TY - JOUR
T1 - Late diagnosis of ectodermal dysplasia syndrome
AU - Granger, Robert
AU - Marshman, Gillian
AU - Liu, L
AU - McGrath, John
PY - 2013/2
Y1 - 2013/2
N2 - 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.
AB - 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.
KW - ectodermal dysplasia
KW - Schöpf-Schulz-Passarge syndrome
UR - http://www.scopus.com/inward/record.url?scp=84873406596&partnerID=8YFLogxK
U2 - 10.1111/j.1440-0960.2012.00895.x
DO - 10.1111/j.1440-0960.2012.00895.x
M3 - Article
SN - 0004-8380
VL - 54
SP - 46
EP - 48
JO - Australasian Journal of Dermatology
JF - Australasian Journal of Dermatology
IS - 1
ER -