Congenital familial erythrocytosis: A case report with literature review

Dar, Ishrat Hussaın; Dar, Showkat Hussain; Kamili, M. A.; Quadri, M.I.; Wazir, Hardeep Singh; Bhat, Altaf Ahmad

doi:10.4103/1658-631x.149690

Cited by 3 publications

(8 citation statements)

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“…Notably, SMJN may be the sole presenting complaint in some otherwise healthy patients. However, other patients may present with a poor clinical state and additional physical signs, such as ascites and pleural effusion[ 4 ]. A focused history and examination of the chest, abdomen, and regional lymph nodes can help identify the source of the primary neoplasm.…”

Section: Discussionmentioning

confidence: 99%

Long-term survival of the Sister Mary Joseph nodule originating from breast cancer: A case report

Kanayama,

Tanioka,

Hattori

et al. 2023

World J Clin Cases

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BACKGROUND A Sister Mary Joseph nodule (SMJN) is an uncommon cutaneous metastasis found in the umbilicus, indicating an advanced malignancy. SMJNs typically originate from intra-abdominal sources, rarely from breast cancer. Diagnosis suggests a poor prognosis with a median survival of approximately 8 mo after detection. Managing patients with SMJNs is challenging, as most receive limited palliative care only. The optimal strategy for long-term survival of these patients remains unclear. CASE SUMMARY A 58-year-old female, previously diagnosed with right breast cancer 17 years ago and underwent breast-conserving surgery, adjuvant radiotherapy, and endocrine therapy, presented with a 2-cm umbilical nodule. Thirteen years previously, metastases were detected in the right supraclavicular, infraclavicular, hilar, and mediastinal lymph nodes. An umbilical nodule emerged four years before the date of presentation, confirmed as a skin metastasis of primary breast cancer upon excisional biopsy. Despite initial removal, the nodule recurred and grew, leading to her referral to our hospital. The patient underwent extensive excision of the umbilical tumor and immediate abdominal wall reconstruction. Endocrine therapy was continued postoperatively. Five years later, no local recurrence was observed, and the patient continued to work full-time, achieving over 9 years of survival following SMJN diagnosis. CONCLUSION This case study aimed to identify the optimal strategy for achieving extended survival outcomes in patients with SMJN through comprehensive treatment. We presented a case of the longest survival in a patient after undergoing a multidisciplinary treatment regimen. Our findings underscore the significance of adopting a multimodal treatment approach comprising timely and wide excision along with adjunctive therapy. This approach can control the disease, prolong survival, and improve the quality of life in patients with SMJN.

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Section: Discussionmentioning

confidence: 99%

Long-term survival of the Sister Mary Joseph nodule originating from breast cancer: A case report

Kanayama,

Tanioka,

Hattori

et al. 2023

World J Clin Cases

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“…É um achado clínico raro (1% -3% das neoplasias), mas importante, não só por poder constituir a manifestação inicial da doença, mas também por poder alterar o prognóstico do doente, já que é um sinal de estadio avançado de malignidade. 1,2 O nódulo é geralmente de consistência firme, irregular, podendo apresentar-se fissurado ou ulcerado, com conteúdo exsudativo. 3 A maioria está associada a neoplasias primárias do trato gastrointestinal (35% -65%) e genitourinário (12% -35%).…”

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“…4 As hipóteses mais aceites para a disseminação do carcinoma metastático para a região umbilical incluem a disseminação contígua de carcinoma peritoneal, disseminação hematogénica ou linfática (sobretudo no carcinoma pancreático). 2 Apresentamos o caso de um doente de 80 anos, seguido em consulta de Oncologia por adenocarcinoma do reto, estenosante, com estadiamento imagiológico III-C (T4aN2aM0), que foi proposto para quimioradioterapia neoadjuvante, e que em caso de resposta favorável, teria indicação para cirurgia curativa. Foi referenciado à consulta de Dermatologia por placa periumbilical indolor com um mês de evolução, detetada durante o exame objetivo em consulta, e que não foi descrita nos exames imagiológicos de estadiamento.…”

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“…A presença do NIMJ indica uma neoplasia em estádio avançado com mau prognóstico, na grande maioria dos casos sem possibilidade de cirurgia curativa, e com uma esperança média de vida de 10 meses. 2 Com este caso clínico, pretendemos reforçar a importância que o exame físico tem na medicina moderna, e relembrar um sinal clínico clássico que pode constituir a manifestação inicial de neoplasia, cuja presença alterou o prognóstico do nosso doente, bem como o plano terapêutico da doença. AS: Elaboração e revisão do manuscrito.…”

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Nódulo de Irmã Maria José Associado a Adenocarcinoma do Reto

Ramos,

Magarreiro Silva,

Alves

2024

Acta Med Port

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“…It is uncommon finding, occurring in up to 3% of abdominal and pelvic malignancies. 1 It is extremely rare for prostate cancer to cause a Sister Mary Joseph nodule, with only a few cases reported. 2 Appearance is variable and clinicians should demonstrate a high index of suspicion to avoid misdiagnosis.…”

mentioning

confidence: 99%

Sister Mary Joseph nodule

Ng,

Teo,

Mitchell

2023

Adv in Digestive Medicine

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Congenital familial erythrocytosis: A case report with literature review

Cited by 3 publications

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Long-term survival of the Sister Mary Joseph nodule originating from breast cancer: A case report

Long-term survival of the Sister Mary Joseph nodule originating from breast cancer: A case report

Nódulo de Irmã Maria José Associado a Adenocarcinoma do Reto

Sister Mary Joseph nodule

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