Bart’s syndrome: a case report
Keywords:
Bart’s syndrome, epidermolysis bullosa, dominant DEB, congenital localized absence of skin, genetic mechano-bullous disorders.Abstract
Bart’s syndrome is defined as congenital localized absence of skin (CLAS) associated with epidermolysis bullosa (EB). It may be associated with any type of EB but is mostly reported with dominant dystrophic epidermolysis bullosa (DEB dominant). Clinically it is characterized by raw beefy areas of denuded skin on trauma-prone areas of body e.g. hands and feet. Diagnosis is obvious clinically but requires ultrastructural microscopy for proper classification of the disease. Treatment suffices to palliative measures.We describe here a case of newborn baby who presented with rich-red areas of denuded skin on the hands and feet. Clinical appearance was sufficiently distinct to suggest the diagnosis of Bart’s syndrome. We repot this case because of its rarity.ÂReferences
Smith SZ, Cram DL. A mechanobullous disease of the newborn. Arch Dermatol 1978; 114: 81-4
Zelickson B, Matsumara K, Kist D et al. Bart's syndrome: Ultrastructure and genetic linkage. Arch Dermatol 1995; 131: 663-8.
Bart BJ, Gorlin RJ, Anderson VE, Lynch FW. Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa: a new syndrome. Arch Dermatol 1966; 93: 296-304.
Bart BJ. Epidermolysis bullosa and congenital localized absence of skin. Arch Dermatol 1970; 101: 78-81.
Joensen HD. Epidermolysis bullosa dystrophica dominans in two families in the Faroe Islands. Acta Derm Venereol 1973; 53: 53-60.
Skoven I, Drzewiecki KT. Congenital localized skin defect and epidermolysis bullosa hereditaria letalis. Acta Derm Venereol 1979; 59: 533-7.
Kanzler MH, Smoller B, Woodley DT. Congenital localized absence of the skin as a manifestation of epidermolysis bullosa. Arch Dermatol 1992; 128: 1087-90.
Christiano AM, Bart BJ, Epstein EH Jr, Uitto J. Genetic basis of Bart's syndrome: a glycine substitution mutation in type VII collagen gene. J Invest Dermatol 1996; 106: 778-80.