Table 2.

Epidemiological data and distribution of Junctional Epidermolysis Bullosa in the Netherlands for the time period 1988–2018, n = 87

†If no mutation analysis was performed or pathogenic mutation(s) could be found, the patients were still included in the calculation of the incidence and point‐prevalence for the concerned subtype of JEB (two stillborn patients, an induced partus of a foetus and a patient who was born and has died before 1988, were excluded in the calculations of the incidence and point‐prevalence, but included in the number of affected patients). ‡Incidence (per million live births) = total no. of new JEB‐patients born (1988–2018)/total no. of live births (1988–2018)*1 000 000. Total live births in the Netherlands from 01‐Jan‐1988 until 31‐Dec‐2018: 5 830 469 (StatLine, CBS). §Point‐prevalence (per million population) = total no. of JEB‐patients alive at a time point (31‐Dec‐2018)/population at a time point (31‐Dec‐2018)*1 000 000. Total Dutch population, 31‐Dec‐2018: 17 282 163 (StatLine, CBS). ¶The group of ‘Unsolved’ JEB‐patients consisted of the following; n = 3 JEB‐localized (n = 2 one pathogenic mutation in LAMA3, n = 1 one pathogenic mutation in ITGB4) and n = 2 JEB‐pyloric atresia (n = 1 one pathogenic mutation in ITGB4). ††The group of ‘No DNA’ JEB‐patients consisted of the following; n = 4 JEB‐severe, n = 2 JEB‐subtype unknown (two stillborn patients) and n = 1 JEB‐pyloric atresia.

EB, epidermolysis bullosa; JEB, junctional epidermolysis bullosa.