RESUMO
BACKGROUND: Aplasia cutis congenita (ACC) is a heterogeneous condition that can be associated with fetus papyraceus. Few reports exist documenting genetic investigations in ACC or determining the etiology and recurrence risks. OBJECTIVE: We present a Frieden group 5 ACC with fetus papyraceus along with molecular studies. RESULTS: The newborn had multifocal aplasia cutis congenita involving the head, trunk, and limbs with cerebral ischemic changes demonstrated by imaging. The newborn had a monochorionic twin fetus papyraceus. The array cytogenetic analysis was normal. CONCLUSION: Supported by the ischemic cerebral damage, a monochorionic twin fetus papyraceus (monochorionic twins often have vascular anastomoses), and a normal cytogenetic array, this ACC with Frieden group 5 may have resulted from rapid but non-fatal exsanguination of the surviving twin into the dead twin. This type of ACC may have a low recurrence risk.
Assuntos
Isquemia Encefálica/congênito , Doenças em Gêmeos/patologia , Displasia Ectodérmica/patologia , Adulto , Feminino , Morte Fetal , Feto , Humanos , Recém-Nascido , Masculino , Gravidez , Gravidez de Gêmeos , Gêmeos MonozigóticosRESUMO
A 12-year-old girl with extended oligoarthritis treated with adalimumab presented with a short history of a progressive cutaneous eruption involving the legs and scalp. Physical examination and histologic results were consistent with lichen planopilaris. The adalimumab was discontinued. She received treatment with topical clobetasol propionate and the majority of the lesions resolved. Residual lesions and the extended oligoarthritis were then treated with sulfasalazine. Adalimumab is a tumor necrosis factor α (TNF-α) inhibitor used for the treatment of a variety of immunologically mediated conditions, including lichen planus and lichen planopilaris. TNF-α antagonists have been associated with paradoxical psoriasiform, lichenoid, eczematous, granulomatous, and acneiform eruptions. We detail this case and review the literature of lichenoid reactions secondary to TNF-α inhibitors.
Assuntos
Adalimumab/efeitos adversos , Líquen Plano/induzido quimicamente , Fator de Necrose Tumoral alfa/antagonistas & inibidores , Criança , Feminino , HumanosRESUMO
Background: Pregnant women with SARS-CoV-2 infection experience higher rates of stillbirth and preterm birth. A unique pattern of chronic histiocytic intervillositis (CHI) and/or massive perivillous fibrin deposition (MPFD) has emerged, coined as SARS-CoV-2 placentitis. Methods: The aim of this study was to describe a cohort of placentas diagnosed with SARS-CoV-2 placentitis during October 2020-March 2021. Cases with a histological diagnosis of SARS-CoV-2 placentitis and confirmatory immunohistochemistry were reported. Maternal demographic data, pregnancy outcomes and placental findings were collected. Findings: 59 mothers delivered 61 infants with SARS-CoV-2 placentitis. The gestational age ranged from 19 to 41 weeks with most cases (78.6%) being third trimester. 30 infants (49.1%) were stillborn or late miscarriages. Obese mothers had higher rates of pregnancy loss when compared with those with a BMI <30 [67% (10/15) versus 41% (14/34)]. 47/59 (79.7%) mothers had a positive SARS-CoV-2 PCR test either at the time of labour or in the months before, of which 12 (25.5%) were reported to be asymptomatic. Ten reported only CHI, two cases showed MPFD only and in 48 placentas both CHI and MPFD was described. Interpretation: SARS-CoV2 placentitis is a distinct entity associated with increased risk of pregnancy loss, particularly in the third trimester. Women can be completely asymptomatic and still experience severe placentitis. Unlike 'classical' MPFD, placentas with SARS-CoV-2 are generally normal in size with adequate fetoplacental weight ratios. Further work should establish the significance of the timing of maternal SARS-CoV-2 infection and placentitis, the significance of SARS-CoV2 variants, and rates of vertical transmission associated with this pattern of placental inflammation. Funding: There was not funding associated with this study.
RESUMO
We report a case in which a vaginal adenocarcinoma was discovered in a 67-year-old woman 16 years after hysterectomy for cervical adenocarcinoma in situ. Both the vaginal and cervical lesions exhibited morphologic and immunohistochemical (CDX2-positive) features of intestinal differentiation. Linear array human papillomavirus genotyping demonstrated the vaginal adenocarcinoma to contain human papillomavirus 45. We believe the vaginal adenocarcinoma to be related to the cervical adenocarcinoma in situ and to represent recurrence of this. This is an extremely rare phenomenon with, as far as we are aware, only one previous report in the literature.
Assuntos
Adenocarcinoma/patologia , Recidiva Local de Neoplasia/patologia , Displasia do Colo do Útero/patologia , Neoplasias do Colo do Útero/patologia , Neoplasias Vaginais/patologia , Adenocarcinoma/metabolismo , Adenocarcinoma/virologia , Idoso , Feminino , Humanos , Histerectomia , Imuno-Histoquímica , Recidiva Local de Neoplasia/metabolismo , Recidiva Local de Neoplasia/virologia , Infecções por Papillomavirus/complicações , Neoplasias do Colo do Útero/metabolismo , Neoplasias do Colo do Útero/cirurgia , Neoplasias Vaginais/metabolismo , Neoplasias Vaginais/virologia , Displasia do Colo do Útero/metabolismo , Displasia do Colo do Útero/virologiaRESUMO
This report presents a girl with a lipoblastoma of a finger presenting as a macrodactyly. Documented inflammation of the digit at birth raises suspicion of neo-adipogenesis, which is recognised in lipomas. This case highlights a rare site for lipoblastomas and explores a potential aetiopathogenesis.
Assuntos
Dedos/patologia , Deformidades Congênitas da Mão/cirurgia , Lipoblastoma/cirurgia , Adipogenia , Pré-Escolar , Feminino , Dedos/diagnóstico por imagem , Dedos/fisiopatologia , Deformidades Congênitas da Mão/diagnóstico por imagem , Deformidades Congênitas da Mão/patologia , Deformidades Congênitas da Mão/fisiopatologia , Humanos , Hipertrofia , Lipoblastoma/diagnóstico por imagem , Lipoblastoma/patologia , Lipoblastoma/fisiopatologia , RadiografiaRESUMO
Metastatic tumors within the cervix are uncommon if one excludes endometrial carcinoma, which involves the cervix by direct spread. A variety of other neoplasms rarely metastasize to the cervix and, in most cases, the diagnosis is straightforward because of a combination of clinical and pathologic parameters, common features of metastatic carcinoma within the cervix including predominant involvement of the deep stroma, absence of surface involvement and of an in situ component, and prominent lymphovascular permeation. We describe 6 cases of metastatic adenocarcinoma involving the cervix with superficial "mucosal" involvement mimicking primary cervical adenocarcinoma or adenocarcinoma in situ. In 5 cases, the primary adenocarcinoma was in the ovary or peritoneum and was of serous (4 cases) or clear-cell (1 case) type. In the other case, the primary neoplasm was in the pancreas and this was initially interpreted as a primary cervical adenocarcinoma. In the cases of primary ovarian or peritoneal carcinoma, the mucosal tumor within the cervix, which was discovered at the same time as the ovarian or peritoneal neoplasm, raised the possibility of synchronous independent lesions or metastasis from the cervix to the ovary or peritoneum. Positive staining for WT1, p53, and estrogen receptor in the cases of serous carcinoma and an absence of human papillomavirus by linear array genotyping in all cases was of value in excluding a primary cervical neoplasm, although these ancillary studies are supplementary to microscopic examination. In those cases with an ovarian or peritoneal primary, the likely pathogenesis of the cervical involvement is transtubal and intrauterine spread. It is important for the pathologist to be aware of the possibility of cervical mucosal metastasis to avoid an erroneous diagnosis of a primary cervical adenocarcinoma or adenocarcinoma in situ.