A case of Carvajal syndrome associated with cervical neuroblastoma in an 8-year-old girl

Int J Dermatol. 2019 May;58(5):611-613. doi: 10.1111/ijd.14154. Epub 2018 Aug 6.

Authors

Neslihan Akdogan¹, Pınar Incel-Uysal¹, Busranur Cavdarli², Vehap Topcu², Basak Yalcin¹

Affiliations

¹ Department of Dermatology and Venereology, Ankara Numune Education and Research Hospital, Ankara, Turkey.
² Department of Medical Genetics, Ankara Numune Education and Research Hospital, Ankara, Turkey.

PMID: 30079965
DOI: 10.1111/ijd.14154

No abstract available

Publication types

Case Reports

MeSH terms

Cardiomyopathies / complications
Cardiomyopathies / diagnosis*
Cardiomyopathies / genetics
Cardiomyopathy, Dilated
Child
Consanguinity
Desmoplakins / genetics*
Female
Genetic Testing
Hair Diseases / complications
Hair Diseases / diagnosis*
Hair Diseases / genetics
Homozygote
Humans
Keratoderma, Palmoplantar / complications
Keratoderma, Palmoplantar / diagnosis*
Keratoderma, Palmoplantar / genetics
Neck
Neuroblastoma / complications
Neuroblastoma / diagnosis*
Neuroblastoma / genetics
Pedigree

Substances

DSP protein, human
Desmoplakins

Supplementary concepts

Cardiomyopathy dilated with woolly hair and keratoderma