Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: intrafamilial overlap of phenotypes in patients with the same KRT14 frameshift variant

Br J Dermatol. 2019 Oct;181(4):864-866. doi: 10.1111/bjd.17997. Epub 2019 Jul 15.

Authors

B Burger¹, I Spoerri¹, E Imahorn¹, H Wariwoda¹, T Leeb^{2

3}, P H Itin^{1

4}

Affiliations

¹ Department of Biomedicine, University Hospital Basel and University of Basel, Switzerland.
² Institute of Genetics, Vetsuisse Faculty, University of Bern, Switzerland.
³ Dermfocus, University of Bern, Switzerland.
⁴ Department of Dermatology, University Hospital Basel, Switzerland.

PMID: 30968399
DOI: 10.1111/bjd.17997

No abstract available

Publication types

Letter

MeSH terms

Alleles
Alopecia / diagnosis
Alopecia / genetics*
Alopecia / pathology
Ectodermal Dysplasia / diagnosis
Ectodermal Dysplasia / genetics*
Ectodermal Dysplasia / pathology
Frameshift Mutation
Humans
Hyperpigmentation / diagnosis
Hyperpigmentation / genetics*
Hyperpigmentation / pathology
Hypohidrosis / diagnosis
Hypohidrosis / genetics*
Hypohidrosis / pathology
Keratin-14 / genetics*
Keratoderma, Palmoplantar / diagnosis
Keratoderma, Palmoplantar / genetics*
Keratoderma, Palmoplantar / pathology
Nail Diseases / diagnosis
Nail Diseases / genetics*
Nail Diseases / pathology
Phenotype*
Skin / pathology
Skin Neoplasms / diagnosis
Skin Neoplasms / genetics*
Skin Neoplasms / pathology

Substances

KRT14 protein, human
Keratin-14

Supplementary concepts

Dermatopathia pigmentosa reticularis
Naegeli syndrome

Grants and funding

CRSII3_160738/SNF/International