Disease relevance of Hypohidrosis

• Congenital insensitivity to pain with anhidrosis (CIPA; MIM 256800) is an autosomal-recessive disorder characterized by recurrent episodes of unexplained fever, anhidrosis (absence of sweating) and absence of reaction to noxious stimuli, self-mutilating behaviour and mental retardation [1].
• BACKGROUND: Ross syndrome is an uncommon disorder characterized by the triad of segmental anhidrosis, hyporeflexia, and tonic pupils [2].
• EDA (ectodermal dysplasia, anhidrotic) is an X-linked recessive disorder characterized by hypohidrosis, hypoor anodontia, and hypotrichosis [3].
• Heterochromia iridium, anhidrosis, and enophthalmos were not present [4].
• Hypohidrotic ectodermal dysplasia (EDA), or Christ-Siemens-Touraine syndrome, is clinically characterized by hypohidrosis, hypoodontia and hypotrichosis [5].

High impact information on Hypohidrosis

• Mice lacking the gene for TrkA, a receptor tyrosine kinase for NGF, share dramatic phenotypic features of CIPA, including loss of responses to painful stimuli, although anhidrosis is not apparent in these animals [1].
• Tabby (Ta), a murine X-linked mutant gene, produces a syndrome of ectodermal dysplasia including anhidrosis (absence of sweat glands) [6].
• Decreased CSF levels of substance P in patients with congenital sensory neuropathy with anhidrosis [7].
• In the present study, I examined whether anhidrosis, a cardinal feature of CST, is present in the putative mouse sex-linked model, Tabby [8].
• Intradermal acetylcholine produced localized sweating in areas of thermoregulatory anhidrosis five months after the onset of symptoms but failed to do so at two years [9].

Chemical compound and disease context of Hypohidrosis

• Both showed pupillary supersensitivity to epinephrine as well as anhidrosis on the affected side of the face and neck [10].
• Patients with congenital Horner's syndrome (who seemed, on the basis of their clinical history and the distribution fo anhidrosis, to have a preganglionic lesion) had partial mydriatic failure with hydroxyamphetamine hydrobromide and a supersensitivity to phenylephrine hydrochloride [11].
• Effects that seemed unique to zonisamide were impairment of mental function, motivation or volition, and hypohidrosis [12].
• Of these, three had hypohidrosis and five had frequent urination; five patients had subnormal plasma norepinephrine (NE) concentrations [13].
• Application of pilocarpine showed anhidrosis and nerve biopsy revealed a significant decrease in the number of myelinated and unmyelinated nerve fibres [14].

Biological context of Hypohidrosis

• The slowly progressive, symmetrical HSAN type I manifests between the second and fourth decade with ulcers or mutilations of the lower extremities, low normal sensory and motor nerve conduction velocities, but abnormal warm, cold and heat pain perception and distal anhidrosis [15].
• Mutations of the NGF high-affinity receptor tyrosine kinase A (Trk A) have been found in congenital insensitivity to pain and anhidrosis; these are likely to be partial loss-of-function mutations, as axon-reflex vasodilatation and sweating can be elicited albeit reduced, suggesting rhNGF could restore nociception in some patients [16].
• We report a patient who demonstrated the classical triad of elevated body temperature, neurological disturbances, and anhidrosis [17].

Anatomical context of Hypohidrosis

• Outcome measures include neurological manifestations (acroparaesthesia, hypohidrosis, vasomotion), kidney function, cardiac manifestations, angiokeratomas, and corneal dystrophy. alpha-Galactosidase A prepared from human fibroblast is safe and well tolerated [18].

Gene context of Hypohidrosis

• HSAN IV is characterized by absence of reaction to noxious stimuli, recurrent episodes of fever, anhidrosis, self-mutilating behavior and often mental retardation [19].
• METHODS: We describe three patients with epilepsy who were treated with TPM and developed hypohidrosis, heat and exercise intolerance, as well as fever [20].
• Hypohidrosis in the affected areas, heat intolerance, and febrile convulsions were noted in infancy and childhood [21].
• We report on a 13-year-old girl with complete Kearns-Sayre syndrome (KSS) and unusual manifestations of anhidrosis and de Toni-Fanconi-Debré syndrome which preceded by several years the onset of KSS triad [22].
• Although patients with GH deficiency and HS are characterized by anhidrosis/hypohidrosis, there does not appear to be dysfunction of GH response to heat stress-associated HS [23].

References