Abnormally diminished or absent perspiration. Both generalized and segmented (reduced or absent sweating in circumscribed locations) forms of the disease are usually associated with other underlying conditions.
A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.
Presence of less than the normal amount of hair. (Dorland, 27th ed)
A monosaccharide in sweet fruits and honey that is soluble in water, alcohol, or ether. It is used as a preservative and an intravenous infusion in parenteral feeding.
Drugs used to prevent SEIZURES or reduce their severity.
An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.
A vascular, horny neoplasm of the skin characterized by TELANGIECTASIS and secondary epithelial changes including acanthosis and hyperkeratosis.
An enzyme that catalyzes the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-galactosides including galactose oligosaccharides, galactomannans, and galactolipids.
A hexosaminidase with specificity for terminal non-reducing N-acetyl-D-galactosamine residues in N-acetyl-alpha-D-galactosaminides.
Glycosphingolipids which contain as their polar head group a trisaccharide (galactose-galactose-glucose) moiety bound in glycosidic linkage to the hydroxyl group of ceramide. Their accumulation in tissue, due to a defect in ceramide trihexosidase, is the cause of angiokeratoma corporis diffusum (FABRY DISEASE).
Therapeutic replacement or supplementation of defective or missing enzymes to alleviate the effects of enzyme deficiency (e.g., GLUCOSYLCERAMIDASE replacement for GAUCHER DISEASE).
A group of islands in the southwest Pacific. Its capital is Wellington. It was discovered by the Dutch explorer Abel Tasman in 1642 and circumnavigated by Cook in 1769. Colonized in 1840 by the New Zealand Company, it became a British crown colony in 1840 until 1907 when colonial status was terminated. New Zealand is a partly anglicized form of the original Dutch name Nieuw Zeeland, new sea land, possibly with reference to the Dutch province of Zeeland. (From Webster's New Geographical Dictionary, 1988, p842 & Room, Brewer's Dictionary of Names, 1992, p378)

Unsuccessful surgical treatment of hip dislocation in congenital sensory neuropathy with anhidrosis. A case report. (1/61)

A six-year-old girl with congenital sensory neuropathy with anhidrosis (CSNA) presented with bilateral hip dysplasia and subluxation on the right side. Conservative treatment of the hips by closed reduction and a plaster cast was unsuccessful. When aged seven years the patient had an intertrochanteric varus rotation osteotomy on the right side, but subluxation was again evident after five months. A Salter-type pelvic osteotomy was carried out followed by immobilisation, but one year later subluxation was present in the right hip and dislocation in the left. At the age of nine years, the right femoral head resembled a Charcot joint, although walking ability was preserved. In patients with CSNA, surgery may not always be advisable.  (+info)

A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis. (2/61)

A nerve growth factor receptor encoded by the TRKA gene plays an important part in the formation of autonomic neurons and small sensory neurons in dorsal root ganglia and in signal transduction through its intracytoplasmic tyrosine kinase domain. Recently, three mutations in the tyrosine kinase domain of TRKA have been reported in patients with congenital insensitivity to pain with anhidrosis, which is an autosomal recessive disorder characterized by recurrent fever due to absence of sweating, no reaction to noxious stimuli, self-mutilating behavior, and mental retardation. We examined the TRKA gene in five generations of a large Japanese family with many consanguineous marriages who live in a small remote island of the southern part of Japan. We found a novel point mutation at nucleotide 1825 (A-->G transition) resulting in Met-581-Val in the tyrosine kinase domain. Two of the three affected patients were homozygous for this mutation; however, the third affected patient was heterozygous. Further analysis revealed that the third patient was a compound heterozygote with the Met-581-Val mutation in one allele and with a single base C deletion mutation at nucleotide 1726 in exon 14 in the other allele, resulting in a frameshift and premature termination codon.  (+info)

Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor. (3/61)

Congenital insensitivity to pain with anhidrosis (CIPA) is characterized by recurrent episodes of unexplained fever, anhidrosis (inability to sweat), absence of reaction to noxious stimuli, self-mutilating behavior, and mental retardation. Human TRKA encodes a high-affinity tyrosine kinase receptor for nerve growth factor (NGF), a member of the neurotrophin family that induces neurite outgrowth and promotes survival of embryonic sensory and sympathetic neurons. We have recently demonstrated that TRKA is responsible for CIPA by identifying three mutations in a region encoding the intracellular tyrosine kinase domain of TRKA in one Ecuadorian and three Japanese families. We have developed a comprehensive strategy to screen for TRKA mutations, on the basis of the gene's structure and organization. Here we report 11 novel mutations, in seven affected families. These are six missense mutations, two frameshift mutations, one nonsense mutation, and two splice-site mutations. Mendelian inheritance of the mutations is confirmed in six families for which parent samples are available. Two mutations are linked, on the same chromosome, to Arg85Ser and to His598Tyr;Gly607Val, hence, they probably represent double and triple mutations. The mutations are distributed in an extracellular domain, involved in NGF binding, as well as the intracellular signal-transduction domain. These data suggest that TRKA defects cause CIPA in various ethnic groups.  (+info)

Focal (segmental) dyshidrosis in syringomyelia. (4/61)

The features or mechanisms of dyshidrosis have not been sufficiently clarified. Neither has the difference between hyperhidrosis and hypohidrosis. To clarify the features and mechanisms of dyshidrosis (hyperhidrosis and hypohidrosis) in syringomyelia, the clinical features focusing on hidrosis of 30 patients with syringomyelia and Chiari malformation located from a syringomyelia database were prospectively analysed. The patients were classified into three groups: eight patients (26.7%) had segmental hypohidrosis, 10 (33. 3%) had segmental hyperhidrosis, and 12 (40.0%) had normohidrosis. We found that the Karnofsky functional status for the hyperhydrosis and normohidrosis groups were significantly higher than for the hypohidrosis group (p=0.0012), with no significant differences between the hyperhidrosis and normohidrosis groups. The duration from the onset of syringomyelia to the current dyshidrosis was significantly longer in the hypohidrosis group than in the hyperhidrosis group (p=0.0027). A significant correlation was identified between the duration from the onset of syringomyelia to the time at study and the performance score (r=-0.599, p=0.0003). The results substantiate previous hypotheses that in its early stage syringomyelia causes segmental hyperactivity of the sympathetic preganglionic neurons, and hyperactivity of these gradually subsides as tissue damage progresses. Focal hyperhidrosis may be regarded as a hallmark of a relatively intact spinal cord, as well as normohidrosis.  (+info)

Congenital insensitivity to pain with anhidrosis: a case report. (5/61)

Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare genetic disorder of the peripheral nervous system characterized by recurrent episodes of unexplained fever, generalized anhidrosis, insensitivity to pain and temperature, and accompanied by self-mutilating behavior and mental retardation. We report on a 16 month-old boy with CIPA who exhibited these characteristic clinical features. A sural nerve biopsy revealed markedly reduced numbers of unmyelinated and small myelinated fibers, consistent with the characteristic features of CIPA.  (+info)

A case of traumatic high thoracic myelopathy presenting dissociated impairment of rostral sympathetic innervations and isolated segmental sweating on otherwise anhidrotic trunk. (6/61)

A 3 year-old boy developed flaccid paraplegia, anesthesia below T3 and impaired vesical control immediately after a car accident. Three months later, the pupils and their pharmacological reactions were normal. Thermal sweating was markedly reduced on the right side of the face, neck, and shoulder and on the bilateral upper limbs, and was absent below T3 except for band like faint sweating on T7 sensory dermatome. The left side of the face, neck and shoulder showed compensatory hyperhidrosis. Facial skin temperature was higher on the sweating left side. Cervico-thoracic MRI suggested almost complete transection of the cord at the levels of T2 and T3 segments. We discussed the pathophysiology of the dissociated impairment of rostral sympathetic innervations and isolated segmental sweating on otherwise anhidrotic trunk.  (+info)

Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor. (7/61)

Human TRKA (NTRK1) encodes the receptor tyrosine kinases (RTKs) for nerve growth factor (NGF) and is the gene responsible for congenital insensitivity to pain with anhidrosis (CIPA), an autosomal recessive disorder characterized by a lack of pain sensation and anhidrosis. We reported 11 putative missense mutations in 31 CIPA families from various ethnic groups. Here we have introduced the corresponding mutations into the TRKA cDNA and examined NGF-stimulated autophosphorylation. We find that wild-type TRKA precursor proteins in a neuronal and a non-neuronal cell line were differentially processed and phosphorylated in an NGF-dependent and -independent manner, respectively. Two mutants (L93P and L213P) in the extracellular domain were aberrantly processed and showed diminished autophosphorylation in neuronal cells. Five mutants (G516R, G571R, R643W, R648C and G708S) in the tyrosine kinase domain were processed as wild-type TRKA but showed significantly diminished autophosphorylation in both neuronal and non-neuronal cells. In contrast, R85S and (H598Y; G607V), detected previously as double and triple mutations, are probably polymorphisms in a particular ethnic background. The other putative mutant D668Y might be a rare polymorphism or might impair the function of TRKA without compromising autophosphorylation. Mutated residues in the tyrosine kinase domain are conserved in various RTKs and probably contribute to critical function of these proteins. Thus, naturally occurring TRKA missense mutations with loss of function provide considerable insight into the structure-function relationship in the RTK family. Our data may aid in developing a drug which targets the clinically devastating 'complex regional pain syndrome'.  (+info)

Novel pathogenic mechanisms of congenital insensitivity to pain with anhidrosis genetic disorder unveiled by functional analysis of neurotrophic tyrosine receptor kinase type 1/nerve growth factor receptor mutations. (8/61)

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare genetic disease characterized by absence of reaction to noxious stimuli and anhidrosis. The genetic bases of CIPA have remained long unknown. A few years ago, point mutations affecting both coding and noncoding regions of the neurotrophic tyrosine receptor kinase type 1 (NTRK1)/nerve growth factor receptor gene have been detected in CIPA patients, demonstrating the implication of the nerve growth factor/NTRK1 pathway in the pathogenesis of the disease. We have previously shown that two CIPA mutations, the G571R and the R774P, inactivate the NTRK1 receptor by interfering with the autophosphorylation process. We have extended our functional analysis to seven additional NTRK1 mutations associated with CIPA recently reported by others. Through a combination of biochemical and biological assays, we have identified polymorphisms and pathogenic mutations. In addition to the identification of residues important for NTRK1 activity, our analysis suggests the existence of two novel pathogenic mechanisms in CIPA: one based on the NTRK1 receptor processing and the other acting through the reduction of the receptor activity.  (+info)

Hypohidrosis is a medical condition characterized by reduced or absent sweating. It's the opposite of hyperhidrosis, which is excessive sweating. Sweating is an essential function that helps regulate body temperature through the evaporation of sweat on the skin surface. When this process is impaired due to hypohidrosis, it can lead to difficulties in maintaining a normal body temperature, especially during physical exertion or in hot environments.

Hypohidrosis may be localized, affecting only certain areas of the body, or generalized, affecting the entire body. The causes of hypohidrosis are varied and include genetic factors, nerve damage, skin disorders, dehydration, burns, or the use of certain medications. Depending on its underlying cause, hypohidrosis can be managed through appropriate treatments, such as addressing nerve damage, managing skin conditions, or adjusting medication usage.

Ectodermal dysplasia (ED) is a group of genetic disorders that affect the development and formation of ectodermal tissues, which include the skin, hair, nails, teeth, and sweat glands. The condition is usually present at birth or appears in early infancy.

The symptoms of ED can vary widely depending on the specific type and severity of the disorder. Common features may include:

* Sparse or absent hair
* Thin, wrinkled, or rough skin
* Abnormal or missing teeth
* Nail abnormalities
* Absent or reduced sweat glands, leading to heat intolerance and problems regulating body temperature
* Ear abnormalities, which can result in hearing loss
* Eye abnormalities

ED is caused by mutations in genes that are involved in the development of ectodermal tissues. Most cases of ED are inherited in an autosomal dominant or autosomal recessive pattern, meaning that a child can inherit the disorder even if only one parent (dominant) or both parents (recessive) carry the mutated gene.

There is no cure for ED, but treatment is focused on managing the symptoms and improving quality of life. This may include measures to maintain body temperature, such as cooling vests or frequent cool baths; dental treatments to replace missing teeth; hearing aids for hearing loss; and skin care regimens to prevent dryness and irritation.

Hypotrichosis is a medical term that refers to a condition characterized by an abnormal lack or sparseness of hair growth. This can apply to the eyebrows, eyelashes, or scalp hair. It's important to note that this is not a complete loss of hair, but rather a significant reduction in hair density. The onset and severity can vary greatly, and it can be inherited or acquired later in life due to various factors such as diseases, burns, or certain medications.

Fructose is a simple monosaccharide, also known as "fruit sugar." It is a naturally occurring carbohydrate that is found in fruits, vegetables, and honey. Fructose has the chemical formula C6H12O6 and is a hexose, or six-carbon sugar.

Fructose is absorbed directly into the bloodstream during digestion and is metabolized primarily in the liver. It is sweeter than other sugars such as glucose and sucrose (table sugar), which makes it a popular sweetener in many processed foods and beverages. However, consuming large amounts of fructose can have negative health effects, including increasing the risk of obesity, diabetes, and heart disease.

Anticonvulsants are a class of drugs used primarily to treat seizure disorders, also known as epilepsy. These medications work by reducing the abnormal electrical activity in the brain that leads to seizures. In addition to their use in treating epilepsy, anticonvulsants are sometimes also prescribed for other conditions, such as neuropathic pain, bipolar disorder, and migraine headaches.

Anticonvulsants can work in different ways to reduce seizure activity. Some medications, such as phenytoin and carbamazepine, work by blocking sodium channels in the brain, which helps to stabilize nerve cell membranes and prevent excessive electrical activity. Other medications, such as valproic acid and gabapentin, increase the levels of a neurotransmitter called gamma-aminobutyric acid (GABA) in the brain, which has a calming effect on nerve cells and helps to reduce seizure activity.

While anticonvulsants are generally effective at reducing seizure frequency and severity, they can also have side effects, such as dizziness, drowsiness, and gastrointestinal symptoms. In some cases, these side effects may be managed by adjusting the dosage or switching to a different medication. It is important for individuals taking anticonvulsants to work closely with their healthcare provider to monitor their response to the medication and make any necessary adjustments.

Fabry disease is a rare X-linked inherited lysosomal storage disorder caused by mutations in the GLA gene, which encodes the enzyme alpha-galactosidase A. This enzyme deficiency leads to the accumulation of glycosphingolipids, particularly globotriaosylceramide (Gb3 or GL-3), in various tissues and organs throughout the body. The accumulation of these lipids results in progressive damage to multiple organ systems, including the heart, kidneys, nerves, and skin.

The symptoms of Fabry disease can vary widely among affected individuals, but common manifestations include:

1. Pain: Acroparesthesias (burning or tingling sensations) in the hands and feet, episodic pain crises, chronic pain, and neuropathy.
2. Skin: Angiokeratomas (small, red, rough bumps on the skin), hypohidrosis (decreased sweating), and anhydrosis (absent sweating).
3. Gastrointestinal: Abdominal pain, diarrhea, constipation, nausea, and vomiting.
4. Cardiovascular: Left ventricular hypertrophy (enlargement of the heart muscle), cardiomyopathy, ischemic heart disease, arrhythmias, and valvular abnormalities.
5. Renal: Proteinuria (protein in the urine), hematuria (blood in the urine), chronic kidney disease, and end-stage renal disease.
6. Nervous system: Hearing loss, tinnitus, vertigo, stroke, and cognitive decline.
7. Ocular: Corneal opacities, cataracts, and retinal vessel abnormalities.
8. Pulmonary: Chronic cough, bronchial hyperresponsiveness, and restrictive lung disease.
9. Reproductive system: Erectile dysfunction in males and menstrual irregularities in females.

Fabry disease affects both males and females, but the severity of symptoms is generally more pronounced in males due to the X-linked inheritance pattern. Early diagnosis and treatment with enzyme replacement therapy (ERT) or chaperone therapy can help manage the progression of the disease and improve quality of life.

Angiokeratoma is a cutaneous condition characterized by the presence of small, dilated blood vessels (capillaries) in the upper dermis, which are covered by thickened epidermis. These lesions appear as dark red to black papules or plaques on the skin surface. They can occur spontaneously or as a result of an underlying medical condition such as Fabry disease. Angiokeratomas are typically asymptomatic but may occasionally cause mild discomfort or itching. They most commonly affect the lower extremities, particularly the buttocks and genital region, but can also appear on other parts of the body.

Alpha-galactosidase is an enzyme that breaks down complex carbohydrates, specifically those containing alpha-galactose molecules. This enzyme is found in humans, animals, and microorganisms. In humans, a deficiency of this enzyme can lead to a genetic disorder known as Fabry disease, which is characterized by the accumulation of these complex carbohydrates in various tissues and organs, leading to progressive damage. Alpha-galactosidase is also used as a medication for the treatment of Fabry disease, where it is administered intravenously to help break down the accumulated carbohydrates and alleviate symptoms.

Alpha-N-Acetylgalactosaminidase (also known as alpha-GalNAcase) is an enzyme that belongs to the class of glycoside hydrolases. Its systematic name is N-acetyl-alpha-galactosaminide galactosaminohydrolase. This enzyme is responsible for catalyzing the hydrolysis of the terminal, non-reducing N-acetyl-D-galactosamine residues in gangliosides and glycoproteins.

Gangliosides are sialic acid-containing glycosphingolipids found in animal tissues, especially in the nervous system. Glycoproteins are proteins that contain oligosaccharide chains (glycans) covalently attached to their polypeptide backbone.

Deficiency or dysfunction of alpha-N-Acetylgalactosaminidase can lead to various genetic disorders, such as Schindler and Kanzaki diseases, which are characterized by the accumulation of gangliosides and glycoproteins in lysosomes, leading to progressive neurological deterioration.

Trihexosylceramides are a type of glycosphingolipids, which are complex lipids found in animal tissues. They consist of a ceramide molecule (a sphingosine and fatty acid) with three hexose sugars attached to it in a specific sequence, typically glucose-galactose-galactose.

Trihexosylceramides are further classified into two types based on the type of ceramide they contain: lactosylceramide (Gal-Glc-Cer) and isoglobotrihexosylceramide (GalNAcβ1-4Galβ1-4Glc-Cer).

These lipids are important components of the cell membrane and play a role in various biological processes, including cell recognition, signal transduction, and cell adhesion. Abnormal accumulation of trihexosylceramides has been implicated in certain diseases, such as Gaucher disease and Tay-Sachs disease, which are caused by deficiencies in enzymes involved in their breakdown.

Enzyme Replacement Therapy (ERT) is a medical treatment approach in which functional copies of a missing or deficient enzyme are introduced into the body to compensate for the lack of enzymatic activity caused by a genetic disorder. This therapy is primarily used to manage lysosomal storage diseases, such as Gaucher disease, Fabry disease, Pompe disease, and Mucopolysaccharidoses (MPS), among others.

In ERT, the required enzyme is produced recombinantly in a laboratory using biotechnological methods. The purified enzyme is then administered to the patient intravenously at regular intervals. Once inside the body, the exogenous enzyme is taken up by cells, particularly those affected by the disorder, and helps restore normal cellular functions by participating in essential metabolic pathways.

ERT aims to alleviate disease symptoms, slow down disease progression, improve quality of life, and increase survival rates for patients with lysosomal storage disorders. However, it does not cure the underlying genetic defect responsible for the enzyme deficiency.

I'm sorry for any confusion, but "New Zealand" is not a medical term or concept. It is a country located in the southwestern Pacific Ocean, known for its stunning landscapes, unique wildlife, and as the filming location for the "Lord of the Rings" films. If you have any questions related to medicine or health, I'd be happy to try and help answer those for you!

... the consequences of untreated hypohidrosis include hyperthermia, heat stroke and death. An extreme case of hypohidrosis in ... The treatment options for hypohidrosis and anhidrosis are limited. Those with hypohidrosis should avoid drugs that can ... Hypohidrosis is a disorder in which a person exhibits diminished sweating in response to appropriate stimuli. In contrast with ... Failure of the topical indicator to undergo a colour change during thermoregulatory sweat testing indicates hypohidrosis, and ...
Hypohidrosis can result in a higher risk for suffering from heat-related illness, such as heat stroke. This condition is caused ... "What Is Hypohidrosis?". WebMD. Retrieved 2022-08-17. "Entry - *606268 - WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 10A ... and variable degrees of both hypotrichosis and either hyperhidrosis or hypohidrosis. The oligodontia associated with this ...
Chia, K. Y.; Tey, H. L. (2012). "Approach to hypohidrosis". Journal of the European Academy of Dermatology and Venereology. 27 ... The Minor test can be used as a diagnostic tool to evaluate underactive (hypohidrosis) and overactive (hyperhidrosis) sweating ...
The wheals, hypohidrosis, and pain seems to result from the low expression levels of acetylcholinesterase (AchE) and ... Chia, K. Y.; Tey, H. L. (2012). "Approach to hypohidrosis". Journal of the European Academy of Dermatology and Venereology. 27 ... This non-pharmacological treatment is contraindicated in those with CU as a result of hypohidrosis (see below). Antihistamines ... Sweat hypersensitivity Acquired anhidrosis and/or hypohidrosis Idiopathic Opioid use Cholinesterase inhibitors This subtype of ...
Hypohidrosis Nakazato, Y.; Tamura, N.; Ohkuma, A.; Yoshimaru, K.; Shimazu, K. (2004). "Idiopathic pure sudomotor failure: ...
Hypohidrosis Chen, Y. C.; Wu, C. S.; Chen, G. S.; Khor, G. T.; Chen, C. H.; Huang, P. (2008). "Identification of Subgroups of ...
Hypohidrosis is decreased sweating from whatever cause. Focal hyperhidrosis is increased or excessive sweating in certain ...
Postmiliarial hypohidrosis List of cutaneous conditions Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). ...
"Drug-induced hyperhidrosis and hypohidrosis: incidence, prevention and management". Drug Safety. 31 (2): 109-26. doi:10.2165/ ...
Hypohidrosis is irreversible and remains a problem for life. XLPDR patients have normal fertility and the mutation has been ... The most common manifestations of XLPDR: Recurrent respiratory infections Dyskeratosis corneal Photophobia Hypohidrosis (lack ...
Hypohidrosis List of cutaneous conditions Bolognia JL, Jorizzo JL, Rapini RP, eds. (2007). Dermatology: 2-Volume Set (2nd ed ...
Hypohidrotic ectodermal dysplasia, presenting with hypohidrosis, hypotrichosis, hypodontia Kabuki syndrome (the KDM6A variant ...
Physical findings typically include follicular atrophoderma, multiple basal cell carcinomas, hypotrichosis, and hypohidrosis. ...
... hypohidrosis, and/or episodic spells of hyperventilation interspersed with breath-holding; symptoms of spinal cord ...
Symptoms present in early childhood and can include sparse hair, abnormal dentition and hypohidrosis, heat intolerance, asthma ... ANOTHER syndrome consists of alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides ...
There may be fewer than normal sweat glands and they may produce little sweat, a condition known generally as hypohidrosis. ...
... hypohidrosis, and alopecia. Exposure from work Accidental ingestion Contaminated foods or drugs Exposure to hazardous waste ...
... as well as hypohidrosis or hyperhidrosis. DPR is very similar to the related Naegeli-Franceschetti-Jadassohn syndrome (NFJS). ...
The most relevant abnormality of HED is hypohidrosis, the inability to produce sufficient amounts of sweat, which is attributed ...
... hypotrichosis and hypohidrosis) with acanthosis nigricans. Other clinical features may include palmoplantar hyperkeratosis, ...
... hypohidrosis, broad nasal bridge, midfacial hypoplasia, exfoliative dermatitis, and xerosis. The lack of facial clefting and ...
Most people with hypohidrotic ectodermal dysplasia have a reduced ability to sweat (hypohidrosis) because they have fewer sweat ...
People with this disorder often have congenital adermatoglyphia, facial milia and blisters soon after birth, hypohidrosis (less ...
... hypohidrosis), decreased vision (corneal opacity), gastrointestinal problems, hearing loss, tinnitus, etc.. Complications may ...
... hypohidrosis/ anhidrosis, blurry vision, or Increase in intraocular pressure, increase in the risk of glaucoma. Anticholinergic ...
... hypohidrosis) Anonychia Apparent leukonychia Beau's lines Blue nails Bromidrosis (apocrine bromhidrosis, fetid sweat, ... Postmiliarial hypohidrosis Postoperative hematoma Pressure ulcer (decubitus ulcer) Pseudoacanthosis nigricans Pseudoverrucous ... adenoma Adrenal carcinoma Adrenal hyperplasia Alopecia-nail dystrophy-ophthalmic complications-thyroid dysfunction-hypohidrosis ...
... and hypohidrosis/anhidrosis which typically results in the body's impaired ability to regulate body temperature. Although these ...
... hypohidrosis GIT: gastroparesis, constipation, urinary retention Sexual dysfunction: failure of erection and ejaculation in ...
... hypohidrosis, muscular dystrophy, minor physical anomalies (such as camptodactyly), and skeletal muscle atrophy,. This disorder ...
... hypohidrosis MeSH C17.800.946.492 - miliaria MeSH C17.800.946.492.285 - Fox-Fordyce disease MeSH C17.800.946.743 - sweat gland ...
... the consequences of untreated hypohidrosis include hyperthermia, heat stroke and death. An extreme case of hypohidrosis in ... The treatment options for hypohidrosis and anhidrosis are limited. Those with hypohidrosis should avoid drugs that can ... Hypohidrosis is a disorder in which a person exhibits diminished sweating in response to appropriate stimuli. In contrast with ... Failure of the topical indicator to undergo a colour change during thermoregulatory sweat testing indicates hypohidrosis, and ...
Learn about the causes, symptoms, and treatments of hypohidrosis. ... Hypohidrosis is a condition in which you arent able to sweat ... Hypohidrosis can be difficult to diagnose. This means that mild hypohidrosis often goes unnoticed. ... Hypohidrosis that affects only a small part of your body usually wont cause problems and may not require treatment. If an ... Mild hypohidrosis may go unnoticed unless you engage in vigorous exercise and become overheated because youre not sweating or ...
Hypohidrosis - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the Merck Manuals - Medical Professional ... 1 Reference Hypohidrosis is inadequate sweating. Hypohidrosis due to skin abnormalities is rarely clinically significant. It is ... Hypohidrosis due to skin abnormalities is rarely clinically significant. It is most commonly focal and caused by local skin ... Hypohidrosis is a feature of some genetic conditions (eg, hypohidrotic and anhidrotic ectodermal dysplasia). A mutation of a ...
Acquired hypohidrosis following a drug reaction. Gareth Lim, Hui Yi Chia, Hong Liang Tey, Yen Loo Lim, Yee Kiat Heng ...
Hypohidrosis. Definition: Abnormally diminished or absent perspiration. Both generalized and segmented (reduced or absent ...
Hypohidrosis - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD Manuals - Medical Professional ... 1 Reference Hypohidrosis is inadequate sweating. Hypohidrosis due to skin abnormalities is rarely clinically significant. It is ... Hypohidrosis due to skin abnormalities is rarely clinically significant. It is most commonly focal and caused by local skin ... Hypohidrosis is a feature of some genetic conditions (eg, hypohidrotic and anhidrotic ectodermal dysplasia). A mutation of a ...
Alopecia, hypohidrosis, and ulcerations in a man. / Hoefer, Heidi F.; Chen, San Hwan; Duvic, Madeleine A. et al. In: Archives ... Alopecia, hypohidrosis, and ulcerations in a man. In: Archives of Dermatology. 2002 ; Vol. 138, No. 4. pp. 527-532. ... Hoefer, H. F., Chen, S. H., Duvic, M. A., & Raimer, S. S. (2002). Alopecia, hypohidrosis, and ulcerations in a man. Archives of ... title = "Alopecia, hypohidrosis, and ulcerations in a man",. author = "Hoefer, {Heidi F.} and Chen, {San Hwan} and Duvic, { ...
Pupillotonia, hyporeflexia, and segmental hypohidrosis: Autonomic dysfunction in a child. Nancy B. Esterly, Salvatore J. ... Dive into the research topics of Pupillotonia, hyporeflexia, and segmental hypohidrosis: Autonomic dysfunction in a child. ...
Hypohidrosis. Hypohidrosis is a common feature of Fabry disease that leads to dry skin and heat intolerance [15]. It is likely ... Heat intolerance and hypohidrosis (reduced sweating). *Episodes of acroparesthesia (neuropathic pain in the hands and feet) ( ...
... hypohidrosis; xerotic and scaly skin with ichthyosiform appearance on lower limbs; areas of hypoesthesia and hyperesthesia ...
Hyperpigmentation and hypohidrosis. (The Naegeli-Franceschetti-Jadassohn syndrome): report of a family and review of the ... The patient was a 27-year-old man with hypohidrosis and heat intolerance; photophobia; reticulate and mottled pigmentation of ... Compared with reticulate hyperpigmentation, which fades, hypohidrosis and palmoplantar keratoderma usually persist in Naegeli- ...
... hypohidrosis); cloudiness or streaks in the front part of the eye (corneal opacity or corneal verticillata); problems with the ...
Holmes-Adie syndrome with segmental hypohidrosis. Lucy DD Jr, Van Allen MW, Thompson HS. Lucy DD Jr, et al. Neurology. 1967 Aug ...
Hyperpigmented Flexural Plaques, Hypohidrosis, and Hypotrichosis November 29, 2023. India A. Loyd, MD, MPH, et al ...
Hypohidrosis: an early clue in the diagnosis of Fabry disease. Clin Exp Dermatol. 2015 Jun;40(4):444-5. [PubMed: 25546261] ... Parkinson disease (PD) patients can experience both hypohidrosis and hyperhidrosis, with the latter being more prevalent. The ... Carbonic anhydrase inhibitors, such as acetazolamide and topiramate, can cause transient hypohidrosis and lead to heat ... hypohidrosis) or a complete lack of sweating (anhidrosis) can lead to severe overheating, as the body is unable to sweat and ...
Hypohidrosis. *Increased blood pressure. *Increased liver enzymes. *Increased post-void residual urine volume ...
Sports Related Cold Weather Injuries; Recognizing, Preventing and Treating ... Hyperhidrosis, hypohidrosis or anhidrosis. ... Sports Related Cold Weather Injuries; Recognizing, Preventing and Treating ... Hyperhidrosis, hypohidrosis or anhidrosis. ...
Some have hyperhidrosis during the on period, often with dyskinesia.19 Hypohidrosis may occur more frequently in the lower body ...
However, hypohidrosis is not reported with this entity, and dental abnormalities are only rarely observed. [3] ... Hyperpigmentation and hypohidrosis. (The Naegeli-Franceschetti-Jadassohn syndrome): report of a family and review of the ... While abnormal keratin filament structure and function can explain hypohidrosis and epithelial differentiation abnormalities, ... hypohidrosis, and dental abnormalities. In contrast, incontinentia pigmenti is inherited as an X-linked dominant trait. ...
Many horses are considered to have hypohidrosis, or the reduced ability to sweat. Practitioners can perform a simple test to ...
DWD 81.10(1)(a)2.c. c. Edema or sweating abnormalities, which include swelling, hyperhidrosis, and hypohidrosis. ...
3] Eccrine glands produce sweat, and an alteration in the rate of sweat secretion manifests as hypohidrosis or hyperhidrosis. [ ...
hypohidrosis and sebaceous atrophy. *follicular hyperkeratosis (non specific)(=phrynoderma) of limbs, nape of neck, shoulders, ...
Hypohidrosis is the medical term for the inhibited ability to sweat. Not sweating or sweating less can be dangerous and may ...
Some psychiatric meds can affect the way you sweat, causing hyperhidrosis (excess sweating) or hypohidrosis (deficient sweating ...
This condition is known as Hypohidrosis (not hyper) or anhidrosis. If sweat glands are no longer producing sweat, you could be ...
3, hypohidrosis or lossless: scarcely perspire, only the head slightly perspiration when onset sometimes. ... lossless or hypohidrosis; Summer-heat is felt frustrated, though again and again thirsty drink, and the bladder that becomes ... lossless or hypohidrosis, frequent micturition and long clearly, spirit is irritated, xerocheilia, red tongue, yellow and thin ...
hypohidrosis 1. Dimminished or lacking "normal" sweating.. 2. Also called: hidroschesis, hyphidrosis, olighidria, oligidria, ...
The main clinical symptoms characteristic of HED include reduced ability to sweat (hypohidrosis), the lack of several or more ...
  • An extreme case of hypohidrosis in which there is a complete absence of sweating and the skin is dry is termed anhidrosis. (wikipedia.org)
  • citation needed] The treatment options for hypohidrosis and anhidrosis are limited. (wikipedia.org)
  • This condition is known as hypohidrosis, or anhidrosis. (healthline.com)
  • Hypohidrosis, sometimes called anhidrosis, is when your body has trouble cooling down by sweating. (thefitnessfaq.com)
  • Patients present impaired development of skin appendices, resulting in sparse hair, conical teeth, and anhidrosis/hypohidrosis. (lu.se)
  • We report on a male newborn with the main clinical characteristics of the X-linked HED including hypotrichosis, hypodontia and hypohidrosis. (biomedcentral.com)
  • Hypohidrotic ectodermal dysplasia (HED) is a hereditary syndrome, characterized by a classic triad of hypotrichosis, hypodontia and hypohidrosis. (bvsalud.org)
  • Failure of the topical indicator to undergo a colour change during thermoregulatory sweat testing indicates hypohidrosis, and further tests may be required to localize the lesion. (wikipedia.org)
  • Many horses are considered to have hypohidrosis, or the reduced ability to sweat. (aaep.org)
  • [ 3 ] Eccrine glands produce sweat, and an alteration in the rate of sweat secretion manifests as hypohidrosis or hyperhidrosis. (medscape.com)
  • Some psychiatric meds can affect the way you sweat , causing hyperhidrosis (excess sweating) or hypohidrosis (deficient sweating). (bustle.com)
  • Holmes - Adie syndrome with segmental hypohidrosis. (nih.gov)
  • Diagnosis of hypohidrosis is by clinical observation of decreased sweating or by heat intolerance. (merckmanuals.com)
  • Male patients demonstrated significantly higher pain scores, poorer renal function, and higher frequency of hypohidrosis and corpora angiokeratomas than female patients. (ntnu.edu.tw)
  • In contrast with hyperhidrosis, which is a socially troubling yet often benign condition, the consequences of untreated hypohidrosis include hyperthermia, heat stroke and death. (wikipedia.org)
  • While abnormal keratin filament structure and function can explain hypohidrosis and epithelial differentiation abnormalities, the absence of dermatoglyphics is not well understood. (medscape.com)
  • Hypohidrosis is a disorder in which a person exhibits diminished sweating in response to appropriate stimuli. (wikipedia.org)
  • Mild hypohidrosis may go unnoticed unless you engage in vigorous exercise and become overheated because you're not sweating or are sweating very little. (healthline.com)
  • Hypohidrosis is inadequate sweating. (merckmanuals.com)
  • This means that mild hypohidrosis often goes unnoticed. (healthline.com)
  • The patient, a white 35 years old man, had been healthy until the age of 31 years, except for mild articular pain and hypohidrosis since childhood. (biomedcentral.com)
  • In autoimmune diseases, such as Sjögren syndrome and systemic sclerosis, treatment of the underlying disease using immunosuppressive drugs may lead to improvement in hypohidrosis. (wikipedia.org)
  • Compared with reticulate hyperpigmentation, which fades, hypohidrosis and palmoplantar keratoderma usually persist in Naegeli-Franceschetti-Jadassohn (NFJ) syndrome. (medscape.com)
  • Franceschetti and Jadassohn distinguished Naegeli syndrome from incontinentia pigmenti (Bloch-Sulzberger syndrome) by the equal frequency of the disorder in males and females and by the presence of palmar and plantar hyperkeratosis, hypohidrosis, and dental abnormalities. (medscape.com)
  • Hypohidrosis due to skin abnormalities is rarely clinically significant. (merckmanuals.com)
  • Hypohidrosis that affects only a small part of your body usually won't cause problems and may not require treatment. (healthline.com)
  • Treatment of hypohidrosis is by cooling measures (eg, air-conditioning, wet garments). (merckmanuals.com)
  • Hypohidrosis is a feature of some genetic conditions (eg, hypohidrotic and anhidrotic ectodermal dysplasia). (merckmanuals.com)
  • Those with hypohidrosis should avoid drugs that can aggravate the condition (see "Medications", under § Causes). (wikipedia.org)
  • Hypohidrosis may be caused by drugs, especially those with anticholinergic properties. (merckmanuals.com)
  • If an underlying medical condition is causing hypohidrosis, your doctor will treat that condition. (healthline.com)
  • It may not be possible to prevent hypohidrosis, but you can take steps to avoid serious illnesses related to overheating. (healthline.com)
  • If it's left untreated, hypohidrosis can cause your body to overheat. (healthline.com)
  • In autoimmune diseases, such as Sjögren syndrome and systemic sclerosis, treatment of the underlying disease using immunosuppressive drugs may lead to improvement in hypohidrosis. (wikipedia.org)
  • Treatment options include surgical interventions (e.g. surgical en bloc excision, liposuction or endoscopic thoracic sympathectomy) and non-surgical modalities, such as topical drugs, botulinum toxin injection, systemic drugs, iontophoresis and energy-based treatments (3). (medicaljournals.se)
  • Hypohidrosis is associated with systemic anticholinergic drugs (4), which led to their use as topical agents for hyperhidrosis. (medicaljournals.se)
  • Hypohidrosis due to skin abnormalities is rarely clinically significant. (msdmanuals.com)
  • Franceschetti and Jadassohn distinguished Naegeli syndrome from incontinentia pigmenti (Bloch-Sulzberger syndrome) by the equal frequency of the disorder in males and females and by the presence of palmar and plantar hyperkeratosis, hypohidrosis, and dental abnormalities. (medscape.com)
  • However, hypohidrosis is not reported with this entity, and dental abnormalities are only rarely observed. (medscape.com)
  • While abnormal keratin filament structure and function can explain hypohidrosis and epithelial differentiation abnormalities, the absence of dermatoglyphics is not well understood. (medscape.com)
  • In contrast with hyperhidrosis, which is a socially troubling yet often benign condition, the consequences of untreated hypohidrosis include hyperthermia, heat stroke and death. (wikipedia.org)
  • Hypohidrosis and hyperthermia are 2 rare adverse effects of topiramate treatment, which have mainly occurred in pediatric epilepsy patients. (elsevierpure.com)
  • Diagnosis of hypohidrosis is by clinical observation of decreased sweating or by heat intolerance. (msdmanuals.com)
  • Hypohidrosis may be caused by drugs, especially those with anticholinergic properties. (msdmanuals.com)
  • Hypohidrosis is a disorder in which a person exhibits diminished sweating in response to appropriate stimuli. (wikipedia.org)
  • Herein, we describe the first case of reversible hypohidrosis in an adult patient treated with topiramate for chronic migraine. (elsevierpure.com)
  • Status of whether the subject had hypohidrosis after spinal cord lesion within the last three months. (nih.gov)