JCT Lai et al. NEJM 2023; 389: 2377-2385. Case 39-2023: A 43-Year-Old Woman with Chronic Diarrhea, Hair Loss, and Nail and Skin Changes
This case presents a polyposis disorder seen in adults and provides a useful differential diagnosis: autoimmune disorders including IBD, vasculitis, and celiac, primary adrenal insufficiency, heavy metal poisoning, amyloidosis, and cancer. This rare disorder has a reported “5-year mortality of 55%, mostly due to complications such as sepsis and gastrointestinal bleeding”
A few of the images from Figure 2:
ChatGPT’s explanation of Cronkhite-Canada Syndrome:
Cronkhite-Canada syndrome (CCS) is a rare, noninherited, sporadic gastrointestinal polyposis syndrome that affects various parts of the digestive system. It is characterized by the presence of multiple polyps in the stomach and colon, as well as other distinctive features.
Epidemiology: Cronkhite-Canada syndrome is a very rare disorder, with only a few hundred cases reported worldwide. It typically affects older adults, with an average age of onset around 60 years, and there is no known genetic predisposition.
Clinical Presentation: Patients with Cronkhite-Canada syndrome often present with a combination of gastrointestinal and dermatological symptoms. The gastrointestinal manifestations include diarrhea, abdominal pain, weight loss, and protein-losing enteropathy. The dermatological symptoms consist of characteristic changes such as nail atrophy, hyperpigmentation, alopecia (hair loss), and skin hyperpigmentation.
Gastrointestinal Findings:
- Polyposis: Multiple [hamartomotous] polyps are found in the stomach and colon. These polyps can vary in size and number.
- Diarrhea and Abdominal Pain: Chronic diarrhea and abdominal pain are common symptoms due to the involvement of the digestive tract.
Dermatological Findings:
- Nail Changes: Nail atrophy, ridges, and splitting are commonly observed.
- Skin Changes: Hyperpigmentation of the skin, especially on the palms and soles, is a distinctive feature.
- Alopecia: Hair loss is often present.
Laboratory Findings: Patients with Cronkhite-Canada syndrome may exhibit laboratory abnormalities, including hypoalbuminemia (low levels of albumin in the blood), hypoproteinemia, and electrolyte imbalances due to protein loss in the gastrointestinal tract.
Diagnosis: Diagnosis is based on a combination of clinical presentation, endoscopic findings, and pathology results from biopsies of the affected gastrointestinal tissue.
Treatment: Management of Cronkhite-Canada syndrome involves a multidisciplinary approach. Nutritional support is essential, and patients may require supplementation of protein and nutrients. Corticosteroids are often used to suppress inflammation, and immunosuppressive agents may be considered in refractory cases. Regular surveillance endoscopy is necessary to monitor polyp growth and assess response to treatment.
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