What is the physical stigmata of inherited marrow-failure syndromes that may indicate aplastic anemia?

Updated: Jan 29, 2021
  • Author: Sameer Bakhshi, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

In any case of suspected aplastic anemia, look for physical stigmata of inherited marrow-failure syndromes, such as the following:

  • Abnormal skin pigmentation
  • Short stature
  • Renal, cardiac, and gastrointestinal (GI) abnormalities
  • Microcephaly
  • Microphthalmos
  • Hypogonadism
  • Skeletal anomalies

The oral pharynx, hands, and nail beds should be carefully examined for clues of inherited bone marrow-failure syndromes. Oral leukoplakia in dyskeratosis congenita is shown in the image below.

Oral leukoplakia in dyskeratosis congenita. Oral leukoplakia in dyskeratosis congenita.

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