Saudi Journal of Gastroenterology
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Year : 2008  |  Volume : 14  |  Issue : 4  |  Page : 187-191

Chronic diarrhea and skin hyperpigmentation: A new association

1 Department of Pediatric, Division of Pediatric Gastroenterology,University of Alberta, Edmonton, Canada
2 Department of Pediatrics, Section of Gastroenterology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

Correspondence Address:
Khaled Al Qoaer
Division of Pediatric Gastroenterology, Department of Pediatric, University of Alberta, #9222 Aberhart Centre 1, 11402 University Avenue NW, Edmonton
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/1319-3767.41742

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Background/Aims: The objective of this study was to describe patients with chronic diarrhea and abnormal skin hyperpigmentation with distinct distribution. Methods: This is a retrospective review of children who presented with diarrhea and skin hyperpigmentation. The clinical presentation, laboratory investigations as well as endoscopic and histological data were reviewed. Results: Seven patients with chronic diarrhea had abnormal skin hyperpigmentation with distinct distribution and presented in the first two months of life. Six patients had other features such as abnormal hair and facial dysmorphism. Mental retardation was reported in one patient. Consanguinity was positive in six patients, and there was family history of consanguinity in four patients, with two patients being siblings. No significant immunodeficiency was reported. Intestinal biopsies were obtained in six patients and showed active chronic inflammation in three patients, partial villous atrophy in two patients, and eosinophilic infiltrate with mild villous atrophy in one patient. Colonic biopsies showed mild focal colitis in three patients and mild colitis with eosinophilic infiltrate in one patient. Skin biopsies showed a greater number of melanophagies with fibrosis of papillary derma in two patients but skin biopsy was normal in one patient. The hair of two patients was analyzed by electron microscopy, which showed an abnormal pattern with decreased pigmentation and diameter; however, its chemical analysis was normal. Two other patients had trichorrhexis nodosa, but no abnormalities were seen in one patient. Chromosomal number was normal in three patients. One patient died because of sepsis, and only one patient was dependent on total parenteral nutrition. Conclusions: We believe that this association might represent a new syndrome with an autosomal recessive inheritance that warrants further studies.

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