Cs. Shemanko et al., Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential, BR J DERM, 142(2), 2000, pp. 315-320
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.