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Journal of Oral and Maxillofacial... Feb 2023Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder which involves a complex group of inherited conditions. This condition is characterised by the failed...
Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder which involves a complex group of inherited conditions. This condition is characterised by the failed development of two or more ectodermal derived anatomic structure; for example, the skin, hair, nails, teeth, and sweat glands. It is a phenotypically heterogenous group of illnesses including anodontia with conical teeth, generalised spacing, reduced ability to sweat, very less hair growth, etc. The pattern of inheritance of HED varies from person to person depending on the type of ectodermal dysplasia (ED). The patterns include X-linked recessive, X-linked dominant, autosomal dominant, autosomal recessive, and spontaneous mutation. There is one such common type of ED more in female than male. It is an X-linked HED (XLHED), characterised by hypohidrosis, sparse hair, and teeth abnormalities. The other type can affect both male and female equally and may be inherited in different ways. The present case is a 21-year-old male who presented with hair, teeth, and sweat gland abnormalities.
PubMed: 37082285
DOI: 10.4103/jomfp.jomfp_72_21 -
Archives of Plastic Surgery Jan 2016
PubMed: 26848454
DOI: 10.5999/aps.2016.43.1.95 -
International Journal of Molecular... Feb 2023Sweat plays a critical role in human body, including thermoregulation and the maintenance of the skin environment and health. Hyperhidrosis and anhidrosis are caused by...
Sweat plays a critical role in human body, including thermoregulation and the maintenance of the skin environment and health. Hyperhidrosis and anhidrosis are caused by abnormalities in sweat secretion, resulting in severe skin conditions (pruritus and erythema). Bioactive peptide and pituitary adenylate cyclase-activating polypeptide (PACAP) was isolated and identified to activate adenylate cyclase in pituitary cells. Recently, it was reported that PACAP increases sweat secretion via PAC1R in mice and promotes the translocation of AQP5 to the cell membrane through increasing intracellular [Ca] via PAC1R in NCL-SG3 cells. However, intracellular signaling mechanisms by PACAP are poorly clarified. Here, we used PAC1R knockout (KO) mice and wild-type (WT) mice to observe changes in AQP5 localization and gene expression in sweat glands by PACAP treatment. Immunohistochemistry revealed that PACAP promoted the translocation of AQP5 to the lumen side in the eccrine gland via PAC1R. Furthermore, PACAP up-regulated the expression of genes (, , ) involved in sweat secretion in WT mice. Moreover, PACAP treatment was found to down-regulate the gene expression in PAC1R KO mice. These genes were found to be involved in multiple pathways related to sweating. Our data provide a solid basis for future research initiatives in order to develop new therapies to treat sweating disorders.
Topics: Mice; Humans; Animals; Pituitary Adenylate Cyclase-Activating Polypeptide; Sweat; Sweating; Receptors, Pituitary Adenylate Cyclase-Activating Polypeptide, Type I; Pituitary Gland
PubMed: 36902003
DOI: 10.3390/ijms24054572 -
Annals of the Academy of Medicine,... Jan 2021
Topics: Drug-Related Side Effects and Adverse Reactions; Humans; Hypohidrosis; Pharmaceutical Preparations; Urticaria
PubMed: 33623968
DOI: 10.47102/annals-acadmedsg.2020182 -
Movement Disorders : Official Journal... Mar 2017The objective of this study was to characterize the degree, pattern, lesion site, and temporal evolution of sudomotor dysfunction in multiple system atrophy (MSA) and to...
BACKGROUND
The objective of this study was to characterize the degree, pattern, lesion site, and temporal evolution of sudomotor dysfunction in multiple system atrophy (MSA) and to evaluate differences by parkinsonian (MSA-parkinsonism) and cerebellar (MSA-cerebellar) subtypes.
METHODS
All cases of MSA evaluated at Mayo Clinic Rochester between 2005 and 2010 with postganglionic sudomotor testing and thermoregulatory sweat test were reviewed. Pattern and lesion site (preganglionic, postganglionic, or mixed) were determined based on thermoregulatory sweat test and postganglionic sudomotor testing.
RESULTS
The majority of the 232 patients were MSA-parkinsonism (145, 63%). Initial postganglionic sudomotor testing was abnormal in 59%, whereas thermoregulatory sweat test was abnormal in 95% of all patients. MSA-parkinsonism patients were more likely to have an abnormal thermoregulatory sweat test compared with MSA-cerebellar (98% versus 90%, P = 0.006) and had a higher mean percentage of anhidrosis (57%) compared with MSA-cerebellar (48%; P = 0.033). Common anhidrosis patterns were regional (38%) and global (35%). The site of the lesion was preganglionic in 47% and mixed (preganglionic and postganglionic) in 41%. The increase in anhidrosis per year was 6.2% based on 70 repeat thermoregulatory sweat tests performed on 29 patients. The frequency of postganglionic sudomotor abnormalities increased over time.
CONCLUSIONS
Our findings suggest: (1) sudomotor dysfunction is almost invariably present in MSA and even more common and severe in MSA-parkinsonism than MSA-cerebellar; (2) a preganglionic pattern of sweat loss is common in MSA; however, pre- and postganglionic abnormalities may coexist; and (3) the increasing frequency of postganglionic sudomotor dysfunction over time suggests involvement of postganglionic fibers or sweat glands later in the disease course. © 2016 International Parkinson and Movement Disorder Society.
Topics: Aged; Autonomic Nervous System Diseases; Cerebellar Diseases; Female; Humans; Hypohidrosis; Male; Middle Aged; Multiple System Atrophy; Parkinsonian Disorders
PubMed: 27859565
DOI: 10.1002/mds.26864 -
Medicine Apr 2019Ganglioneuromas are benign neoplasm of neuroblastic origin which arise from central or peripheral parts of the autonomic nervous system. They are normally found at... (Review)
Review
RATIONALE
Ganglioneuromas are benign neoplasm of neuroblastic origin which arise from central or peripheral parts of the autonomic nervous system. They are normally found at posterior mediastinum, retroperitoneum, and the adrenal gland but ganglioneuromas are rarely found in the cervical region.
PATIENT CONCERNS
A 12-year-old boy was admitted with a left-lateral neck mass slow growing over a 7-days duration. The tumor was painless and was not associated with any systemic or compression-related symptoms. No symptoms of Horner's syndrome, including ptosis, myosis, ipsilateral facial anhidrosis, and flushing, were observed. Laboratory routine tests were within normal limits, and magnetic resonance imaging demonstrated a solid and well-circumscribed mass in the carotid space.
DIAGNOSIS
Due to the patient's symptoms, laboratory test results together with radiographic investigation findings, the 12 years old boy was diagnosed with cervical ganglioneuroma combined with tetralogy of Fallot.
INTERVENTIONS
Surgical excision.
OUTCOMES
The postoperative period was uneventful with the exception of Horner's syndrome on the left side in short period, and it was finally resolved after 8 months recovery. The patient is now in stable condition after operation, with improvement in symptoms during follow-up recovery.
LESSONS
Ganglioneuromas should be accounted as the differential diagnosis of pediatric soft tissue tumors of the head and neck. The diagnosis for ganglioneuromas in cervical region can only be ascertained with postoperative pathologic examination, and excision is considered as the only effective treatment modality known so far which may cause Horner's syndrome at times. However, patients have a favorable prognosis without recurrence overall.
Topics: Cervical Vertebrae; Child; Diagnosis, Differential; Ganglioneuroma; Head and Neck Neoplasms; Humans; Male
PubMed: 30985715
DOI: 10.1097/MD.0000000000015203 -
Scientific Reports Oct 2022Cholinergic urticaria (CholU) is classified into several subtypes: (1) conventional sweat allergy-type CholU (conventional SAT-CholU), (2) CholU with palpebral...
Cholinergic urticaria (CholU) is classified into several subtypes: (1) conventional sweat allergy-type CholU (conventional SAT-CholU), (2) CholU with palpebral angioedema (CholU-PA), 3) CholU with acquired anhidrosis and/or hypohidrosis (CholU-Anhd); 1) and 2) include SAT based on pathogenesis. There have been no studies on differences in the prevalence of bronchial asthma among the subtypes. We analyzed bronchial responsiveness using the methacholine dose indicator D, respiratory symptoms, and exhaled nitric oxide (FeNO). Median log10 D (interquartile range) of patients with conventional SAT-CholU (n = 11), CholU-PA (n = 11), and CholU-Anhd (n = 11) was 0.381 (- 0.829, 1.079), 0.717 (0.249, 0.787), and 1.318 (0.121, 1.699), respectively (p = 0.516). Respiratory symptoms were less frequently observed in CholU-Anhd than in conventional SAT-CholU or CholU-PA. FeNO of patients with conventional SAT-CholU, CholU-PA, and CholU-Anhd was 23 (18.5, 65.0), 39 (32.0, 59.5), and 25 (19.0, 33.0) ppb, respectively (p = 0.237). Nine% of conventional SAT-CholU patients and more than half of CholU-PA patients required treatment for asthma. Log D tended to be lower in patients with SAT-CholU than in those with CholU-Anhd. CholU-PA might be associated with asthma.
Topics: Humans; Cross-Sectional Studies; Bronchial Hyperreactivity; Methacholine Chloride; Urticaria; Asthma; Nitric Oxide; Cholinergic Agents
PubMed: 36302805
DOI: 10.1038/s41598-022-22655-6 -
Indian Journal of Dermatology 2015Acquired idiopathic generalized anhidrosis is a rare condition, where the exact pathomechanism is unknown. We report a case of acquired idiopathic generalized anhidrosis...
Acquired idiopathic generalized anhidrosis is a rare condition, where the exact pathomechanism is unknown. We report a case of acquired idiopathic generalized anhidrosis in a patient who later developed lichen planus. Here an autoimmune-mediated destruction of sweat glands may be the probable pathomechanism.
PubMed: 26288446
DOI: 10.4103/0019-5154.160533 -
European Journal of Medical Research Feb 2023Drug repurposing refers to the application of existing drugs to new therapeutic indications. As phenotypic indicators of human drug response, drug side effects may... (Observational Study)
Observational Study
BACKGROUND
Drug repurposing refers to the application of existing drugs to new therapeutic indications. As phenotypic indicators of human drug response, drug side effects may provide direct signals and unique opportunities for drug repurposing.
OBJECTIVES
We aimed to identify drugs frequently associated with hypohidrosis or anhidrosis adverse reactions (that is, the opposite condition of hyperhidrosis) from the pharmacovigilance database, which could be potential candidates as anti-hyperhidrosis treatment agents.
METHODS
In this observational, retrospective, pharmacovigilance study, adverse event reports of hypohidrosis or anhidrosis in the US Food and Drug Administration (FDA) Adverse Event Reporting System (FAERS) were assessed between January 2004 and December 2021 using reporting odds ratio (ROR) estimates and categorized by the World Health Organization Anatomical Therapeutic Chemical (ATC) classification code. The onset time of drug-associated hypohidrosis or anhidrosis was also examined.
RESULTS
There were 540 reports of 192 drugs with suspected drug-associated hypohidrosis or anhidrosis in the FAERS database, of which 39 drugs were found to have statistically significant signals. Nervous system drugs were most frequently reported (187 cases, 55.82%), followed by alimentary tract and metabolism drugs (35 cases, 10.45%), genitourinary system and sex hormones (28 cases, 8.36%), and dermatologicals (22 cases, 6.57%). The top 3 drug subclasses were antiepileptics, drugs for urinary frequency and incontinence, and antidepressants. Taking disproportionality signals, pharmacological characteristics of drugs and appropriate onset time into consideration, the main putative drugs for hyperhidrosis were glycopyrronium, solifenacin, oxybutynin, and botulinum toxin type A. Other drugs, such as topiramate, zonisamide, agalsidase beta, finasteride, metformin, lamotrigine, citalopram, ciprofloxacin, bupropion, duloxetine, aripiprazole, prednisolone, and risperidone need more investigation.
CONCLUSIONS
Several candidate agents among hypohidrosis or anhidrosis-related drugs were identified that may be redirected for diminishing sweat production. There are affirmative data for some candidate drugs, and the remaining proposed candidate drugs without already known sweat reduction mechanisms of action should be further explored.
Topics: Humans; United States; Hypohidrosis; Pharmaceutical Preparations; Pharmacovigilance; Drug Repositioning; Retrospective Studies; Hyperhidrosis; Databases, Factual
PubMed: 36829251
DOI: 10.1186/s40001-023-01048-z -
Allergology International : Official... Jul 2022Tingling dermal pain triggered by sweating impairs the lives of patients with cholinergic urticaria and generalized anhidrosis. However, dermal pain evoked by sweating...
BACKGROUND
Tingling dermal pain triggered by sweating impairs the lives of patients with cholinergic urticaria and generalized anhidrosis. However, dermal pain evoked by sweating stimuli has been under investigated.
METHODS
To clarify characteristics of tingling dermal pain on sweating, we retrospectively evaluated clinical and histopathological manifestations in 30 patients having the main problem of dermal pain on sweating, and the efficacy of treatments.
RESULTS
Dermal pain upon sweating affected mostly young males. It accompanied eruptions upon sweating and/or hypohidrosis in 24 patients, while 6 patients had dermal pain independently of hypohidrosis or eruptions. Dermal pain appeared immediately upon exposure to sweating stimuli, and disappeared within mostly 30 or 10 min. Hypohidrosis was not necessarily generalized but localized or absent. Histological analysis revealed that dermal pain could occur even without morphological changes and inflammation of sweat glands. Hypersensitivity to sweat contents was found only in 26% of patients. Sweat histamine and increase of plasma histamine after thermal induction in patients were significantly higher than those in healthy subjects. Effectiveness of steroid pulse therapy was demonstrated for dermal pain with hypohidrosis. Medications acting on nervous systems and regular sweat-inducing activities for promoting perspiration were also effective.
CONCLUSIONS
Short-lasting tingling dermal pain appears immediately upon exposure to sweating stimuli, regardless of developing eruptions and/or presence of hypohidrosis, but possibly in association with sweat and plasma histamine.
Topics: Histamine; Humans; Hypohidrosis; Male; Pain; Retrospective Studies; Sweating; Urticaria
PubMed: 35272957
DOI: 10.1016/j.alit.2022.01.003