Dyskeratosis congenita

Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

Peripheral neuropathy

Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.


Total: 2

                      


(per page)
PMID (PMCID)
15843075
MALE
Peripheral neuropathy--a novel finding in dyskeratosis congenita.
Ip P, Knight R, Dokal I, Manzur AY, Muntoni F.
Eur J Paediatr Neurol. 2005;9(2):85-9.
To the best of our knowledge, peripheral neuropathy has never been reported as a feature of the congenital form of dyskeratosis congenita.
15843075
MALE
Peripheral neuropathy--a novel finding in dyskeratosis congenita.
Ip P, Knight R, Dokal I, Manzur AY, Muntoni F.
Eur J Paediatr Neurol. 2005;9(2):85-9.
Peripheral neuropathy--a novel finding in dyskeratosis congenita.