A Forty-Two-Year-Old Male with Multiple Gastrointestinal Polyps, Cutaneous Manifestations, and Nail Dystrophy

Quiz Case A 42-year-old male patient presented with chronic diarrhea and generalized body weakness for 1 year. There was a history of significant weight loss and multiple episodes of loose stools per day, not associated with food consumption. Routine hematological investigations showed iron deficiency anemia, hypoproteinemia, and hypothyroidism. On mucocutaneous examination, generalized xerosis of the skin and hyperpigmented macules over the face, palms, dorsum of hands and feet, and lower back were present [Figure 1a-c].Figure 1: Patient with (a) generalized dryness of skin, (b) hyperpigmented macules on the face, and (c) hyperpigmented macules on the palmsOn nail examination, dystrophic changes of all finger and toe nails were present [Figure 2a and b]. A hair examination showed diffuse, non-scarring alopecia of the scalp with thinning of the hairs.Figure 2: Patient with dystrophic changes of (a) fingers nails and (b) toes nailsUpper and lower GI endoscopy showed multiple polyps of size 0.5–3 cm, sessile as well as pedunculated, in the stomach, small intestine, and large intestine, with no polyp in the esophagus [Figure 3]. Histopathological examination of one of the antral gastric polyps showed elongated, tortuous, and hyperplastic fovealae with dilated glands and patchy, dense, mixed inflammatory infiltrates in the superficial part of the lamina propria, which were suggestive of hyperplastic polyps [Figure 4].Figure 3: Gastrointestinal (GI) endoscopy showed multiple polyps of different sizesFigure 4: Histopathological examination of an antral gastric polyp showed elongated, irregular, tortuous, and hyperplastic foveolae. There was a patchy, dense, mixed inflammatory infiltrate in the superficial part of the lamina. [H and E stain, 100×)What is the Diagnosis? Cronkhite-Canada syndrome Discussion Cronkhite-Canada syndrome (CCS) is a rare, non-hereditary disorder characterized by diffuse gastrointestinal (GI) polyposis, diarrhea, abdominal pain, skin hyperpigmentation, alopecia, and dystrophic nails. CCS is also known as polyposis pigmentation-alopecia-onychatrophia syndrome. The etiology of CCS remains unknown. Patients of European and Asian descent are mostly affected. Of the reported cases, 75% are from Japan.[1] The mean age of onset is the 5–6th decade, with the female-to-male ratio being 3:2.[2] Diarrhea is the most common initial symptom, which causes malabsorption, leading to weakness, anemia, weight loss, and edema.[3] Malabsorption also induces ectodermal changes such as skin hyperpigmentation, alopecia, and dystrophic nails.[1] Hair and nail changes may not improve with restored nutrition.[4] On endoscopy, multiple polyps are seen involving the stomach, intestine and colon but sparing the esophagus. On histology, polyp features are similar to juvenile or hamartomatous polyps, with cystic dilated and distorted glands, submucosal edema, and a mild inflammatory infiltrate including eosinophils.[4] The CCS diagnosis is based on clinical presentation, physical examination, endoscopy, and histopathological features of GI polyps. Differential diagnosis CCS may include other GI polyp disorders with skin changes, such as Peutz-Jeghers syndrome (PJS), Juvenile Polyposis syndrome (JPS), Cowden disease, and Gardner syndrome. PJS and JPS have a proven genetic component (autosomal dominant), whereas CCS is a non-hereditary syndrome. PJS presents with mucocutaneous hyperpigmentation, but in our patient, the mucosa was not involved. CCS is pathologically distinguished from JPS in that the intervening mucosa between hamartomatous polyps is as edematous and inflamed as the polyp, whereas the intervening mucosa between juvenile polyps in JPS is normal. JPS occurs before 10 years of age and has no hair, nail, or cutaneous changes. Cowden disease is frequently associated with breast and thyroid carcinoma, while CCS is not associated with breast and thyroid carcinoma. Cutaneous manifestations of Gardner syndrome (variant of familial adenomatous polyposis) include epidermoid cysts, lipomas, and multiple desmoid tumors, which were absent in our case.[5] CCS presents with non-hereditary GI polyps and the cutaneous triad of alopecia, nail changes, and hyperpigmentation [Figures 1b and c, 2a and b, 3]. No evidence-based treatment is available due to its rarity. The mainstay of treatment is nutritional support with the correction of electrolytes, proteins, and mineral deficiencies. It may be combined with antihistamines, acid suppression, antibiotics, glucocorticoids, and surgery with mixed results. Learning Points CCS is a rare non-hereditary disorder presented with hyperpigmented macules, onychodystrophy, and alopecia. GI symptoms include diarrhea, loss of weight, and on endoscopy, multiple polyps in the stomach and intestine with sparing of the esophagus. Histology of polyps showed hyperplastic polyps with a patchy, dense mixed inflammatory infiltrate without any dysplasia. CCS complications include anemia, hypoproteinemia, and electrolyte imbalance. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.

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