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      A FAMILY WITH LEUKONYCHIA TOTALIS

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          Abstract

          A family presented to our dermatology clinic with a complaint of white nails. Physical examination revealed clinical feature of leukonychia totalis and the presence of sensorineural hearing loss, palmo plantar keratoderma and knuckle pads (four essential criteria for the diagnosis of Bart Pumphrey syndrome).Three consecutive generations of this family were affected with variable presentations of Bart Pumphrey syndrome in male and female; and autosomal dominant pattern of inheritance.

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          Most cited references 11

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          Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.

          Bart-Pumphrey syndrome (BPS) is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, which show considerable phenotypic variability. The clinical features partially overlap with Vohwinkel syndrome and Keratitis-Ichthyosis-Deafness syndrome, both disorders caused by dominant mutations in the GJB2 gene encoding the gap junction protein connexin-26, suggesting an etiological relationship. We report here a novel GJB2 mutation N54K segregating in a family with BPS, which was not detected in 110 control individuals of Northern European ancestry. This non-conservative missense mutation lies within a cluster of pathogenic GJB2 mutations affecting the evolutionary conserved first extracellular loop of Cx26 important for docking of connexin hemichannels and voltage gating. Immunostaining of Cx26 in lesional palmar and knuckle skin was weak or absent, although its adnexal expression appeared normal and the punctate membrane staining of Cx26 and other epidermal connexins was not altered. Nevertheless, the widespread immunostaining of Cx30 throughout the spinous cell layers suggested a compensatory overexpression. Our results emphasize that pleiotropic GJB2 mutations are responsible for at least 5 overlapping dermatological disorders associated with syndromic hearing loss and cover a wide range of severity and organ involvement.
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            Knuckle pads, leukonychia and deafness. A dominantly inherited syndrome.

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              Congenital leukonychia.

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                Author and article information

                Journal
                Indian J Dermatol
                IJD
                Indian Journal of Dermatology
                Medknow Publications (India )
                0019-5154
                1998-3611
                Jan-Mar 2010
                : 55
                : 1
                : 102-104
                Affiliations
                From the Departement of Dermatology, Razi hospital, Tehran University of Medical Sciences, Tehran, Iran.
                Author notes
                Address for correspondence: Dr. Fatemeh Moeineddin, Department of Dermatology, Razi hospital, Vahdat eslami square, Tehran, Iran - 119 960. E-mail: fmoeineddin@ 123456razi.tums.ac.ir
                Article
                IJD-55-102
                10.4103/0019-5154.60365
                2856358
                20418990
                © Indian Journal of Dermatology

                This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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