5 years ago

Trichothiodystrophy, complementation group A complicated with squamous cell carcinoma

T. Takeichi, S. Tomimura, M. Akiyama, M. Hamada, K. Sugiura, M. Kono, Y. Okuno
There are three related, clinically defined disorders of DNA repair: xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and Cockayne syndrome (CS).1 Photosensitivity, neurological/developmental abnormalities, and skin cancer are important pathological features that can be used to distinguish between these three archetypes.1,2 TTD is a rare, autosomal recessive disease characterized by brittle, sulfur-deficient hair and multisystem abnormalities.3 This article is protected by copyright. All rights reserved.

Publisher URL: http://onlinelibrary.wiley.com/resolve/doi

DOI: 10.1111/jdv.14531

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