Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype
, Fabienne Charbit-Henrion 3,4, Stéphanie Leclerc-Mercier 5, Thao Nguyen-Khoa 6,7,8, Robert Baran 9, Caroline Alby 4, Julie Steffann 3,4, Isabelle Sermet-Gaudelus 7,8 and Smail Hadj-Rabia 1,2,3,*
Mozheh Zamiri
Round 1
Reviewer 1 Report
This is a nicely written case report of a now well documented condition, with a novel mutation.
Author Response
Dear Reviewer
Thank you very much
Reviewer 2 Report
This paper enlights the phenotype of Bothnian palmo plantar keratoderma taken by a French family with four patients affected. It shows clinical characteristics, microbiological study of skin and some hystopathologic features. The manuscript compares the PPKB with other acquired or hereditary aquagenic PPKs. It describes Aquaporin 5 too, both wild type and mutated.
English is fluent. The authors illustrate clearly their work and their clinical and laboratory investigations.
In the abstract, lines 32-35, the sentences is not so clear, it should be rephrased.
In line 33, there is twice IN, and acronym ESG should be anticipated by its meaning: "eccrine sweat glands".
Author Response
Dear Reviewer
Thanks to you and the editors for your suggestions and comments. Below, a point to point answer is provided.
The manuscript was reviewed by Kiri Couchman a native Australian PhD.
Best
Smail Hadj-Rabia
Answers to reviewers
In the abstract, lines 32-35, the sentences is not so clear, it should be rephrased.
In the abstract, the sentence was rephrased as follow: AQP5 protein is expressed in eccrine sweat glands (ESG), salivary and airway submucosal glands.
In line 33, there is twice IN, and acronym ESG should be anticipated by its meaning: "eccrine sweat glands".
One “In” was removed and ESG acronym was explained.
