ABSTRACT
This report is the first to describe constitutional aplastic anemia in a patient with Rothmund-Thomson syndrome (also called poikiloderma congenitale), a disease characterized by multiple cutaneous and extracutaneous findings. The findings suggest that although Rothmund-Thomson syndrome is a rare disease, vigilance for the development of associated hematologic abnormalities is warranted.
Subject(s)
Anemia, Aplastic/complications , Hematopoietic Stem Cells/pathology , Rothmund-Thomson Syndrome/complications , Anemia, Aplastic/diagnosis , Bone Marrow/pathology , Child, Preschool , Female , Humans , Rothmund-Thomson Syndrome/diagnosis , Skin/pathologyABSTRACT
Congenital erosive and vesicular dermatosis healing with reticulated, supple scarring is a rare disease with seven reported cases in the literature. This congenital cutaneous defect of unknown etiology presents with patchy or generalized erosions and vesicles at birth that heal with striking reticulated scarring. We report three new cases of this rare disease and review the literature.