Familial cutaneous photosensitivity and colitis with lethal outcome.

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Familial cutaneous photosensitivity and colitis with lethal outcome.

Three sibs out of four, born to unrelated parents, developed early cutaneous photosensitivity and severe colitis. All of them died from untreatable diarrhoea. A fourth boy, whose father was different, did not have the same symptoms. The origin of this syndrome remains unclear and, in particular, no metabolic defect could be detected.

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Lethal familial protracted diarrhoea.

24 children with severe protracted diarrhoea from 10 families, in which at least one sibling was affected, are reported. In two families the siblings were from 1st-cousin marriages, in one family both parents had unaffected children from previous marriages, and in another family the mother had a normal daughter from an earlier marriage. The onset of the diarrhoea was on the first day of life in...

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Cutaneous pigmentation after photosensitivity induced by vandetanib therapy.

BACKGROUND Photosensitivity has been reported in patients who were treated with vandetanib (ZD6474), an inhibitor of epidermal growth factor receptor, vascular endothelial growth factor receptor, and the RET (rearranged during transfection) kinases. OBSERVATIONS We describe the occurrence of cutaneous hyperpigmentation after photosensitivity in 2 patients who were treated with vandetanib. The...

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Familial chronic muco-cutaneous candidiasis.

Chronic oral candidiasis has been described in association with abnormalities of the endocrine system on many occasions, both in case reports (Sutphin, Albright, and McCune, 1943), and more general reviews (Kunin et al, 1963). Chronic candidiasis has also been recorded in the familial thymic aplasia described by Nezelof (Nezelof et al, 1964), Swiss-type agammaglobulinaemia (Hitzig, 1968) and Di...

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ژورنال

عنوان ژورنال: Journal of Medical Genetics

سال: 1991

ISSN: 1468-6244

DOI: 10.1136/jmg.28.2.114