Bloom Syndrome (Congenital Telangiectatic Erythema) Differential Diagnoses

Updated: Apr 15, 2019
  • Author: Amira M Elbendary, MD, MBBCh, MSc; Chief Editor: Dirk M Elston, MD  more...
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Diagnostic Considerations

Cockayne syndrome is differentiated by the presence of premature aging, deafness, mental retardation, and retinal degeneration.

Rothmund-Thomson syndrome is differentiated by the early onset of poikiloderma and cataracts.

Lupus erythematosus is differentiated by accompanying rheumatologic and serologic associations. However, McGown et al report a case of Bloom syndrome (congenital telangiectatic erythema) in which histologic findings were very similar to cutaneous lupus erythematosus. [46]

Erythropoietic protoporphyria is differentiated by the presence of red blood cell protoporphyrins and positive red blood cell fluorescence.

Differential Diagnoses