Sister Mary Joseph nodule due to carcinosarcoma

The Sister Mary Joseph Nodule is an eponymous term which describes a palpable umbilical nodule occurring as a result of metastasis of an intra-abdominal or pelvic malignancy. In approximately 50% of cases, this sign is associated with gastrointestinal malignancies. These include gastric, colonic and pancreatic (mainly body and tail) carcinoma. Gastrointestinal malignancy is found in 52% of the metastatic cases and gynecologic and genitourinary origin in 28%, with gastric and ovarian cancers being the most common. The next report is about a 62 year-old woman whose was referred to the surgery department due a painful mass on the abdominal wall that has appeared 3 months before as a fast-growing, with suspicious diagnosis of strangulated umbilical hernia.

An Ominous Sign: Mucinous Ovarian Carcinoma with Sister Mary Joseph Nodule

Despite two centuries of progress in its surgical and oncological management, ovarian cancer remains the most lethal of the gynaecological cancers, claiming the lives of nearly 185,000 women globally each year. Historically considered a single disease, there is growing recognition that ovarian cancer is in fact a spectrum of malignancies with distinct cellular origins, molecular driver pathways and clinicopathological features. Mucinous ovarian carcinoma (mOC) is a rare histological subtype that presents a particular challenge in accurate diagnosis and management. Frequently confused with metastatic deposits from extra-ovarian mucinous tumours, the true incidence of primary mOC is estimated to be between 3-5%. Typically affecting younger women, prognosis for late-stage disease is abysmal with a median survival of <15 months. This case report describes a 38-year-old patient who presented with rapidly worsening abdominal distension. Subsequent debulking surgery removed a mass weighing 2.4kg, confirmed by histopathology as a high grade mucinous ovarian carcinoma with a mural nodule of anaplastic carcinoma. Evidence behind the current guidelines for management will be discussed, addressing our recent understanding of mOC as a separate disease from other histotypes and the consequent challenges in interpreting data from large multicentre trials in which patients with mOC are poorly represented. Moreover, using the Sister Mary Joseph nodule (SMJN) as an example, this case also highlights the importance of the physical examination and the value of subtle (and sometimes missed) clinical signs that provide important clues about the extent of a patient’s underlying disease and prognosis.

Cutaneous Endometriosis: A Case Report

Cutaneous endometriosis (CEM) is a rare disease characterized by endometrial glands and/or stroma in the skin. Lesions present as a firm papule or nodule and can be blue, violaceous, red, brown or skin-colored. Patients frequently report cyclical tenderness, swelling and bleeding at the site of the lesion related to their menstrual cycle. CEM presents a diagnostic challenge as lesions are commonly mistaken for a keloid, dermatofibroma, dermatofibrosarcoma protuberans, melanoma or cutaneous metastasis of cancer (e.g., Sister Mary Joseph nodule). A biopsy must be taken to rule out malignancy and treatments include surgical excision and hormonal agents. To our knowledge, just over 100 cases have been reported in the literature. Herein we highlight a case of CEM in a 43-year-old female that presented to dermatology after being overlooked on prior work-up with obstetrics and gynecology. This case highlights the need for dermatologists to be familiar with CEM, as we may be the first clinicians these patients present to for painful cutaneous lesions.

Sister Mary Joseph Nodules: A Case Report about a Rare Location of Skin Metastasis

Umbilical skin metastases (or Sister Mary Joseph nodules) are rare. Their presence typically indicates the late manifestation of deep-seated abdominopelvic malignancy. They occur mainly in gynecological cancers, and gastrointestinal cancers in men. The most common histology is adenocarcinoma (∼75% of cases), but it can also rarely be squamous cell or undifferentiated carcinoma. These metastases can be present at diagnosis or appear at disease recurrence, and are associated with a very poor prognosis with an average survival of 11 months. We report the clinical case of a 58-year-old man with metastatic pancreatic adenocarcinoma and umbilical cutaneous metastasis after receiving first-line chemotherapy. The diagnosis was established upon liver biopsy in July 2019, after the patient presented with a complaint of transfixing abdominal pain. The first-line treatment consisted of six cycles of modified FOLFIRINOX chemotherapy. However, in November 2019, computed tomography (CT) scan showed disease progression. Second-line treatment with gemcitabine (Gemzar®) led to a 16% decrease in target lesions. During the fourth cycle, three periumbilical indurated nodules appeared. After six cycles, skin infiltration had increased, and the patient reported his abdominal pain had intensified. Reassessment by CT scan showed an increase in both hepatic and peritoneal disease progression. Third-line treatment with FOLFIRI, started on April 15, 2020, could not control the disease, leading to greater induration and subcutaneous infiltration, which were responsible for the increased pain and ultimate death. Umbilical skin metastases are rare, and they are associated with advanced metastatic disease and a very poor prognosis. Cases reporting Sister Mary Joseph nodules are needed to better understand the conditions and mechanisms of their appearance and dissemination.