Late diagnosis of ectodermal dysplasia 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.
Flinders Medical Centre, Adelaide, Australia. Robert.Granger@mac.com
Robert H
RH
Granger
Gillian
G
Marshman
Lu
L
Liu
John A
JA
McGrath
D000367:Age Factors; D000848:Anodontia / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy; D057210:Delayed Diagnosis; D004439:Eccrine Glands / Q000002:abnormalities*; D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy; D005142:Eyelid Neoplasms / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy; D006801:Humans; D007039:Hypotrichosis / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy; D007645:Keratoderma, Palmoplantar / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy; D008297:Male; D008875:Middle Aged