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

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Abstract

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
Volume96
Issue number6
DOIs
Publication statusPublished - Sep 1 2016

Fingerprint

Ectodermal Dysplasia
Newborn Infant
Lower Extremity
Epidermolysis Bullosa Dystrophica
genealogy
Skin
Blister
Nails
Cicatrix
Fluorescent Antibody Technique
Mutation
Newborn

Keywords

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

ASJC Scopus subject areas

  • Dermatology

Cite this

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title = "Frequent occurrence of aplasia cutis congenita in bullous dermolysis of the newborn",
abstract = "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.",
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author = "Andrea Diociaiuti and Daniele Castiglia and Simona Giancristoforo and Liliana Guerra and Vittoria Proto and Andrea Dotta and Renata Boldrini and Giovanna Zambruno and {El Hachem}, May",
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T1 - Frequent occurrence of aplasia cutis congenita in bullous dermolysis of the newborn

AU - Diociaiuti, Andrea

AU - Castiglia, Daniele

AU - Giancristoforo, Simona

AU - Guerra, Liliana

AU - Proto, Vittoria

AU - Dotta, Andrea

AU - Boldrini, Renata

AU - Zambruno, Giovanna

AU - El Hachem, May

PY - 2016/9/1

Y1 - 2016/9/1

N2 - 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.

AB - 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.

KW - Aplasia cutis congenita

KW - Bullous dermolysis

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KW - Dystrophic epidermolysis bullosa

KW - Missense mutation. Mutation

KW - Newborn

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