Trichothiodystrophy and Chiari malformation type I in a child: more than a coincidence?

Eur J Dermatol. 2019 Oct 1;29(5):547-549. doi: 10.1684/ejd.2019.3662.

Authors

Andrea Diociaiuti¹, Elisa Pisaneschi², Barbara Spacca³, Claudia Cesario², Simona Giancristoforo¹, Andrea Bassi⁴, Giovanna Zambruno¹, May El Hachem¹

Affiliations

¹ Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
² Molecular Genetics Laboratory, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
³ Department of Neuroscience, Unit of Pediatric Neurosurgery, Anna Meyer Children's Hospital, Florence, Italy.
⁴ Department of Health Sciences, Unit of Dermatology, Anna Meyer Children's Hospital, Florence, Italy.

PMID: 31789278
DOI: 10.1684/ejd.2019.3662

No abstract available

Publication types

Case Reports

MeSH terms

Arnold-Chiari Malformation / complications*
Arnold-Chiari Malformation / diagnostic imaging
Child, Preschool
Humans
Magnetic Resonance Imaging
Male
Mutation, Missense
Trichothiodystrophy Syndromes / complications*
Trichothiodystrophy Syndromes / genetics
Xeroderma Pigmentosum Group D Protein / genetics

Substances

Xeroderma Pigmentosum Group D Protein
ERCC2 protein, human