A Single Center Retrospective Chart Review of Monitoring Laboratory Tests in Recessive Dystrophic Epidermolysis Bullosa.

BACKGROUND

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genodermatosis characterized by skin fragility and systemic complications, including anemia, inflammation, and nutritional deficiencies. The prevalence and age of onset of monitoring laboratory tests remain poorly defined in the current literature.

OBJECTIVE

To characterize the frequency of nutritional deficiencies and earliest age of laboratory abnormalities in a cohort of RDEB patients.

METHODS

A retrospective chart review of 122 patients with RDEB seen at a tertiary care EB center (2010-2021) was conducted. Laboratory and anthropometric data from initial visits were stratified by age group and compared to institutional reference ranges.

RESULTS

Inflammatory markers were frequently elevated: C-reactive protein (CRP) (100%, 74/74) and ESR (81%, 71/88), including in patients < 2 years. Anemia (86%, 98/114) and iron deficiency (84%, 80/95) were highly prevalent. Hypoalbuminemia was present in 69% of patients (77/112), particularly among those younger than 16 years. Thrombocytosis occurred in 41% (49/120). Anthropometric measures revealed early declines in weight-for-age and height-for-age percentiles and persistently low BMI. Mean height-for-age percentile decreased sharply from the 61st to the 30th %ile between ages 0-1.99 and 2-3.99 years. Vitamin D deficiency (using a 30 ng/mL cutoff) affected 49% (44/90), especially those > 8 years. Zinc and carnitine levels declined with increasing age, but the majority of patients had values within normal limits. Magnesium, selenium, phosphorus, and thyroid studies were within normal limits for most patients.

CONCLUSIONS

Nutritional, hematologic, and inflammatory abnormalities are common and often present, even in infancy, among patients with RDEB. 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.