{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T01:04:45Z","timestamp":1790989485851,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2002,5,2]],"date-time":"2002-05-02T00:00:00Z","timestamp":1020297600000},"content-version":"vor","delay-in-days":31,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2002,4]]},"abstract":"<jats:p><jats:bold>Abstract:<\/jats:bold> We report a 42\u2010year\u2010old Japanese man with an unusual autosomal recessive genodermatosis. The clinical features comprised normal skin at birth, loss of scalp hair at 3\u2010months of age after a febrile illness, progressive nail dystrophy during infancy, palmoplantar keratoderma starting around the age of 18\u2003years and trauma\u2010induced skin fragility and blisters noted from the age of 20\u2003years. Skin biopsy of rubbed non\u2010lesional skin revealed widening of spaces between adjacent keratinocytes from the suprabasal layer upwards. Electron microscopy demonstrated a reduced number of hypoplastic desmosomes. Immunohistochemical labeling showed a reduction in intercellular staining for the desmosome component plakophilin 1. Mutation analysis revealed a homozygous intron 11 donor splice site mutation in the plakophilin 1 gene, 2021+1 G&gt;A (GenBank no. Z34974). RT\u2010PCR, using RNA extracted from the skin biopsy, provided evidence for residual low levels of the full\u2010length wild\u2010type transcript (\u223c8%) as well as multiple other near full\u2010length transcripts, one of which was in frame leading to deletion of 17 amino acids from the 9th arm\u2010repeat unit of the plakophilin 1 tail domain. Thus, the molecular findings help explain the clinical features in the patient, who has a similar but milder phenotype to previously reported patients with skin fragility\u2010ectodermal dysplasia syndrome associated with complete ablation of plakophilin 1 (OMIM 604536). This new \u2018mitis\u2019 phenotype provides further clinicopathological evidence for the role of plakophilin 1 in keratinocyte cell\u2013cell adhesion and ectodermal development.<\/jats:p>","DOI":"10.1034\/j.1600-0625.2002.110202.x","type":"journal-article","created":{"date-parts":[[2003,3,11]],"date-time":"2003-03-11T20:27:37Z","timestamp":1047414457000},"page":"107-114","source":"Crossref","is-referenced-by-count":52,"title":["Genotype\u2013phenotype correlation in skin fragility\u2010ectodermal dysplasia syndrome resulting from mutations in plakophilin 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