Article
Bloom syndrome does not always present with sun-sensitive facial erythema.
European journal of medical genetics - 1 Feb 2018
Bouman Arjan, van Koningsbruggen Silvana, Karakullukcu M Bariş, Schreuder Willem Hans, Lakeman Phillis
Abstract excerpt
Bloom syndrome is an autosomal recessive condition characterized by severe pre- and postnatal growth deficiency, immunodeficiency, an increased risk for malignancies, craniofacial dysmorphisms, and "typical" erythematous sun-sensitive skin lesions of the face. This facial rash has a butterfly-shaped distribution around the nose and is usually observed for the first time during the early years of life. Though...
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