title: Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential.
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 (EB). Two unrelated infants with no family history of skin disease are described who, within hours of birth, developed extensive blistering of skin and oral mucosae and who both subsequently developed hoarse cries. Despite this superficial resemblance to other forms of EB, electron microscopy revealed a basal cell rupture and keratin aggregates characteristic of EBS-DM in the skin of both infants and in the vocal cord epithelium of one. Molecular analysis confirmed the diagnosis by identification of mis-sense point mutations in basal cell keratin genes in both cases. One patient carries a point mutation in keratin 14 (converting arginine at position 125 to histidine) and the other has a novel point 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 junctional 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 prognosis.
authors.affiliation: Department of Anatomy & Physiology, MSI/WTB Complex, University of Dundee, UK.
authors.forename: C S
authors.initials: CS
authors.lastname: Shemanko
authors.forename: H M
authors.initials: HM
authors.lastname: Horn
authors.forename: S G
authors.initials: SG
authors.lastname: Keohane
authors.forename: N
authors.initials: N
authors.lastname: Hepburn
authors.forename: A I
authors.initials: AI
authors.lastname: Kerr
authors.forename: D J
authors.initials: DJ
authors.lastname: Atherton
authors.forename: M J
authors.initials: MJ
authors.lastname: Tidman
authors.forename: E B
authors.initials: EB
authors.lastname: Lane
mesh_terms: D004252:DNA Mutational Analysis; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007633:Keratins / Q000235:genetics*; D007818:Laryngeal Diseases / Q000235:genetics* / Q000473:pathology; D008297:Male; D020125:Mutation, Missense; D017354:Point Mutation; D014827:Vocal Cords / Q000648:ultrastructure
chemical_list: D007633:Keratins