Progressive symmetrical erythrokeratoderma: report of a Turkish family and evaluation for loricrin and connexin gene mutations.
We report here the first Turkish patient with progressive symmetric erythrokeratoderma. The patient's skin lesions appeared in the axillae at 3 months of age, and gradually spread to other flexural areas and to the trunk. Dermatological examination of the boy at 3.5 years of age revealed symmetric, hyperkeratotic plaques with erythematous outlines on the neck, wrists, armpits, trunk and posterior knees. The histopathological changes were nonspecific, including marked hyperkeratosis, irregular acanthosis, focal papillomatosis and perivascular lymphocytic infiltrates. Molecular studies of the loricrin (LOR), connexin 31 (GJB3) and connexin 30.3 (GJB4) genes did not identify a disease-causing mutation. These results further underline the genetic heterogeneity of the erythrokeratodermas.
Akman
A
A
Department of Dermatology and Venerology, Akdeniz University School of Medicine, Antalya, Turkey. aakman@akdeniz.edu.tr
Masse
M
M
Mihci
E
E
Richard
G
G
Christiano
A M
AM
Balle
B J
BJ
Ciftcioglu
M A
MA
Alpsoy
E
E
D002675:Child, Preschool; D017630:Connexins / Q000235:genetics; D003241:Consanguinity; D003937:Diagnosis, Differential; D004890:Erythema / Q000235:genetics* / Q000473:pathology; D018740:Genetic Heterogeneity; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000235:genetics* / Q000473:pathology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D010375:Pedigree
D017630:Connexins; D008565:Membrane Proteins; C064554:loricrin