Primary focal hyperhidrosis in a new family not linked to known loci

Francesca Del Sorbo, Francesco Brancati, Gabriella De Joanna, Enza Maria Valente, Giuseppe Lauria, Alberto Albanese

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)335-342
Number of pages8
Issue number4
Publication statusPublished - Mar 2012


  • Autonomic nervous system
  • Cardiovascular reflex test
  • Genetics
  • Linkage analysis
  • Primary focal hyperhidrosis
  • Skin biopsy

ASJC Scopus subject areas

  • Dermatology


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