Robert H Granger, MBBS. Gillian Marshman, FACD. Lu Liu, PhD. John A McGrath, FMedSci.
Late diagnosis of ectodermal dysplasia syndrome
Article first published online: 4 JUN 2012
© 2012 The Authors. Australasian Journal of Dermatology © 2012 The Australasian College of Dermatologists
Australasian Journal of Dermatology
Volume 54, Issue 1, pages 46–48, February 2013
How to Cite
Granger, R. H., Marshman, G., Liu, L. and McGrath, J. A. (2013), Late diagnosis of ectodermal dysplasia syndrome. Australasian Journal of Dermatology, 54: 46–48. doi: 10.1111/j.1440-0960.2012.00895.x
- Issue published online: 4 FEB 2013
- Article first published online: 4 JUN 2012
- Submitted 15 February 2012; accepted 22 March 2012.
- ectodermal dysplasia;
- Schöpf-Schulz-Passarge syndrome
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.