases, which showed no mutations. RNA-seq of one case revealed unknown mutations along with mutations in ATM, METK and ARID1A. Our study delineates a variant of SUM that mimics blue naevus. Awareness of this pitfall is important when evaluating heavily pigmented lesions around the nail in order to avoid misdiagnosis. Appropriate sampling of subungual lesions and clinicopathological correlation are paramount to reach the correct diagnosis.
Assuntos
Melanoma , Doenças da Unha , Nevo Azul , Neoplasias Cutâneas , Diagnóstico Diferencial , Humanos , Melanoma/diagnóstico , Melanoma/genética , Melanoma/patologia , Doenças da Unha/diagnóstico , Doenças da Unha/patologia , Nevo Azul/diagnóstico , Nevo Azul/genética , Estudos Retrospectivos , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologiaRESUMO
Sarcoidosis is a multisystem granulomatous disease, with cutaneous involvement in up to 35% of cases. Owing to its heterogeneous clinical presentation, sarcoidosis is often referred to as the 'great imitator' of dermatological disease. A rare variant of photosensitive cutaneous sarcoidosis has been infrequently reported in the literature. We describe an unusual case of recurrent, photo-distributed cutaneous sarcoidosis presenting only during the summer months.
Assuntos
Transtornos de Fotossensibilidade/patologia , Sarcoidose/patologia , Estações do Ano , Feminino , Humanos , Pessoa de Meia-Idade , Transtornos de Fotossensibilidade/tratamento farmacológico , Sarcoidose/tratamento farmacológicoRESUMO
Squamoid eccrine ductal carcinoma is a poorly documented skin adnexal carcinoma showing squamous and duct differentiation. It is regarded to be of low-grade malignant potential, but limited follow-up information is available. To study their clinical behavior and histologic features, 30 squamoid eccrine ductal carcinomas were identified from departmental and referral files. Hematoxylin and eosin-stained sections were reviewed, and immunohistochemistry for carcinoembryonic antigen and epithelial membrane antigen was examined to confirm duct differentiation. Clinical follow-up was obtained from patient records and referring pathologists. The tumors presented as nodules or plaques (median size, 1.0 cm; range, 0.5 to 2.5 cm) with a predilection for the head and neck (77%). The patients were elderly (median age, 79.5 y; range, 10 to 96 y) with a male predominance. Histologically, these poorly demarcated tumors were characterized by an infiltrative growth pattern within the dermis and additional invasion of subcutis in 70%. Median tumor thickness was 4.3 mm (range, 1.5 to 18 mm). Superficially, the tumors resembled well-differentiated squamous cell carcinoma. In the deeper reaches, they were organized in cords and strands showing duct differentiation in a desmoplastic stroma. Cytologic atypia was moderate to severe. Ulceration (47%), necrosis (23%), and perineural and lymphovascular infiltration (27% and 6%, respectively) were additional features. Follow-up data (median, 29 mo; range, 7 to 99), available for 24 patients (80%), revealed a local recurrence rate of 25%. Three patients had lymph node metastasis, and 1 patient died of metastatic disease. Our study outlines the histologic characteristics of squamoid eccrine carcinoma and emphasizes its clinical behavior with risk for local recurrence and potential for more aggressive behavior with metastasis and rare disease-related mortality.