DermKnowledgeBASE: Bart pumphrey Syndrome

Bart pumphrey Syndrome

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The text is the summary of recent articles on Bart pumphrey Syndrome at 75 thresold from National Library of Medicine (NLM). This information is subject to NCBI's Disclaimer and Copyright notice.


In the classification of leukonychias, the real, usually hereditary leukonychia can be distinguished from the Acquired form [1]. Here, we investigate the underlying mechanisms of four Autosomal Dominant Cx30 gene Mutations that are linked to hearing loss and/or various skin diseases [2]. First, the T5M mutant linked to non-syndromic Hearing Loss formed functional gap junction channels and hemichannels, similar to wild-type Cx30 [3]. To the best of our knowledge, Idiopathic familial knuckle pads have not previously been described in the English language literature [4]. The large array of disease mutants offers unique opportunities to gain insights into the underlying function of gap junction proteins and their channels in the normal and pathogenic physiologies of the cochlea and epidermis [5].

Hearing loss and knuckle pads are the more commonly seen findings of this syndrome [6]. Three generations and six family members with variable findings of knuckle pads, leukonychia, Hearing Loss and palmoplantar hyperkeratosis were presented in this report [7]. Nevertheless, the widespread immunostaining of Cx30 throughout the spinous cell layers suggested a compensatory overexpression [8].

References: 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 ,

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