Primary palmar hyperhidrosis locus maps to 14q11.2‐q13

Abstract

Primary palmar hyperhidrosis (PPH) is a unique disorder of unknown cause. It is characterized by excessive perspiration of the eccrine sweat gland in the palm, sole, and the axilla. It is presumed that PPH results from overactivation of the cholinergic sympathetic nerve or dysfunction of the autonomic nervous system. There have been no genetic studies on the disease. We performed a linkage analysis of 11 families including 42 affected and 40 unaffected members using genome-wide DNA polymorphic markers to identify the disease locus. Diagnosis of their PPH was made by direct inspection, interviewing and measurement of the sweating rate with perspirometer. Consequently, from data of three of the 11 families examined, the combined maximum two-point LOD scores of 3.08 and 3.16 (recombination fraction = 0) were obtained at the D14S283 and D14S264 loci, respectively, on chromosome 14q11.2-q13, under an assumption that two liability conditions depend on age. These regions were ruled out in eight other families. Haplotype analysis of the three families supported that one of the PPH locus is assigned at minimum to about a 6-cM interval between D14S1070 and D14S990 and at maximum to about a 30-cM interval between D14S1070 and D14S70. This is the first report of systemic mapping of the PPH locus.

Tratamento da hiperidrose palmar com onabotulinumtoxinA veiculada por iontoforese ou fonoforese: relato de casos

“…The condition affects both males and females, principally individuals of Japanese descent. [1][2][3] There are idiopathic primary forms and those that occur secondary to hyperthyroidism, menopause, obesity, panic syndrome, alcoholism, neoplastic conditions or medication. The condition may affect the skin of the entire body or be limited to the palmoplantar region, axillae, inframammary, inguinal, intergluteal or craniofacial regions.…”

Hyperhidrose im Kindes- und Jugendalter

“…Man vermutet ein autosomal-dominantes Vererbungsmuster mit Lokalisation des verantwortlichen Gens auf Chromosom 14. Aufgrund nur unvollständiger Penetranz kommt es nicht in allen Fällen zur Manifestation [12,21]. Die primäre Hyperhidrose tritt am häufigsten in umschriebenen Körperarealen auf, v. a. im Bereich der Axillen, aber auch an Händen, Füßen, im Gesicht und Nacken, seltener sind mehrere Areale oder der gesamte Körper betroffen [25,31].…”

Up-to-date Treatments of Primary Hyperhidrosis with Focus on Sympathectomy and Sympathicotomy; A Narrative Review

“…In 57% of cases, there is a positive family history [3]. Some articles have reported that PH is an autosomal dominant disorder with variable penetration in chromosomes 5 or 14 or both; in some cases congenital factors are involved [4,5].…”