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Cited by 48Skin and Cellular Biology ResearchGenetic and rare skin diseases.dental development and anomalies

The DOI matches its Crossref record.

Ectodermal dysplasia–skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1

Ersoy-Evans, Sibel, Erkin, Gül, Fassihi, Hiva, Chan, Ien, Paller, Amy S., Sürücü, Selçuk, McGrath, John A.·2006·Journal of the American Academy of Dermatology
DOI 10.1016/j.jaad.2005.10.002
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Abstract

We report an unusual case of an inherited disorder of the desmosomal protein plakophilin 1, resulting in ectodermal dysplasia-skin fragility syndrome. The affected 6-year-old boy had red skin at birth and subsequently developed skin fragility, progressive plantar keratoderma, nail dystrophy, and alopecia. Skin biopsy revealed widening of intercellular spaces in the epidermis and a reduced number of small, poorly formed desmosomes. Mutation analysis of the plakophilin 1 gene PKP1 revealed a homozygous deletion of C at nucleotide 888 within exon 5. This mutation differs from the PKP1 gene pathology reported in 8 previously published individuals with this rare genodermatosis. However, all cases show similar clinical features, highlighting the importance of functional plakophilin 1 in maintaining desmosomal adhesion in skin, as well as the role of this protein in aspects of ectodermal development.

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Crossref · 10.1016/j.jaad.2005.10.002

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  • Ectodermal dysplasia-skin fragility syndrome is caused by a mutation in plakophilin 1 and is characterized by features of ectodermal dysplasia and epidermolysis bullosa, such as skin fragility and erosions.

    “It is caused by a mutation in plakophilin 1, one of the proteins in the desmosomal complex. It is characterized by features of both ectodermal dysplasia like hypohydrosis, nail dystrophy, hypotrichosis, palmoplantar keratoderma, as well as epidermolysis bullosa, such as skin fragility and erosions.[60]”

    From Ectodermal Dysplasia – An Overview and Update (2024) · cites this paper as [60]

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Research works printed but not linked: 12

  1. McGrath, 1997, Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome, Nat Genet, 17, 241, 10.1038/ng1097-240 · DOI
  2. McGrath, 1999, Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1, Br J Dermatol, 140, 297, 10.1046/j.1365-2133.1999.02667.x · DOI
  3. Whittock, 2000, Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome, J Invest Dermatol, 15, 368, 10.1046/j.1523-1747.2000.00082.x · DOI
  4. Hamada, 2002, Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1, Exp Dermatol, 11, 107, 10.1034/j.1600-0625.2002.110202.x · DOI
  5. Sprecher, 2004, 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, 122, 647, 10.1111/j.0022-202X.2004.22335.x · DOI
  6. Steijlen, 2004, Cryptic splicing at a non-consensus splice-donor in a patient with a novel mutation in the plakophilin-1 gene, J Invest Dermatol, 122, 1321, 10.1111/j.0022-202X.2003.22302.x · DOI
  7. Zheng R, Bu DF, Zhu XJ. Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome. Acta Derm Venereol 2005;85:394-9. · DOI
  8. South, 2004, Plakophilin 1: an important stabilizer of desmosomes, Clin Exp Dermatol, 29, 161, 10.1111/j.1365-2230.2004.01467.x · DOI
  9. Moll, 1997, The distribution of the desmosomal protein, plakophilin 1, in human skin and skin tumors, J Invest Dermatol, 108, 139, 10.1111/1523-1747.ep12332388 · DOI
  10. Kury, 2002, Identification of SLC39A4, a gene involved in acrodermatitis enteropathica, Nat Genet, 31, 239, 10.1038/ng913 · DOI
  11. McMillan, 2001, Desmosomes: structure and function in normal and diseased epidermis, J Dermatol, 28, 291, 10.1111/j.1346-8138.2001.tb00136.x · DOI
  12. Gerull, 2004, Mutations in the desmosomal protein plakophilin-2 are common in arrhythymogenic right ventricular cardiomyopathy, Nat Genet, 36, 1162, 10.1038/ng1461 · DOI

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Metadata

Authors
Ersoy-Evans, S., Erkin, G., Fassihi, H., Chan, I., Paller, A. S., Sürücü, S., & McGrath, J. A.
Affiliations
  • Hacettepe University (TR)
  • St Thomas' Hospital (GB)
  • Northwestern University (US)
ORCID
Venue
Journal of the American Academy of Dermatology
Publisher
Elsevier BV
Published
2006-07
Volume
55
Issue
1
Pages
157-161
ISSN
0190-9622 (ISSN-L)
DOI
10.1016/j.jaad.2005.10.002
OpenAlex
W2057488074
Cited by
48
References
0
Citations by year
2026: 3 · 2025: 1 · 2024: 3 · 2023: 3 · 2020: 4 · 2019: 2 · 2018: 1 · 2017: 2 · 2015: 4 · 2014: 4 · 2013: 3 · 2012: 2
FWCI
0.82
Type
journal article
Language
en
Open access
closed
Licence
Locations
  • Journal of the American Academy of Dermatology (publishedVersion)
  • PubMed (publishedVersion)
  • Research Portal (King's College London) (submittedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Skin and Cellular Biology Research
  • Health Sciences › Medicine › Dermatology › Genetic and rare skin diseases.
  • Health Sciences › Dentistry › General Dentistry › dental development and anomalies
Keywords
plakophilin 1, desmosomal proteins, homozygous deletion, genodermatosis, desmosomal adhesion, plantar keratoderma, nail dystrophy, hair loss, ectodermal development
MeSH terms
Child, Ectodermal Dysplasia, Homozygote, Humans, Male, Mutation, Plakophilins

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