Pili torti, pale and elastic skin, and severe neurological impairment

J Dtsch Dermatol Ges. 2018 Mar;16(3):360-363. doi: 10.1111/ddg.13407. Epub 2017 Dec 30.

Authors

Laura Cristina Gironi¹, Cinzia Peruzzi², Valentina Chierici¹, Agostina Marolda¹, Amanda Papa², Francesca Zottarelli¹, Paola Savoia¹, Gianni Bona¹, Enrico Colombo³

Affiliations

¹ Department of Health Sciences, A. Avogadro University of Eastern Piedmont, Novara, Italy.
² Division of Child Neurology and Psychiatry, Maggiore della Carità Hospital, Novara, Italy.
³ Department of Translational Medicine, A. Avogadro University of Eastern Piedmont, Novara, Italy.

PMID: 29288599
DOI: 10.1111/ddg.13407

No abstract available

Publication types

Case Reports

MeSH terms

Cerebral Arteries / abnormalities
Cerebral Arteries / diagnostic imaging
Copper-Transporting ATPases / genetics
Craniofacial Abnormalities / diagnosis*
Craniofacial Abnormalities / genetics
Early Diagnosis
Epilepsies, Partial / diagnosis*
Epilepsies, Partial / genetics
Exons / genetics
Growth Disorders / diagnosis*
Growth Disorders / genetics
Hair / abnormalities
Hair / pathology
Hair Diseases / diagnosis*
Hair Diseases / genetics
Humans
Infant
Magnetic Resonance Imaging
Male
Menkes Kinky Hair Syndrome / diagnosis*
Menkes Kinky Hair Syndrome / genetics
Point Mutation / genetics
Skull / abnormalities
Skull / diagnostic imaging

Substances

ATP7A protein, human
Copper-Transporting ATPases

Supplementary concepts

Pili torti developmental delay neurological abnormalities