A Single Center Retrospective Chart Review of Monitoring Laboratory Tests in Recessive Dystrophic Epidermolysis Bullosa.
Anemia found in 86% of patients with recessive dystrophic epidermolysis bullosa
A Single Center Retrospective Chart Review of Monitoring Laboratory Tests in Recessive Dystrophic Epidermolysis Bullosa.
Recessive dystrophic epidermolysis bullosa (recessive dystrophic epidermolysis bullosa) is a rare genodermatosis characterized by skin fragility and systemic complications, including anemia, inflammation, and nutritional deficiencies.
To characterize the frequency of nutritional deficiencies and earliest age of laboratory abnormalities in a cohort of recessive dystrophic epidermolysis bullosa patients.
A retrospective chart review of 122 patients with recessive dystrophic epidermolysis bullosa seen at a tertiary care EB center (2010-2021) was conducted.
most recessive dystrophic epidermolysis bullosa patients had anemia
Inflammatory markers were frequently elevated: C-reactive protein (c-reactive protein) (100%, 74/74) and ESR (81%, 71/88), including in patients < 2 years.
Hypoalbuminemia was present in 69% of patients (77/112), particularly among those younger than 16 years.
Thrombocytosis occurred in 41% (49/120).
Mean height-for-age percentile decreased sharply from the 61st to the 30th %ile between ages 0-1.99 and 2-3.99 years.
Nutritional, hematologic, and inflammatory abnormalities are common and often present, even in infancy, among patients with recessive dystrophic epidermolysis bullosa.
These findings underscore the need for standardized, age-specific laboratory monitoring protocols beginning in early childhood.
Early recognition of and intervention for abnormalities may improve long-term outcomes in this medically complex population.