PLACK syndrome: the penny dropped

Clin Exp Dermatol. 2020 Dec;45(8):1091-1092. doi: 10.1111/ced.14417. Epub 2020 Sep 12.

Authors

S O'Sullivan¹, L Ozoemena², L Liu², J A McGrath¹, J E Mellerio¹, A E Martinez³

Affiliations

¹ St John's Institute of Dermatology, King's College London, Guy's Hospital, London, UK.
² National Diagnostic EB Laboratory, Viapath, St Thomas' Hospital, London, UK.
³ Dermatology Department, Great Ormond Street Hospital, NHS Foundation Trust, London, UK.

PMID: 32918489
DOI: 10.1111/ced.14417

No abstract available

Publication types

Case Reports

MeSH terms

Afghanistan / ethnology
Calcium-Binding Proteins / genetics*
Cheilitis / genetics
Cheilitis / pathology
Child, Preschool
Codon, Nonsense
Diagnosis, Differential
Exome Sequencing / standards
Female
Heterozygote
Humans
Hypopigmentation / genetics
Hypopigmentation / pathology
Keratosis / genetics
Keratosis / pathology
Nail Diseases / congenital
Nail Diseases / genetics
Nail Diseases / pathology
Parents
Skin Diseases / congenital*
Skin Diseases / diagnosis
Skin Diseases / genetics
Skin Diseases / pathology
Skin Diseases, Genetic / genetics*

Substances

CAST protein, human
Calcium-Binding Proteins
Codon, Nonsense

Supplementary concepts

Leukonychia totalis
Peeling skin syndrome, acral type