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

Citation
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
Citations number
45
Categorie Soggetti
Dermatology,"da verificare
Journal title
BRITISH JOURNAL OF DERMATOLOGY
ISSN journal
00070963 → ACNP
Volume
142
Issue
2
Year of publication
2000
Pages
315 - 320
Database
ISI
SICI code
0007-0963(200002)142:2<315:LIITDV>2.0.ZU;2-T
Abstract
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.