Alternative titles; symbols
SNOMEDCT: 403375001;
Cytogenetic location: 14q11.2-q13 Genomic coordinates (GRCh38): 14:18,200,001-37,400,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 14q11.2-q13 | Hyperhidrosis palmaris et plantaris | 144110 | Autosomal dominant | 2 |
Hyperhidrosis palmaris et plantaris (HYPRPP) is characterized by excessive perspiration of the eccrine sweat gland in the palm, sole, and axilla. Perspiration in those affected may be aggravated by emotional stimuli (summary by Higashimoto et al., 2006).
Stolman (1998) noted that hyperhidrosis may be complicated by skin maceration as well as secondary microbial infections, and that treatment modalities are associated with complications.
Nejsum et al. (2002) demonstrated that the presence of aquaporin-5 (AQP5; 600442) in plasma membranes of sweat glands is essential for secretion of sweat. Immunohistochemical labeling showed abundant AQP5 in secretory parts of rat and mouse sweat glands, and immunoelectron microscopy demonstrated abundant AQP5 labeling in the apical plasma membrane. AQP5 immunolabeling of human sweat glands yielded a similar pattern. Aqp5-deficient mice demonstrated a marked reduction in pilocarpine-induced sweat response. Nejsum et al. (2002) speculated that dysregulation of AQP5 may be involved in hyperhidrosis and that AQP5 inhibition may provide a therapeutic option in this clinical disorder.
German (1988) reported a Chinese family with hyperhidrosis of the palms and soles in at least 4 generations.
Higashimoto et al. (2006) stated that 40 to 65% of patients with primary palmar hyperhidrosis have a positive family history. They considered autosomal dominant inheritance with incomplete penetrance likely because patients of both sexes are affected and the condition is sometimes directly and vertically transmitted through 3 or more generations within a family.
German (1988) indicated that primary palmar hyperhidrosis may be unusually frequent in Chinese.
Cloward (1957) stated that primary palmar hyperhidrosis occurred over 20 times more frequently in Japanese than in other Asians or Caucasians in Hawaii.
Higashimoto et al. (2006) performed a genomewide linkage analysis in 11 families with palmar hyperhidrosis, including 42 affected and 40 unaffected members. Data from 3 of the families showed a combined maximum 2-point lod score of 3.08 and 3.16 (theta = 0.0) at markers D14S283 and D14S264, respectively, on chromosome 14q11.2-q13. These regions were ruled out in the 8 other families. Haplotype analysis of the 3 families narrowed the locus to a 6- to 30-cM interval between D14S1070 and D14S990 at minimum and D14S1070 and D14S70 at maximum.
Cloward, R. B. Treatment of hyperhidrosis palmaris (sweaty hands): a familial disease in Japanese. Hawaii Med. J. 16: 381-387, 1957. [PubMed: 13415495]
German, J. Personal Communication. New York, N. Y. 11/9/1988.
Higashimoto, I., Yoshiura, K., Hirakawa, N., Higashimoto, K., Soejima, H., Totoki, T., Mukai, T., Niikawa, N. Primary palmar hyperhidrosis locus maps to 14q11.2-q13. Am. J. Med. Genet. 140A: 567-572, 2006. [PubMed: 16470694] [Full Text: https://doi.org/10.1002/ajmg.a.31127]
Nejsum, L. N., Kwon, T.-H., Jensen, U. B., Fumagalli, O., Frokiaer, J., Krane, C. M., Menon, A. G., King, L. S., Agre, P. C., Nielsen, S. Functional requirement of aquaporin-5 in plasma membranes of sweat glands. Proc. Nat. Acad. Sci. 99: 511-516, 2002. [PubMed: 11773623] [Full Text: https://doi.org/10.1073/pnas.012588099]
Stolman, L. P. Treatment of hyperhidrosis. Derm. Clin. 16: 863-867, 1998. [PubMed: 9891696] [Full Text: https://doi.org/10.1016/s0733-8635(05)70062-0]