Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential

The clinical features of the Dowling-Meara variant of epidermolysis bullosa simplex (EBS-DM) can, in an infant, be indistinguishable from other severe forms of epidermolysis bullosa (EBS), Two unrelated infants with no family history of skin disease are described who, within hours of birth, develope d extensive blistering of skin and oral mucosae and who both subsequently d eveloped hoarse cries. Despite this superficial resemblance to other forms of EB, electron microscopy revealed a basal cell rupture and keratin aggreg ates characteristic of EBS-DM in the skin of both infants and in the vocal cord epithelium of one. Molecular analysis confirmed the diagnosis by ident ification of mis-sense point mutations in basal cell Keratin genes in both cases, One patient carries a point mutation in keratin 14 (converting argin ine at position 125 to histidine) and the other has a novel paint mutation in keratin 5 (converting serine at position 181 to proline), Hoarseness is not a well documented feature of EBS-DM and is usually associated with junc tional EB, These two patients demonstrate that the presence of a hoarse cry in an infant affected by severe EB does not necessarily indicate a poor pr ognosis.