Frequent occurrence of aplasia cutis congenita in bullous dermolysis of the newborn

Andrea Diociaiuti, Daniele Castiglia, Simona Giancristoforo, Liliana Guerra, Vittoria Proto, Andrea Dotta, Renata Boldrini, Giovanna Zambruno, May El Hachem

Research output: Contribution to journalArticlepeer-review


Bullous dermolysis of the newborn (BDN) is a subtype of dystrophic epidermolysis bullosa characterized by rapid improvement in skin fragility within the first months of life, associated with typical immunofluorescence and ultrastructural features. Inheritance can be autosomal dominant or recessive. We report here 4 cases of BDN, 2 of which presented with aplasia cutis congenita of the lower extremities. All patients improved rapidly and blister formation ceased by the third month of life in 3 cases. In these patients only residual milia, nail dystrophies and atrophic scarring at sites of aplasia cutis were visible by one year. Family history indicated dominant inheritance in 2 cases, confirmed by identification of COL7A1 mutation. Molecular analysis also revealed recessive inheritance in the 2 sporadic cases. A literature search identified several patients with BDN born with skin defects localized to the lower extremities. In conclusion, these findings indicate that aplasia cutis congenita is not an infrequent manifestation of BDN.

Original languageEnglish
Pages (from-to)784-787
Number of pages4
JournalActa Dermato-Venereologica
Issue number6
Publication statusPublished - Sep 1 2016


  • Aplasia cutis congenita
  • Bullous dermolysis
  • COL7A1
  • Dystrophic epidermolysis bullosa
  • Missense mutation. Mutation
  • Newborn

ASJC Scopus subject areas

  • Dermatology


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