A Case of Bloom Syndrome with Conjunctival Telangiectasia
| Autor: | Linda M. Christmann, Eleanor E. Sahn, Richard H. Hussey |
|---|---|
| Rok vydání: | 1997 |
| Předmět: |
Keratinocytes
Male congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Conjunctiva Eye disease Dermatology medicine Humans Bloom syndrome Telangiectasia Skin business.industry fungi Genodermatosis Infant nutritional and metabolic diseases Episcleritis medicine.disease eye diseases medicine.anatomical_structure Erythema Pediatrics Perinatology and Child Health Ataxia-telangiectasia sense organs Epidermis Differential diagnosis medicine.symptom business Bloom Syndrome |
| Zdroj: | Pediatric Dermatology. 14:120-124 |
| ISSN: | 1525-1470 0736-8046 |
| DOI: | 10.1111/j.1525-1470.1997.tb00218.x |
| Popis: | Bloom syndrome is a rare genodermatosis characterized by photosensitivity, telangiectasias, growth retardation and malignancies. Eye findings have rarely been mentioned in case reports of this syndrome. We report a child with Bloom syndrome who had pronounced bulbar conjunctival telangiectasia originally diagnosed as episcleritis. Bulbar telangiectasia are frequently described in other genodermatoses such as ataxia telangiectasia and hereditary hemorrhagic telangiectasia, but are infrequently noted in Bloom syndrome. Previously described eye findings in Bloom syndrome are reviewed and the differential diagnosis of bulbar telangiectasia is discussed. |
| Databáze: | OpenAIRE |
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