Dermatology

Original Paper

Primary Focal Hyperhidrosis in a New Family Not Linked to Known Loci

Del Sorbo F.a · Brancati F.d · De Joanna G.e · Valente E.M.d · Lauria G.b · Albanese A.a, c

Author affiliations

aNeurologia I and bUnità Malattie Neuromuscolari, IRCCS Istituto Neurologico Carlo Besta, and cIstituto di Neurologia, Università Cattolica del Sacro Cuore, Milano, dIRCCS Casa Sollievo della Sofferenza, Laboratorio CSS-Mendel, San Giovanni Rotondo, and eDipartimento di Neurologia, Azienda Ospedaliera Cardarelli, Napoli, Italy

Keywords: Primary focal hyperhidrosisGeneticsLinkage analysisAutonomic nervous systemCardiovascular reflex testSkin biopsy

Related Articles for ""
Dermatology 2011;223:335–342
https://doi.org/10.1159/000334936

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: August 02, 2011
Accepted: November 04, 2011
Published online: January 12, 2012
Issue release date: March 2012

Number of Print Pages: 8
Number of Figures: 2
Number of Tables: 2

ISSN: 1018-8665 (Print)
eISSN: 1421-9832 (Online)

For additional information: https://www.karger.com/DRM

Abstract

Background: Primary focal hyperhidrosis (PFH) is a disabling disorder. A first locus has been mapped in families with only palmar involvement, raising the question whether other unknown genes are responsible for more diffuse phenotypes. Objective: We investigated a PFH family with a new phenotype, providing evidence that PFH is a clinically and genetically heterogeneous condition. Methods: Family members were examined by autonomic tests, skin biopsy and genetic analysis, and followed up for 4 years. Results: Age at onset was early, involving the axillae, palms and soles. Affected members had dysautonomic features also at onset. Cardiovascular dysautonomia was present in affected and unaffected members. Skin biopsy revealed impairment of intraepidermal nerve fibers and reduced innervation of sweat glands. There was no linkage to PFH and aquaporin-5 loci. Conclusion: This pedigree may serve as a basis for identifying a novel unmapped gene. Skin biopsy and cardiovascular autonomic tests provide important additions to the characterization of PFH.

© 2012 S. Karger AG, Basel



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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: August 02, 2011
Accepted: November 04, 2011
Published online: January 12, 2012
Issue release date: March 2012

Number of Print Pages: 8
Number of Figures: 2
Number of Tables: 2

ISSN: 1018-8665 (Print)
eISSN: 1421-9832 (Online)

For additional information: https://www.karger.com/DRM

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2011, Vol.223, No. 4

March 2012

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