5 research outputs found

    Emergency Total Proctocolectomy in an Uninsured Hispanic Man with Colorectal Adenocarcinoma Secondary to Familial Adenomatous Polyposis

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    Background: FAP is a rare genetic disorder classically inherited in an autosomal dominant pattern, which affects about 1 in 8 300 individuals (1). The Hispanic population has limited data regarding the spectrum of FAP mutation and clinical manifestation, although there is significant anecdotal evidence that the prevalence might be higher, with one only known Hispanic familial cancer registry in Puerto Rico (2). Case Presentation: We are reporting the case of a 25-year-old Hispanic gentleman with a strong family history of Familial Adenomatous Polyposis (FAP) and Colorectal Cancer (CRC) who presented for evaluation of abdominal pain, recurrent bloody stools, and profound weight loss. Initial Hb was 7.2 g/dL, and abdominal examination showed generalized rigidity and tenderness worse in the left lower quadrant. Colonoscopy revealed multiple large, non-bleeding polyps in the entire colon and up to the dentate line. The pathology report was positive for tubulovillous adenoma. The patient underwent an emergency laparoscopic-assisted proctocolectomy with Brooke ileostomy. The surgical pathology report showed grade 2 moderately differentiated adenocarcinoma. Immunohistochemical stains were positive for the expression of MLH1, PMS2, MSH2, and MSH6 mismatch repair proteins. His hospital course was uneventful, and he was discharged home to follow up with medical oncology, surgery, and primary care. Conclusion: To reduce the associated healthcare costs and morbidity and mortality of cancer in general, especially those with associated strong risk factors such as FAP and CRC, early genetic counseling, timely screening, appropriate risk-reducing medical and surgical interventions, and regular lifetime follow-up of index cases are crucial. It is also imperative to promote health literacy, especially in communities with low socio-economic status who are often at a disadvantage. Lastly, there is a need for continued research on FAP, especially in minority populations, with increased promotion and use of familial cancer registries to reduce the overall burden

    Deeper Seated Than Skin Deep: Report of a Rare Case of Follicular Occlusion Tetrad and a Literature Review

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    Follicular occlusion tetrad (FOT) is a clinical syndrome consisting of hidradenitis suppurativa (HS), acne conglobata (AC), dissecting cellulitis of the scalp (DCS), and pilonidal cyst (PC). These entities typically occur independently, but occasionally present simultaneously comprising FOT. The four components share similar pathophysiology affecting the apocrine glands, follicular hyperkeratinization being the hallmark of each entity.Understanding shared similarities of each disease is paramount for the treatment approach as the relapsing and chronic nature of this syndrome can be burdening to patients. We present the case of a 22- year-old obese Hispanic man with a history of tobacco use who presented with worsening skin lesions. The patient developed extensive facial cystic acne 5 years before presentation, followed by left axillary hidradenitis suppurativa lesions two years before the presentation and right axillary involvement one year after. Skin manifestations then expanded to include the lower back, gluteal and perineal areas. The patient was diagnosed with FOT and despite conservative medical management, his lesions failed to improve. He ultimately underwent multiple staged excisional debridement surgeries and skin grafts. Our case underlines the presence of a syndromic association of cutaneous lesions that share a common pathogenesis and emphasizes that this entity requires a multidisciplinary approach. New biologic therapies continue to emerge and may potentially prevent the need for surgical intervention and the burden associated with it
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