Case ReportEctodermal dysplasia–skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1
Section snippets
Case report
A 6-year-old-boy had peeling and fragility of his skin since birth. His mother stated that he was born with generalized erythema and erosions, and that minor trauma resulted in skin peeling. His parents were first cousins and had a similarly affected child who died at 5 months of age.
As a neonate this patient also had diarrhea, and skin biopsy at that time showed spongiosis and loss of keratinocyte adhesion, consistent with a diagnosis of acrodermatitis enteropathica. Treatment with oral zinc
Discussion
In 1997, McGrath et al1 described the first case of a human genetic disease resulting from inherited mutations in a structural component of desmosomes. The clinical features included skin erosions and peeling with histologic evidence of keratinocyte separation, clinicopathological findings that were consistent fully with desmosomal pathology. However, there also were early changes in hair and nails, suggesting that plakophilin 1 had an additional role in the development of certain ectodermal
References (12)
- et al.
Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome
J Invest Dermatol
(2000) - et al.
Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families
J Invest Dermatol
(2004) - et al.
Cryptic splicing at a non-consensus splice-donor in a patient with a novel mutation in the plakophilin-1 gene
J Invest Dermatol
(2004) - et al.
The distribution of the desmosomal protein, plakophilin 1, in human skin and skin tumors
J Invest Dermatol
(1997) - et al.
Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome
Nat Genet
(1997) - et al.
Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1
Br J Dermatol
(1999)
Cited by (34)
Ectodermal dysplasias: A clinical and molecular review
2013, Actas Dermo-SifiliograficasCitation Excerpt :It is caused by mutation in the plakophilin gene (PKP1), located on chromosome 1 (locus 1q32).157 PKP1 is a structural component of desmosomes and is expressed in the stratified squamous epithelium, the myocardium, the meninges, and part of the lymph nodes.158 Like other types of epidermolysis bullosa, the condition is characterized by substantial trauma-induced skin fragility, generalized erythema, alopecia, nail dystrophy, and focal keratoderma with painful fissures (Fig. 17).
The biology of the desmosome-like junction. A versatile anchoring junction and signal transducer in the seminiferous epithelium
2011, International Review of Cell and Molecular BiologyEctodermal Dysplasia-Skin Fragility Syndrome
2010, Dermatologic ClinicsDisorders of epidermal maturation and keratinization
2009, Weedon's Skin Pathology: Third EditionMutations in genes encoding desmosomal proteins: spectrum of cutaneous and extracutaneous abnormalities*
2021, British Journal of Dermatology
Funding sources: Laboratory research funding from the Dystrophic Epidermolysis Bullosa Research Association (DebRA, UK) and the National Foundation for Ectodermal Dysplasias is gratefully acknowledged.
Conflicts of interest: None identified.
Reprints not available from the authors.