Rapp-Hodgkin syndrome and AEC syndrome: are they the same entity?

Authors

  • S. CAMBIAGHI,

    Corresponding author
    1. Centre for Inherited Skin Diseases, 1st Department of Dermatology and Paediatric Dermatology, Policlinico di Milano-IRCCS, University of Milan, Italy
    Search for more papers by this author
  • G. TADINI,

    1. Centre for Inherited Skin Diseases, 1st Department of Dermatology and Paediatric Dermatology, Policlinico di Milano-IRCCS, University of Milan, Italy
    Search for more papers by this author
  • M. BARBARESCHI,

    1. Centre for Inherited Skin Diseases, 1st Department of Dermatology and Paediatric Dermatology, Policlinico di Milano-IRCCS, University of Milan, Italy
    Search for more papers by this author
  • S. MENNI,

    1. Centre for Inherited Skin Diseases, 1st Department of Dermatology and Paediatric Dermatology, Policlinico di Milano-IRCCS, University of Milan, Italy
    Search for more papers by this author
  • R. CAPUTO

    1. Centre for Inherited Skin Diseases, 1st Department of Dermatology and Paediatric Dermatology, Policlinico di Milano-IRCCS, University of Milan, Italy
    Search for more papers by this author

Dr S. Cambiaghi, Centre Malattie Cutanee Ereditarie, Clinica Dermatologica 1, Via Pace 9, 20122 Milano, Italy.

Abstract

Summary Rapp-Hodgkin syndrome and AEC syndrome are two disorders in which ectodermal dysplasia and clefting are associated. Rapp-Hodgkin syndrome is an autosomal dominant condition characterized by cleft lip and palate, peculiar craniofacial features, and ectodermal dysplasia, consisting of abnormalities of teeth, hair, nails and sweating. AEC syndrome manifests the same defects plus ankyloblepharon and a higher frequency of scalp dermatitis. A child affected by ectodermal dysplasia associated with clefting, ankyloblepharon, severe scalp dermatitis, and the characteristic Rapp– Hodgkin fades is reported. The overlap between Rapp–Hodgkin syndrome and AEC syndrome is discussed. Critical review of both disorders suggests that AEC syndrome and Rapp–Hodgkin syndrome represent the same entity.

Ancillary