Bloom Syndrome in Two Siblings

:  Bloom syndrome (congenital telangiectatic erythema) is a rare autosomal recessive disorder characterized by telangiectasias and photosensitivity, growth deficiency of prenatal onset, variable degrees of immunodeficiency, and increased susceptibility to neoplasms of many sites and types. We are re...

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Veröffentlicht in:Pediatric dermatology 2010-03, Vol.27 (2), p.174-177
Hauptverfasser: Sultan, Sheikh Javeed, Sultan, Sheikh Tariq
Format: Artikel
Sprache:eng
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Zusammenfassung::  Bloom syndrome (congenital telangiectatic erythema) is a rare autosomal recessive disorder characterized by telangiectasias and photosensitivity, growth deficiency of prenatal onset, variable degrees of immunodeficiency, and increased susceptibility to neoplasms of many sites and types. We are reporting Bloom syndrome in two brothers from Kashmir (India), 8 and 6 years of age, who presented with erythematous rashes on the face, photosensitivity, and growth retardation.
ISSN:0736-8046
1525-1470
DOI:10.1111/j.1525-1470.2010.01101.x