Focal palmoplantar keratoderma caused by an autosomal dominant inherited mutation in the desmoglein 1 gene.
BACKGROUND
Palmoplantar keratodermas (PPK) encompass a large genetically heterogeneous group of diseases associated with hyperkeratosis of the soles and/or palms that occur either isolated or in association with other cutaneous and extracutaneous manifestations. Pathogenic mutations in the desmoglein 1 gene (DSG1) have recently been identified in a subset of patients with the striate type of PPK.


METHODS
We have identified a patient with a focal non-striated form of PPK associated with discrete troubles of keratinisation at sites exposed to mechanical trauma, such as the knees, ankles or finger knuckles, and with mild nail dystrophy. Genetic analyses disclosed a novel dominantly inherited heterozygous single base insertion in exon 3 of DSG1, 121insT, leading to a premature termination codon. The mutation was also present in the father and in a sister.


CONCLUSIONS
Our observation extends the spectrum of clinical features associated with genetic defects in DSG1 and provides further evidence that perturbation of desmoglein 1 expression has a critical impact on the integrity of tissues experiencing strong mechanical stress.
Milingou
M
M
Clinic of Dermatology, University Medical Hospital, Rue Micheli-du-Crest 24, CH-1211 Geneva, Switzerland.
Wood
P
P
Masouyé
I
I
McLean
W H
WH
Borradori
L
L
D000328:Adult; D001706:Biopsy; D002648:Child; D004247:DNA / Q000235:genetics*; D051183:Desmoglein 1 / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction
D051183:Desmoglein 1; D004247:DNA