Kids with a severe skin disease called recessive dystrophic epidermolysis bullosa grow poorly and have low levels of growth hormone (GH) and IGF‑1. The study shows that poor nutrition, anemia, and especially chronic inflammation seem to suppress the GH/IGF‑1 system. Raising IGF‑1 might help, but the research is in sick children, not healthy adults.

Epidermolysis bullosa dystrophica (EBD) is characterized by mucocutaneous fragility with blistering, scarring and severe growth retardation attributed to many factors. This cross-sectional study included 51 patients aged 1-12 years with recessive dystrophic EB (RDEB). Weight and height were measured, with the calculation of weight standard deviation (SD), height SD, and body mass index (BMI), followed by plotting them on Egyptian growth curves. Serum levels of basal growth hormone (GH), insulin-like growth factor 1 (IGF-1), hemoglobin (Hb) level, erythrocyte sedimentation rate (ESR), and thyroid functions (TSH and free T4) were measured. Growth hormone stimulation test was performed in 11 patients. Weight SD and height SD were lower than normal measurements (p < 0.05*). Growth hormone, growth hormone stimulation, and IGF-1 were lower than the normal range (p < 0.05*). Hb levels were lower than normal, whereas ESR levels were elevated (p < 0.001*). A negative correlation was found between ESR and basal GH, and a positive correlation between ESR and IGF-1. Children with generalized RDEB have poor growth and low circulating GH and IGF-1 levels, likely due not only to malnutrition and anemia, but possibly also as a consequence of inflammation that suppresses the GH/IGF-1 axis. Future treatments targeting the correction of GH and IGF-1 levels as well as the chronic inflammatory state should be considered. ClinicalTrials.gov identifier: NCT05390073.