Sister Mary Joseph's nodule: an unusual but important physical finding characteristic of widespread internal malignancy

Sister Mary Joseph’s nodule is an eponymous term referring to a malignant metastatic umbilical nodule. It is a rare but important physical finding as it is a sign of advanced stage of malignancy. This case report describes an 82-year-old female diagnosed with metastatic pancreatic adenocarcinoma presenting with a Sister Mary Joseph’s nodule. This is an unusual presentation of pancreatic malignancy. CaSe report An 82-year-old woman presented to the GP with a 4-week history of an umbilical nodule (Figure 1). This was suspected to be a neoplastic lesion and she was referred to the dermatology department for further assessment. She was otherwise asymptomatic. She had a past medical history of type 2 diabetes mellitus, essential hypertension, and anaemia due to chronic kidney disease. On examination, she looked well with no abdominal discomfort. There was a 3 cm umbilical nodule and bilateral inguinal lymphadenopathy. The working diagnosis was a Sister Mary Joseph’s nodule with underlying internal malignancy. Urgent outpatient investigations were arranged. Blood tests demonstrated normocytic anaemia, raised tumour markers, renal impairment, and a normal liver function test. Imaging with a staging computerised tomography scan of her chest, abdomen, and pelvis, and biopsy of the umbilical nodule confirmed the diagnosis of metastatic pancreatic adenocarcinoma. She was referred to the hepatobiliary multidisciplinary team; the malignancy was judged to be inoperable due to the extent of the disease, and she was referred to the Macmillan Team for continuing palliative care in the community. Six weeks after initial presentation to secondary care, she developed gastric outlet obstruction symptoms and died 5 weeks later. This case raised the question of how to diagnose Sister Mary Joseph’s nodule and how to distinguish it from other causes of umbilical nodules?

Metastatic umbilical nodule was first described in the literature in 1864. 1 This clinical sign later became known as Sister Mary Joseph’s nodule, named after Sister Mary Joseph Dempsey (1856–1939), surgical assistant of Dr William James Mayo, who first noticed the association between abdomino-pelvic malignancies and metastatic umbilical nodules. 2 epIdeMIology Sister Mary Joseph’s nodule is uncommon, with an estimated 1–3% cases of abdomino- pelvic malignancy metastasising to the umbilicus. 3 Sister Mary Joseph’s nodule is usually associated with primary neoplasm of the gastrointestinal (35–65%) and genitourinary tract (12–35%). 4 Other reported sites included lung, pancreas, liver, gallbladder, lymphoma, breast, kidney, penis, prostate, and testicles. The source of the primary neoplasm may not be found in up to 30% of patients. 4 aetIology The aetiology of Sister Mary Joseph’s nodule remains unclear and the proposed S tso, MRCP, FHEA, academic clinical fellow; J Brockley, MD, MRCP, specialist registrar in dermatology; H recica, MSc, MD, MRCP, specialist registrar in dermatology; a Ilchyshyn, FRCP, consultant dermatologist, Department of Dermatology, University Hospitals Coventry and Warwickshire NHS Trust, Coventry. address for correspondence Simon tso, Department of Dermatology, University Hospitals Coventry and Warwickshire NHS Trust, Coventry, CV2 2DX, UK. e-mail: [email protected] Submitted: 1 January 2013; final acceptance: 21 January 2013. ©British Journal of general practice 2013; 63: 551–552. doI: 10.3399/bjgp13X673900 Figure 1. a Sister Mary Joseph’s nodule. hypothesis includes direct extension of tumour to the umbilicus, lymphatic, or haematogenous spread. 5 preSentatIon Sister Mary Joseph’s nodule typically presents as an umbilical or paraumbilical nodule with a firm consistency, varying in size between 0.5–15 cm. 5 The nodule may be painful and discharge fluid. It is important to bear in mind that Sister Mary Joseph’s nodule may be the only presenting complaint in an otherwise well patient; other patients can present in a poor clinical state with additional physical signs such as ascites and pleural effusion. 6 A focused history and examination of the chest, abdomen, and regional lymph nodes may reveal the source of the primary neoplasm. Patients who presented with Sister Mary Joseph’s nodule following treatment of a known neoplasm raise the possibility of its recurrence. dIFFerentIal dIagnoSIS Consideration of the differential diagnosis of a patient presenting with an umbilical nodule should include primary umbilical neoplasm, Sister Mary Joseph’s nodule (metastatic umbilical nodule), umbilical hernia, umbilical endometriosis, omphalith, keloid, pyoderma gangrenosum, and foreign body. Distinguishing between these differential diagnosis can be difficult and Table 1 provides a guide to facilitate GPs with their diagnosis and management of these conditions. ManageMent The finding of a Sister Mary Joseph’s nodule (or a suspicious looking umbilical nodule) in primary care should prompt urgent referral to secondary care for further assessment. Patients who are debilitated by their illness may require hospital admission for investigation and management. Biopsy of the umbilical nodule provides a convenient way of obtaining tissue sample for histological diagnosis of the disease. Imaging with CT and/or MRI scan will establish the extent of the malignancy. The prognosis of patients presenting with Sister Mary Joseph’s nodule is generally poor as it is a sign of advanced malignancy. Management of the disease should take into account patient preference, the clinical state of the patient, and the aetiology of the primary malignancy. Palliative management may be the only option for some patients, whereas in carefully selected cases, patients may benefit from more aggressive treatment such as surgery, chemotherapy, and radiotherapy. 4

Sister Mary Joseph’s nodule is an uncommon but important physical finding. Therefore, this is an important differential diagnosis for GPs to consider in patients presenting with umbilical nodules. patient consent The patient provided written consent for the photograph to be published. The patient’s next of kin provided written consent for this article to be published. provenance Freely submitted; externally peer reviewed. discuss this article Contribute and read comments about this article on the Discussion Forum: http://www.rcgp.org.uk/bjgp-discuss 552 British Journal of General Practice, October 2013 table 1. the differential diagnosis of an umbilical nodule differential diagnosis associated features Management Primary umbilical neoplasm • May be indistinguishable from a Referral to secondary care Sister Mary Joseph’s nodule Sister Mary Joseph’s nodule • Symptoms and physical signs suggestive Referral to secondary care of malignancy may be present • History of a previously treated primary neoplasm in some cases Umbilical and • The hernia may be congenital or Referral to secondary care paraumbilical hernia acquired after abdominal surgery • Uncomplicated hernias are reducible and associated with a cough impulse Umbilical endometriosis • Occurs in females of reproductive age Referral to secondary care • Presents with a bleeding umbilical nodule especially during menstruation Keloid • History of skin trauma or navel piercing Options include no treatment, silicon gel, intralesional steroids, surgery, and laser Omphalith • Poor personal hygiene leading to Personal hygiene advice hardening of exfoliated skin and sebum accumulated within the umbilicus Pyoderma gangrenosum • Typically associated with an underlying Referral to secondary care disorder such as inflammatory bowel disease, rheumatoid arthritis, and myeloproliferative disorder Foreign body • Identification of a foreign body Removal of foreign body

1. Quenu L. Du cancer secondaire de l’ombilic. [Secondary cancer in the umbilicus]. Rev Chir 1896; 16: 97–133. 2. Mayo WJ. Metastasis in cancer. Proceedings of the staff meetings of the Mayo Clinic, 1928, 3: 327. 3. Touraud JP, Lentz N, Dutronc Y, et al . [Umbilical cutaneous metastasis (or Sister Mary Joseph’s nodule) disclosing an ovarian adenocarcinoma]. Gynecol Obstet Fertil 2000; 28(10): 719–721. [in French] 4. Gabriele R, Conte M, Egidi F, Borghese M. Umbilical metastasis: current viewpoint. World J Surg Oncol 2005; 3(1): 13. 5. Salemis NS. Umbilical metastasis or Sister Mary Joseph’s Nodule as a very early sign of an occult cecal adenocarcinoma. J Gastrointest Canc 2007; 38(2–4): 131–134. 6. Dar IH, Kamili MA, Dar SH, Kuchaai FA. Sister Mary Joseph nodule — a case report with review of literature. J Res Med Sci 2009; 14(6): 385–387.