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Keywords:

  • ectodermal dysplasia;
  • Schöpf-Schulz-Passarge syndrome

ABSTRACT

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.