Epidermolysis Bullosa Simplex Associated with Severe Mucous Membrane Involvement and Novel Mutations in the Plectin Gene
| Autor: | Gerhard Wiche, Leena Bruckner-Tuderman, Jouni Uitto, Fatima Rouan, Reinhard Jeschke, Henning Hamm, Detlef Zillikens, Leena Pulkkinen, Eva-Bettina Bröcker, Manfred Kunz |
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| Jazyk: | angličtina |
| Předmět: |
muscular dystrophy
Pathology medicine.medical_specialty medicine.diagnostic_test Hemidesmosome Nonsense mutation Mucous membrane cytoskeleton Cell Biology Dermatology Plectin Biology medicine.disease Biochemistry Epidermolysis bullosa simplex medicine.anatomical_structure hemidesmosomes Skin biopsy medicine Epidermolysis bullosa Muscular dystrophy Molecular Biology mutation analysis |
| Zdroj: | Journal of Investigative Dermatology. (2):376-380 |
| ISSN: | 0022-202X |
| DOI: | 10.1046/j.1523-1747.2000.00856.x |
| Popis: | We report a novel case of epidermolysis bullosa simplex with severe mucous membrane involvement and mutations in the plectin gene (PLEC1). The patient suffered from extensive blistering of the skin and oral and laryngeal mucous membranes. Electron microscopy of a lesional skin biopsy showed cleft formation within the basal cell layer of the epidermis. Antigen mapping displayed entirely negative staining for plectin, a large (>500 kDa) multifunctional adhesion protein present in hemidesmosomes of the basal keratinocytes. Mutation analysis revealed compound heterozygous, previously undisclosed nonsense mutations, Q1713X and R2351X, of paternal and maternal origin, respectively, within exon 32 of PLEC1. Based on earlier reports, plectin deficiency is associated with late onset muscular dystrophy in patients with epidermolysis bullosa. No signs of muscle weakness have been observed during the 4 y follow-up of our patient. This case illustrates the fact that molecular pathological analyses have prognostic implications in identification and evaluation of patients who appear to be at risk for development of muscular dystrophy later in life. |
| Databáze: | OpenAIRE |
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