Chronic diarrhea and skin hyperpigmentation: A new association
<b>Background/Aims:</b> The objective of this study was to describe patients with chronic diarrhea and abnormal skin hyperpigmentation with distinct distribution. <b> Methods:</b> This is a retrospective review of children who presented with diarrhea and skin hyperpigmentat...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2008-01-01
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| Series: | The Saudi Journal of Gastroenterology |
| Subjects: | |
| Online Access: | http://www.saudijgastro.com/article.asp?issn=1319-3767;year=2008;volume=14;issue=4;spage=187;epage=191;aulast=Al |
| _version_ | 1828843222160375808 |
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| author | Al Qoaer Khaled Al Mehaidib Ali Shabib Sohail Banemai Mohammed |
| author_facet | Al Qoaer Khaled Al Mehaidib Ali Shabib Sohail Banemai Mohammed |
| author_sort | Al Qoaer Khaled |
| collection | DOAJ |
| description | <b>Background/Aims:</b> The objective of this study was to describe patients with chronic diarrhea and abnormal skin hyperpigmentation with distinct distribution. <b> Methods:</b> 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. <b> Results:</b> 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. <b> Conclusions:</b> We believe that this association might represent a new syndrome with an autosomal recessive inheritance that warrants further studies. |
| first_indexed | 2024-12-12T20:40:50Z |
| format | Article |
| id | doaj.art-35fd7b2eddd54de2baf2ac9f261af5d9 |
| institution | Directory Open Access Journal |
| issn | 1319-3767 1998-4049 |
| language | English |
| last_indexed | 2024-12-12T20:40:50Z |
| publishDate | 2008-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | The Saudi Journal of Gastroenterology |
| spelling | doaj.art-35fd7b2eddd54de2baf2ac9f261af5d92022-12-22T00:12:45ZengWolters Kluwer Medknow PublicationsThe Saudi Journal of Gastroenterology1319-37671998-40492008-01-01144187191Chronic diarrhea and skin hyperpigmentation: A new associationAl Qoaer KhaledAl Mehaidib AliShabib SohailBanemai Mohammed<b>Background/Aims:</b> The objective of this study was to describe patients with chronic diarrhea and abnormal skin hyperpigmentation with distinct distribution. <b> Methods:</b> 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. <b> Results:</b> 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. <b> Conclusions:</b> We believe that this association might represent a new syndrome with an autosomal recessive inheritance that warrants further studies.http://www.saudijgastro.com/article.asp?issn=1319-3767;year=2008;volume=14;issue=4;spage=187;epage=191;aulast=AlDiarrhea syndromephenotypic diarrheainfantile diarrhea |
| spellingShingle | Al Qoaer Khaled Al Mehaidib Ali Shabib Sohail Banemai Mohammed Chronic diarrhea and skin hyperpigmentation: A new association The Saudi Journal of Gastroenterology Diarrhea syndrome phenotypic diarrhea infantile diarrhea |
| title | Chronic diarrhea and skin hyperpigmentation: A new association |
| title_full | Chronic diarrhea and skin hyperpigmentation: A new association |
| title_fullStr | Chronic diarrhea and skin hyperpigmentation: A new association |
| title_full_unstemmed | Chronic diarrhea and skin hyperpigmentation: A new association |
| title_short | Chronic diarrhea and skin hyperpigmentation: A new association |
| title_sort | chronic diarrhea and skin hyperpigmentation a new association |
| topic | Diarrhea syndrome phenotypic diarrhea infantile diarrhea |
| url | http://www.saudijgastro.com/article.asp?issn=1319-3767;year=2008;volume=14;issue=4;spage=187;epage=191;aulast=Al |
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