Late diagnosis of ectodermal dysplasia syndrome


  • Robert H Granger, MBBS. Gillian Marshman, FACD. Lu Liu, PhD. John A McGrath, FMedSci.

Dr Robert H Granger, Flinders Medical Centre, Flinders Drive, Bedford Park, 5042, South Australia, Australia. Email:


This case study reports the clinical, skin biopsy and molecular findings in a 56-year-old Filipino man with the autosomal recessive ectodermal dysplasia disorder, Schöpf-Schulz-Passarge syndrome, the precise nature of which was established only after reading of a similar case in this journal. In addition to the late diagnosis, successful clinical management of his acral hyperkeratosis and ulceration has been difficult, with oral retinoids exacerbating the skin fragility.