Aplasia cutis congenita, congenital heart lesions, and frontonasal cysts in four successive generations

Clin Genet. 2007 Jun;71(6):558-60. doi: 10.1111/j.1399-0004.2007.00806.x.

Abstract

We report a family with four known generations of individuals in the maternal family tree with aplasia cutis congenita (ACC) of the scalp, congenital heart lesions, brachydactyly, and frontonasal cysts. This is the first reported finding of craniofacial, digital, and cardiac abnormalities associated with ACC, likely representing a new variant of the autosomal dominant hidrotic ectodermal dysplasia subtype. These rare disorders are characterized by common anomalies of at least two elements of the ectoderm and its appendages, namely the skin, teeth, hair, nails, and sweat glands. These patients also frequently have chronic dental problems with early loss of teeth, and recurrent lung, ear, and nose infections secondary to a defect in mucous membrane function. The clinical findings in these patients are delineated and compared to patients with other forms of ectodermal dysplasia in the literature.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Craniofacial Abnormalities / pathology
  • Cysts / pathology*
  • Ectodermal Dysplasia / pathology*
  • Family Health
  • Female
  • Heart Defects, Congenital / pathology*
  • Humans
  • Infant, Newborn
  • Limb Deformities, Congenital / pathology
  • Male
  • Nose Diseases / pathology
  • Pedigree
  • Scalp