Blooms syndrome

Synonym(s)

Bloom syndrome; congenital telangiectatic erythema

Definition

Autosomal recessive disorder characterized by telangiectases and photosensitivity, growth deficiency, a variable degree of immunodeficiency, and increased susceptibility to neoplasms

Pathogenesis

Mutation in the gene designated BLM, on i5q26.i; protein encoded by the normal gene has DNA helicase activity and functions in the maintenance of genomic stability; mutation likely responsible for the phe-notype and the cancer predisposition

Clinical manifestation

Telangiectatic erythema in photodistrib-uted pattern; cheilitis; café au lait macules; bird-like facies; malar hypoplasia, small mandible; large, protruding ears; growth delay; short stature; malignancies, such as acute leukemia, lymphoma, and gastrointestinal adenocarcinoma

Differential diagnosis

Cockayne syndrome; Rothmund-Thomson syndrome; lupus erythematosus; erythro-poietic protoporphyria

Therapy

No specific treatment; sun protection

References

German J (1995) Bloom's syndrome. Dermatolog-ic Clinics i3(i):7-i8

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