Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: A molecular genetic study

Experimental Dermatology

Volumn 8, Issue 2, 1999, Pages 146-152

  Christiano, A M ^a,c   Crollick, J ^b   Pincus, S ^b   Uitto, Jouni ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b UNIVERSITY AT BUFFALO   (United States)

^c Stt Univ New York ^*  (United States)

Author keywords

Epidermolysis bullosa; Squamous cell carcinoma; Type VII collagen mutations

Indexed keywords

ARGININE; COLLAGEN TYPE 4; GLYCINE; HETERODUPLEX;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLISTER; CLINICAL FEATURE; DERMOEPIDERMAL JUNCTION; DISEASE ASSOCIATION; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EROSION; GENE AMPLIFICATION; GENE MUTATION; GENODERMATOSIS; HISTOPATHOLOGY; HUMAN; METASTASIS; NUCLEOTIDE SEQUENCE; PEDIGREE; PROGNOSIS; SCAR FORMATION; SQUAMOUS CELL CARCINOMA;

EID: 0032956950     PISSN: 09066705     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0625.1999.tb00364.x     Document Type: Article

References (20)

1. McGrath J A, Schofield O M V, Mayou B J, McKee P H, Eady R A J. Epidermolysis bullosa complicated by squamous cell carcinoma: report of 10 cases. J Cutan Pathol 1992: 19: 116-123.
2. Reed W B, Roenigk H, Dorner W et al. Epidermal neoplasms with epidermolysis bullosa dystrophica with the first report of carcinoma with the acquired type. Arch Dermatol Res 1975: 253: 1-14.
3. Schwartz R A, Birnkrant A P, Rubenstein D J et al. Squamous cell carcinoma in dominant type epidermolysis bullosa dystrophica. Cancer 1981: 47: 615-620.
4. Song I C, Dicksheet S. Management of squamous cell carcinoma in a patient with dominant-type epidermolysis bullosa dystrophica: a surgical challenge. Plast Reconstr Surg 1985: 75: 732-736.
5. Järvikallio A, Pulkkinen L, Uitto J. Molecular basis of dystrophic epidermolysis bullosa: Mutations in the type VII collagen gene (COL7A1). Hum Mut 1997: 10: 338-347.
6. Uitto J, Hovnanian A, Christiano A M. Premature termination codon mutations in the type VII collagen gene (COL7A1) underlie severe recessive dystrophic epidermolysis bullosa. Proc Assoc Am Phys 1995: 107: 245-252.
7. Uitto J, Pulkkinen L, McLean W H I. Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneity. Molec Med Today 1997: 3: 457-465.
8. Christiano A M, McGrath J A, Tan K C, Uitto J. Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance. Am J Hum Genet 1996: 58: 671-681.
9. Christiano A M, Bart B J, Epstein E H, Uitto J. Genetic basis of Bart's syndrome: A glycine substitution in the type VII collagen gene. J Invest Dermatol 1996: 106: 778-780.
10. Christiano A M, Lee J Y-Y, Chen W J, LaForgia S, Uitto J. Pretibial epidermolysis bullosa: Genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen. Hum Mol Genet 1995: 4: 1579-1583.
11. Lee J Y-Y, Pulkkinen L, Liu H-S, Chen Y-F, Uitto J. A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa. J Invest Dermatol 1997: 108: 947-949.
12. Christiano A M, Fine J D, Uitto J. Genetic basis of dominantly inherited transient bullous dermolysis of the newborn: A splice site mutation in the type VII collagen gene. J Invest Dermatol 1997: 109: 811-814.
13. Christiano A M, Hoffman C G, Zhang X et al. A strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa. Hum Mutat 1997: 10: 408-414.
14. Ganguly A, Rock M J, Prockop D J. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 1993: 90: 10325-10329.
15. Christiano A M, Uitto J. Molecular diagnosis of inherited skin diseases: The paradigm of dystrophic epidermolysis bullosa. Adv Dermatol 1996: 11: 199-214.
16. Kon A, McGrath J A, Pulkkinen L et al. Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: Implications for genetic counseling. J Invest Dermatol 1997: 108: 224-228.
17. Goldberg G I, Eisen A Z, Bauer E A. Tissue stress and tumor promotion. Possible relevance to epidermolysis bullosa. Arch Dermatol 1988: 124: 737.
18. Smoller B A, McNutt N S, Carter D M, Gottlieb A B. Hsu A, Krueger J. Recessive dystrophic epidermolysis bullosa skin displays a chronic growth-activated immunophenotype. Arch Dermatol 1990: 126: 78.
19. Tyring S K, Chopra V, Johnson I, Fine J-D. Natural killer cell activity is reduced in patients with severe forms of inherited epidermolysis bullosa. Arch Dermatol 1989: 125: 797.
20. Christiano A M, Uitto J. Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa. Exp Derm 1996: 5: 1-11.