Epidermolysis bullosa simplex associated with muscular dystrophy and cardiac involvement

Journal of Clinical Neuromuscular Disease

Volumn 6, Issue 4, 2005, Pages 157-161

  Celik, Canan ^a,c   Uysal, Hilmi ^a   Heper, Aylin Okcu ^b   Karaoglan, Belgin ^b  

^a ANKARA PHYSICAL MEDICINE AND REHABILITATION EDUCATION AND RESEARCH HOSPITAL   (Turkey)

^b GAZI UNIVERSITY   (Turkey)

^c Tirebolu Sokak No: 53/10 ^*  (Turkey)

Author keywords

Cardiac involvement; Epidermolysis bullosa simplex; Muscular dystrophy

Indexed keywords

DESMIN;

ADULT; ARTICLE; CASE REPORT; DISEASE ASSOCIATION; ENDOMYSIAL FIBROSIS; EPIDERMOLYSIS BULLOSA; FEMALE; HEART ATRIUM FIBRILLATION; HEART DISEASE; HEART LEFT VENTRICLE WALL; HUMAN; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; MYOFIBROSIS; PERICARDIAL EFFUSION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; SARCOLEMMA;

EID: 20844448698     PISSN: 15220443     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.cnd.0000159779.32828.e7     Document Type: Article

References (20)

1. Dang M, Pulkinnen L, Smith FJD, et al. Novel compound heterozygous mutations in the plectin gene in epidermolysis bullosa with muscular dystrophy and the use of protein truncation test for detection of premature termination codon mutations. Lab Invest. 1998;78:195-204.
2. Doriguzzi C, Palmucci L, Mongini T, et al. Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa letalis. Eur Neurol. 1993;33:454-460.
3. Fine JD, Stenn J, Johnson L, et al. Autosomal recessive epidermolysis bullosa simplex: generalized phenotypic features suggestive of junctional or dystrophic epidermolysis bullosa, and association with neuromuscular diseases. Arch Dermatol. 1989; 125:931-938.
4. Kletter G, Evans OB, Lee JA, et al. Congenital muscular dystrophy and epidermolysis bullosa simplex. J Pediatr. 1989;114:104-107.
5. Schimizu H, Takizawa Y, Pulkkinen L, et al. Epidermolysis bullosa simplex associated with muscular dystrophy: phenotype-genotype correlations and review of the literature. J Am Acad Dermatol. 1999;41:950-956.
6. Mellerio JE, Smith FJD, McMillan JR, et al. Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases. Br J Dermatol. 1997;137: 898-906.
7. Schimizu H, Masunaga T, Kurihara Y, et al. Expression of plectin and HD1 epitopes in patients with epidermolysis bullosa simplex associated with muscular dystrophy. Arch Dermatol Res. 1999;291:531-537.
8. Rouan F, Pulkkinen L, Meneguzzi G, et al. Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy. J Invest Dermatol. 2000;114:381-387.
9. Kunz M, Rouan F, Pulkkinen L, et al. Epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin gene. J Invest Dermatol. 2000;114: 376-380.
10. Kurose K, Mori O, Hachisuka H, et al. Cultured keratinocytes from plectin/HD1-deficient epidermolysis bullosa simplex showed altered ability of adhesion to the matrix. J Dermatol Sci. 2000;24:184-189.
11. Bauer JW, Rouan F, Kofler B, et al. A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency. Am J Pathol. 2001;158:617-625.
12. Niemi KM, Sommer H, Kero M, et al. Epidermolysis bullosa simplex associated with muscular dystrophy with recessive inheritance. Arch Dermatol. 1988; 124:551-554.
13. Fine JD, Bauer EA, Briggaman RA, et al. Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry. J Am Acad Dermatol. 1991;24:119-135.
14. Pulkkinen L, Uitto J. Mutation analysis and molecular genetics of epidermolysis bullosa. Matrix Biol. 1999; 18:29-42.
15. Gache Y, Chavanas S, Lacour JP, et al. Defective expression of plectin/HD 1 in epidermolysis bullosa simplex with muscular dystrophy. J Clin Invest. 1996;97:2289-2298.
16. Schröder R, Kunz WS, Rouan F et al. Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy. J Neuropathol Exp Neurol. 2002;61:520-530.
17. Andra K, Lassmann H, Bittner R, et al. Targeted inactivation of plectin reveals essential function in maintaining the integrity of the skin, muscle, and heart cytoarchitecture. Genes Dev. 1997;1:3143-3156.
18. Takizawa Y, Shimizu H, Rouan F, et al. Four novel plectin gene mutations in Japanese patients with epidermolysis bullosa with muscular dystrophy-disclosed by heteroduplex scanning and protein truncation tests. J Invest Dermatol. 1999;112:109-112.
19. Chavanas S. Pulkkinen L, Gache Y, et al. A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy. J Clin Invest. 1996;98:2196-2200.
20. Pulkkinen L, Smith FJD, Shimizu H, et al. Homozygous deletion mutations in the plectin gene (PLEC-1) in patients with epidermolysis bullosa simplex with late-onset muscular dystrophy. Hum Mol Genet. 1996;5:1539-1546.