Outcomes of 11 pregnancies in three patients with recessive forms of epidermolysis bullosa

Abstract

Madam, Pregnancy in the most severe recessive forms of epidermolysis bullosa (EB), such as junctional and recessive dystrophic EB, is rare with only six previously reported cases.1–6 We report three further cases, who collectively had 11 pregnancies, from our Australasian EB registry, all of whom had successful outcomes with normal vaginal delivery (NVD) and little flare of their EB. Case 1 (EB‐14) was a 36‐year‐old woman with non‐Herlitz junctional EB who was erroneously advised during her first pregnancy that her EB would flare due to pregnancy and to have a termination of pregnancy. With her subsequent pregnancy at age 26, she sought a second opinion. Immunofluorescence mapping in her case showed reduced staining with antibodies to laminin 5, β3 and γ2. Mutation studies identified two heterozygous LAMB3 mutations, R635X/1588delAG.7 We advised her that both the pregnancy and her baby should not be affected. During this pregnancy, she had pregnancy‐related urticaria; however, her blisters did not flare. She used gentian violet paint diluted onto her skin after a shower, air‐dried, with no dressings, and continued this during the pregnancy (Fig. 1). She had a NVD with induction at 39 weeks because of placental insufficiency and intrauterine growth restriction of the fetus, but had a live normal male baby with a birthweight of 2755 g and Apgar scores of 9 at 1 and 5 min. Blisters formed on her heels from her positioning during labour, which healed. Her labial tear, which was not sutured, also healed well. Her baby was bottle‐fed, because blisters formed around her nipples with breastfeeding and expressing milk.