Mutations within keratin 14 (KRT14) result in an abnormal fragility of epithelial cells and are detected in epidermolysis
bullosa simplex, a group of heritable skin blistering disorders [
1
,
2
]. We present a 14-year-old boy, who was referred to our Dermatology Department 8 years
ago presenting disseminated hemorrhagic blisters in herpetiform arrangement localized
on the thorax, extremities and face. The general blister formation started at birth
and progressed during the neonatal period. Skin symptoms were very severe. No family
members were affected. With time the symptoms improved. At the age of 13, the patient
presented with palmoplantar hyperkeratosis and nail hypertrophy plus occasional blistering.
The diagnosis of epidermolysis bullosa simplex Dowling-Meara (EBS, DM) was established
on the basis of clinical symptoms and immunofluorescence mapping (IFM) study, in which
the skin specimen is labeled with a series of antibodies to determine their binding
sites and thus precisely the level of skin cleavage. IFM study on the patient's lesional
skin using anti-beta 4 integrin and anti-collagen IV antibodies showed intraepidermal
separation with both markers located on the blister floor.Keywords
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References
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- Easy method for keratin 14 gene amplification to exclude pseudogene sequences: new keratin 5 and 14 mutations in epidermolysis bullosa simplex.J Invest Dermatol. 2009; 129: 229-231
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Article info
Publication history
Published online: July 12, 2010
Received:
May 15,
2009
Identification
Copyright
© 2009 Japanese Society for Investigative Dermatology. Published by Elsevier Inc. All rights reserved.
