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CHRONIC DIARRHEA AND SKIN HYPERPIGMENTATION: A NEW ASSOCIATION

K Al Qoaer¹, A Al Mehaidib², S Shabib², M Banemai²
¹Division of Pediatric Gastroenterology, Department of Pediatric, University of Alberta, Edmonton, Alberta; ²Section of Gastroenterology, Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

OBJECTIVES: To describe patients with chronic diarrhea and abnormal skin hyperpigmentation with distinct distribution.
METHODS: A retrospective review of patients' charts of children presented with diarrhea and skin hyperpigmentation seen between 1990 to 2005 at the King Faisal Specialist Hospital. Clinical presentation, laboratory investigations, endoscopic and histological data were reviewed.
RESULTS: Seven patients with chronic diarrhea have abnormal skin hyperpigmentation with distinct distribution. All presented in the first two months of life. Six patients have other features like abnormal hair and facial dysmorphism. Mental retardation was reported in one patient. Consanguinity was positive in six patients and family history in four patients. Two patients were 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 increased melanophages with fibrosis of papillary derma in two patients and it was normal in one patient. Hair was analyzed by electron microscopy in two patients and showed abnormal pattern with decreased pigmentation and diameter; however chemical analysis was normal. Two other patients had trichorrhexis nodosa and it was normal in another one patient. Chromosomal analysis was done for three patients and was normal. One patient died with sepsis and only one patient is a Total Parenteral Nutrition dependent.
CONCLUSIONS: We believe that this association might represent a new syndrome with an autosomal recessive inheritance which needs further studies.

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