Unexpected extradermatological findings in 31 patients with xeroderma pigmentosum type C (pages 1109–1113)
S. Hadj-Rabia, D. Oriot, N. Soufir, H. Dufresne, E. Bourrat, S. Mallet, N. Poulhalon, E. Ezzedine, B. Grandchamp, A. Taïeb, B. Catteau, A. Sarasin and C. Bodemer
Article first published online: 25 APR 2013 | DOI: 10.1111/bjd.12183
What’s already known about this topic?
Xeroderma pigmentosum type C (XP-C) is a rare, autosomal, recessive and cancer-prone disorder.
Basal cell carcinomas and squamous cell carcinomas are frequent.
Care is based on ocular and cutaneous photoprotection.
What does this study add?
A large, homogeneous series of genetically proven patients with XP-C has been studied.
Multinodular thyroid have been found, along with a risk of early adenocarcinoma, neurological involvement and unexplained relatively short stature, with height-for-weight z-scores below −1 SD.
Vol. 169, Issue 3, 726, Article first published online: 30 AUG 2013