Evaluation of the correlation between severity of acquired idiopathic generalized anhidrosis and quality of life scores.

Symptoms of acquired idiopathic generalized anhidrosis (AIGA) include heat retention and/or heat stroke due to the effects of the disorder on the perspiration ability of the whole body under thermal environmental changes or exercise. Additionally, cholinergic urticaria can also occur in these patients. AIGA has a major impact on everyday life. However, the effects of AIGA severity on the quality of life (QOL) of the patients have not been sufficiently defined. The objective of this study was to evaluate the correlation between AIGA severity and QOL. Study subjects comprised 44 patients diagnosed with AIGA at three registered institutions. AIGA severity assessment was conducted and the Dermatology Life Quality Index (DLQI) questionnaire was administered. Correlations between AIGA severity and DLQI, as well as severity by DLQI subscale, were assessed. We found a positive correlation between total score of AIGA severity criteria and DLQI total scores (R = 0.720, P = 0.001). The impairment increased with the increase in AIGA severity (P < 0.01). In relation to the DLQI subscales, leisure (social and sporting activities) impairment was significantly higher for patients with severe AIGA than those with mild AIGA (P < 0.01). Comparing QOL for AIGA patients with that of patients with other dermatological disorders, it is possible that QOL impairment for AIGA patients is as severe as that for patients with atopic dermatitis. AIGA severity and DLQI are correlated and AIGA patients experience disruption of everyday life more broadly than conventionally perceived.

Revised guideline for the diagnosis and treatment of acquired idiopathic generalized anhidrosis in Japan.

Acquired idiopathic generalized anhidrosis (AIGA) is characterized by an acquired impairment in total body sweating despite exposure to heat or exercise. Severe cases may result in heatstroke. Most cases of AIGA have been reported in Asia, especially in Japan. However, there is limited information on the epidemiology of this condition, and no diagnostic criteria or appropriate treatment options have been established. This guideline was developed to fill this gap. It contains information on the etiology, diagnosis, evaluation of disease severity and evidence-based recommendations for the treatment of AIGA. Appropriate treatment according to disease severity may relieve the clinical manifestations and emotional distress experienced by patients with AIGA.

Hypohidrosis in Individuals with Exertional Heat Injury: A Prospective Open Cohort Study.

BACKGROUND: Hypohidrosis is a risk factor for developing heat-related illnesses. OBJECTIVE: To determine the prevalence of hypohidrosis in heat injury. METHODS: Soldiers from the Singapore Armed Forces who developed heat injury between January 1, 2012 and December 31, 2013 were invited to participate in the study. Subjects were induced to sweat through exercising in a temperature- and humidity-regulated room, and then atomized starch-iodine powder was administered over their whole body to detect hypohidrosis. If this was found to be present, investigations to elucidate the cause of anhidrosis were performed. RESULTS: Out of 65 males, 30 consented to participation. One was excluded because an exogenous cause resulted in heat injury. Nine (31%) demonstrated hypohidrosis. Of these, 1 (11%) had miliaria profunda, 2 (22%) had acquired idiopathic generalized anhidrosis and 6 (67%) manifested a new phenotype which we termed acquired symmetrical hypohidrosis (ASH). CONCLUSION: Thirty-one percent of healthy soldiers who developed heat injury had hypohidrosis. Concurrently, a new clinical phenotype of ASH was identified.

Factors associated with the development and remission of allergic diseases in an epidemiological survey of high school students in Japan.

BACKGROUND: Allergic diseases are an important health problem for children and adults. It is important to know how allergic diseases develop and remit from infancy to adolescence. Early intervention is effective in treating allergic diseases. OBJECTIVE: We performed a large-scale questionnaire survey of high school students in Fukui Prefecture, Japan, and analyzed the factors associated with the development and remission of allergic diseases. METHODS: A total of 21,802 students participated in the epidemiologic survey, and the valid response rate was 89.3% (19,461). We applied an inverse probability weighting method with propensity scores. RESULTS: The present prevalence rate of allergic rhinitis (AR) was 19.2%. The remission rate of AR was 15.3%. Only children and firstborns had a significantly higher risk of developing symptoms of allergic diseases [only child: AR, 1.37; bronchial asthma (BA), 1.30; food allergy (FA), 1.33 and firstborn: AR, 1.38; BA, 1.10]. Constipation was an associated factor for development of atopic dermatitis (AD) (1.17) and AR (1.17), regular intake of lactic acid bacteria was not an associated factor for development of allergic diseases but was a factor for remission of AD (1.22). Hypohidrosis was an associated factor for development of AD (1.25). High academic performance was an associated factor for development of AR (1.20) but was a negative factor for development of BA (0.89). The values in parentheses are significant adjusted odds ratios. CONCLUSION: This epidemiologic survey showed that the hygiene hypothesis and intestinal bacterial flora might influence the development of symptoms and remission of allergic diseases.

Acquired idiopathic anhidrosis: a diagnosis often missed.

BACKGROUND: Acquired idiopathic anhidrosis (AIA) is an uncommon entity characterized by anhidrosis in the absence of any neurologic or sweat gland abnormalities. OBJECTIVE: The aim of this study was to characterize the clinical profile in a cohort of patients diagnosed with AIA at a tertiary dermatologic center. METHODS: We retrospectively evaluated cases seen during a 10-year period. Inclusion criteria included all cases of generalized or partial anhidrosis with no obvious causes, confirmed by provocative starch-iodine sweat test. Ectodermal dysplasias, poral dysfunction from chronic dermatoses, autonomic dysfunction, and drug-induced causes were excluded. RESULTS: Fifteen Chinese patients were diagnosed with AIA, mostly healthy young men with no significant medical or drug history, with variable extent of body surface area involvement. Serum immunoglobulin E, a complete blood cell count, thyroid function test, and antinuclear antibody levels were unremarkable. Anhidrotic areas revealed normal eccrine appendages with mild perivascular and perieccrine lymphocytic infiltrate. There were no neurologic abnormalities. LIMITATIONS: This was a retrospective study. CONCLUSION: Our study shows that AIA seems to be a heterogeneous group with no major dysfunction other than anhidrosis. Proper recognition and evaluation is paramount, especially for at-risk populations, so that appropriate measures on the prevention of heat injuries can be instituted.

Ear nose throat manifestations in hypoidrotic ectodermal dysplasia.

The ectodermal dysplasias (EDs) are a large and complex group of inherited disorders. In various combinations, they all share anomalies in ectodermal derived structures: hair, teeth, nails and sweat gland function. Clinical overlap is present among EDs. Few causative genes have been identified, to date. Altered gene expression is not limited to the ectoderm but a concomitant effect on developing mesenchymal structures, with modification of ectodermal-mesenchymal signaling, takes place. The two major categories of ED include the hidrotic and hypohidrotic form, the latter more frequent; they differentiate each other for the presence or absence of sweat glands. We report Ear Nose Throat manifestations of ED, linked to the reduction of mucous glands in the nasal fossae with reduced ciliar function, and decrease salivary glands function. Often patients report an increased rate of infections of the upper respiratory tract and of the ear. Nasal obstruction due to the presence of nasal crusting, hearing loss and throat hoarseness are the most represented symptoms. Environmental measures, including a correct air temperature and humidification, is mandatory above all in subjects affected by hypohidrotic form.

A novel method of diagnosing autonomic dysfunction in carpal tunnel syndrome: measuring skin capacitance.

Carpal Tunnel Syndrome (CTS) is normally diagnosed via its sensory and motor manifestations. The associated autonomic dysfunction has not been exploited to its full potential as a diagnostic tool due to the difficulties in quantifying it. We aim to demonstrate that autonomic dysfunction of CTS can be quantified by measuring skin capacitance. Fifty-one patients with clinical signs and electrophysiological evidence of CTS in 89 hands were recruited. Skin capacitance was measured using Corneometer CM825 (C&K Electronic, GmbH) from the palmar aspect of the distal phalanx of the index and little finger of the affected hand. Healthy gender- and age-matched individuals were recruited as controls. The mean ratio of hydration of the index to the little finger was 0.82. The mean difference was 10.98 arbitrary units. The control group consisted of 151 subjects (80 Male & 71 Female) and 302 hands with an average age of 40.1 years (18-81 years). The mean ratio of hydration of the index to the little finger was 0.87. The mean difference was 8.67 arbitrary units. The measurement ratios (index to little finger skin hydration) between the two groups was compared directly and gave a significant mean difference of 0.05 arbitrary units. Statistically significant differences in skin capacitance between CTS patients and controls have been demonstrated and quantified using a rapid and simple method. This can be used in clinic to reduce the reliance on Nerve Conduction Studies for diagnosing CTS.

Autopsy confirmed multiple system atrophy cases: Mayo experience and role of autonomic function tests.

BACKGROUND: Multiple system atrophy (MSA) is a sporadic progressive neurodegenerative disorder characterised by autonomic failure, manifested as orthostatic hypotension or urogenital dysfunction, with combinations of parkinsonism that is poorly responsive to levodopa, cerebellar ataxia and corticospinal dysfunction. Published autopsy confirmed cases have provided reasonable neurological characterisation but have lacked adequate autonomic function testing. OBJECTIVES: To retrospectively evaluate if the autonomic characterisation of MSA is accurate in autopsy confirmed MSA and if consensus criteria are validated by autopsy confirmation. METHODS: 29 autopsy confirmed cases of MSA evaluated at the Mayo Clinic who had undergone formalised autonomic testing, including adrenergic, sudomotor and cardiovagal functions and Thermoregulatory Sweat Test (TST), from which the Composite Autonomic Severity Score (CASS) was derived, were included in the study. PATIENT CHARACTERISTICS: 17 men, 12 women; age of onset 57±8.1 years; disease duration to death 6.5±3.3 years; first symptom autonomic in 18, parkinsonism in seven and cerebellar in two. Clinical phenotype at first visit was MSA-P (predominant parkinsonism) in 18, MSA-C (predominant cerebellar involvement) in eight, pure autonomic failure in two and Parkinson's disease in one. Clinical diagnosis at last visit was MSA for 28 cases. Autonomic failure was severe: CASS was 7.2±2.3 (maximum 10). TST% was 65.6±33.9% and exceeded 30% in 82% of patients. The most common pattern was global anhidrosis. Norepinephrine was normal supine (203.6±112.7) but orthostatic increment of 33.5±23.2% was reduced. Four clinical features (rapid progression, early postural instability, poor levodopa responsiveness and symmetric involvement) were common. CONCLUSION: The pattern of severe and progressive generalised autonomic failure with severe adrenergic and sudomotor failure combined with the clinical phenotype is highly predictive of MSA.

Hypohidrosis and hyperthermia during topiramate treatment in children.

Topiramate is one of the newer generation antiepileptic drugs with a beneficial clinical effect on various seizure types. In this study, we present the clinical findings of hypohidrosis and hyperthermia with topiramate in pediatric patients. The data were collected retrospectively on 173 patients diagnosed as epilepsy on topiramate treatment, and hypohidrosis-related symptoms induced by topiramate were found in 22 patients. Their mean age was 64.45 +/- 56.63 months. The mean duration of topiramate treatment was 7.09 +/- 2.46 months, and the mean dose was 5.37 +/- 1.75 mg/kg/day. All of the patients complained of hypohidrosis and hyperthermia. Six (27.2%) of them had facial flushing, 4 (18.1%) had heat sensation and only 1 (4.5%) had lethargy. Hypohidrosis-related symptoms resolved after discontinuation of the medication. In conclusion, children treated with topiramate should be cautioned regarding these potential adverse effects and advised to avoid its use during the hot summer season.

Osteomyelitis of the mandible in a group of 33 pediatric patients with congenital insensitivity to pain with anhidrosis.

OBJECTIVE: To determine the frequency of mandibular osteomyelitis (OM) in patients with congenital insensitivity to pain with anhidrosis (CIPA) and to relate its appearance to possible risk factors. METHODS: The records of 33 patients were reviewed for data concerning events of jaw OM, oral trauma, maxillofacial interventions, or OM of long bones. RESULTS: Eighteen percent of the patients had mandibular OM. Of the six patients, preceding oral laceration was documented in one and tooth extraction in two. Seventy percent of the patients had OM of the limbs, but only 15% overlapped, having both jaw and limb OM. Half of the patients with mandibular OM had also OM of the limbs during the following year. There seems to be a correlation between high frequency of limb OM (at least 5 events per patient) and appearance of mandibular OM. CONCLUSION: The incidence of mandibular OM is very high among patients with CIPA and can result in pathologic fracture and the need for open reduction and internal fixation. The reason for this phenomenon is presently not clear. Preventive and therapeutic strategy for CIPA patients should be undertaken to minimize this severe complication.

An epidemiologic study of anhidrosis in horses in Florida.

OBJECTIVE-To estimate prevalence of and identify factors associated with anhidrosis in horses in Florida. Design-Cross-sectional study and case-control study. ANIMALS-4,620 horses on 500 farms. PROCEDURES-A questionnaire was structured and mailed to farm owners or managers to obtain information related to diagnosis of anhidrosis in horses and exposure factors associated with this condition. The frequency of investigated farm- and animal-level factors was compared between farms and horses affected and not affected with anhidrosis, respectively. RESULTS-The prevalence of anhidrosis was 11% at the farm level and 2% at the animal level. The odds of anhidrosis were 2.13 and 4.40 times as high in farms located in central and southern Florida, respectively, compared with odds for farms in northern Florida. The odds of anhidrosis were 5.26 and 15.40 times as high in show and riding instruction operations, respectively, compared with odds for ranch operations. At the animal level, breed (Thoroughbreds and warmblood horses), foaling place (western or midwestern region of the United States), and family history of anhidrosis were significantly associated with anhidrosis. CONCLUSIONS AND CLINICAL RELEVANCE-This study provides new information on the prevalence of and factors for anhidrosis in horses in Florida. Horses with a family history of anhidrosis should be examined by a veterinarian for diagnosis of this condition before they are exposed to exercise in a hot and humid climate.

Hypohidrosis-related symptoms in pediatric epileptic patients with topiramate.

BACKGROUND: Topiramate is one of the most commonly prescribed newer antiepileptic drugs. However, we have encountered quite a few cases of pediatric epileptic patients on topiramate complaining about the symptoms related to hypohidrosis. The aim of this study was to determine the incidence and define the clinical characteristics of hypohidrosis-related symptoms with topiramate in pediatric patients. METHODS: Data was collected prospectively on 264 patients diagnosed as having epilepsy and treated with topiramate at the Department of Pediatrics, Chonbuk National University Hospital between July 2004 and July 2006. The data were collected by direct interview after at least 3 months had elapsed from the initiation of the medication. RESULTS: The study group was composed of 70 boys and 81 girls, with a mean age of 33.1 +/- 43.2 months. The mean duration of topiramate treatment was 13.4 +/- 15.0 months; 52 patients (34.4%) were treated with topiramate only and 99 patients (65.6%) were on polytherapy including topiramate; 59 out of 151 patients (39.1%) experienced hypohidrosis-related symptoms: such as facial flushing, lethargy, itching sensation, irritability with hyperthermia, heat sensation or heat intolerance. However, there were no patients complaining of hypohidrosis-related symptoms among those who were taking antiepileptic drugs other than topiramate. CONCLUSIONS: Our results suggest that topiramate induces hypohidrosis-related symptoms more often than we expected, especially in pediatric patients. We recommend that pediatric epileptic patients taking topiramate should be warned to avoid hot and humid environments, especially during the hot summer season.

Drug-induced hyperhidrosis and hypohidrosis: incidence, prevention and management.

The human sweating response is subject to the influence of diverse classes of drugs. Some act centrally at the hypothalamus or at spinal thermoregulatory centres, while others act at sympathetic ganglia or at the eccrine-neuroeffector junction. Pharmacological disturbances of sweating have broad clinical implications. Drugs that induce hyperhidrosis, or sweating in excess of that needed to maintain thermoregulation, can cause patient discomfort and embarrassment, and include cholinesterase inhibitors, selective serotonin reuptake inhibitors, opioids and tricyclic antidepressants. Drugs that induce hypohidrosis, or deficient sweating, can increase the risk of heat exhaustion or heat stroke and include antimuscarinic anticholinergic agents, carbonic anhydrase inhibitors and tricyclic antidepressants. As acetylcholine is the principal neuroeccrine mediator, anhidrosis is one of the clinical hallmarks by which acute anticholinergic toxicity may be recognized. The symptom of dry mouth often accompanies the less apparent symptom of hypohidrosis because the muscarinic M(3) acetylcholine receptor type predominates at both sweat and salivary glands. Management options include dose reduction, drug substitution or discontinuation. When compelling medical indications require continuation of a drug causing hyperhidrosis, the addition of a pharmacological agent to suppress sweating can help to reduce symptoms. When hypohidrotic drugs must be continued, deficient sweating can be managed by avoiding situations of heat stress and cooling the skin with externally applied water. The availability of clinical tests for the assessment of sudomotor dysfunction in neurological disease has enhanced recognition of the complex effects of drugs on sweating. Advances in the understanding of drug-induced anhidrosis have also enlarged the therapeutic repertoire of effective treatments for hyperhidrosis.

Fabry disease and the skin: data from FOS, the Fabry outcome survey.

BACKGROUND: Fabry disease (also known as Anderson-Fabry disease) is a rare, X-linked lysosomal storage disorder that is characterized by accumulation of globotriaosylceramide throughout a range of tissues in the body. OBJECTIVES: To ascertain the prevalence and nature of cutaneous manifestations in patients with Fabry disease and to relate these to the severity of systemic manifestations of the disease. METHODS: We have documented the dermatological features of this disease with reference to data from 714 patients (345 males, 369 females) registered on the Fabry Outcome Survey (FOS), a multicentre European database. RESULTS: We confirm that the commonest disease manifestation is angiokeratoma. Overall, 78% of males and 50% of females had one or more dermatological abnormality, the commonest being angiokeratoma (66% males, 36% females), hypohidrosis (53% males, 28% females), telangiectasia (23% males, 9% females) and lymphoedema (16% males, 6% females). We demonstrate for the first time that the presence of cutaneous vascular lesions correlates with the severity of the systemic manifestations of the disease (pain, renal failure, cardiac disease, premature cerebrovascular disease) as assessed by a severity scoring system. Although the condition is X linked, there is a surprisingly high prevalence of abnormalities in females. CONCLUSIONS: The FOS database is a useful epidemiological tool in establishing the variety and relevance of cutaneous manifestations in Fabry disease. The present study confirms that the presence of dermatological manifestations appears to be a marker of greater severity of systemic disease, which emphasizes the importance of the dermatological assessment of these patients.

Head and neck manifestations and quality of life of patients with ectodermal dysplasia.

OBJECTIVES: Ectodermal dysplasias (EDs) are a group of genetic disorders characterized by deficient ectodermal and mesodermal development. Studies examining resultant otolaryngologic issues are few. The objectives of this study were to delineate the head and neck manifestations and quality of life in EDs. STUDY DESIGN AND SETTING: For 75 individuals, comprehensive histories were taken and otolaryngologic examinations were performed, and subjects rated their otolaryngologic symptom severity. A validated quality of life instrument (SF-8) was administered. RESULTS: The majority of subjects had a diagnosis of hypohidrotic ED (72%). Otolaryngologic conditions included otitis media (28%), cerumen impaction (48%), nasal obstruction/crusting (51%), heat intolerance (76%), and eczema (39%). Physical findings included peg teeth/hypodontia (76%), alopecia (41%), nasal crusting (41%), and saddle nose deformity (44%). Quality of life scores were generally high. Overall, health was rated "good to excellent" by 87 percent. CONCLUSION: Patients with ED frequently experience significant otolaryngologic symptoms, although most patients report a good quality of life. SIGNIFICANCE: A greater understanding of the otolaryngologic issues in ED should help facilitate diagnosis and improve management.

A preliminary passive surveillance of clinical diseases of cart pulling camels in Faisalabad metropolis (Pakistan).

We identified clinical disorders of all 200 city-dwelling cart pulling male camels attending the Veterinary Teaching Hospital, University of Agriculture, Faisalabad, Pakistan during a 7-year period (1993-1999). Data were collected prospectively on a predesigned form and collated. Diagnoses of different diseases/disorders were based on clinical examination supplemented with relevant laboratory tests. A total of 463 entries of 34 different clinical diseases/disorders were recorded. Sarcoptic mange (35% of 200 camels) followed by anhidrosis (23%) and trypanosomosis (19%) were the three most frequently encountered disorders. The body system most often involved was the integument (31%) followed by gastrointestinal (21%), locomotory (12%), thermoregulatory (6%), blood (6%), urogenital (6%), lymphatic (3%), nervous (3%), respiratory (3%) and ocular (3%).

The spectrum of autoimmune autonomic neuropathies.

We analyzed the clinical characteristics of 18 patients (13 female, 5 male) who had autoimmune autonomic neuropathy (AAN) and ganglionic acetylcholine receptor (AChR) autoantibodies. Mean age was 61.4 years (standard deviation, 12.0 years). Ten patients had subacute symptom onset, six with an antecedent event. Eight patients had chronic AAN, characterized by insidious symptom onset, without antecedent event, and gradual progression. A majority of patients with high antibody values (>1.00 nmol/L) had a combination of sicca complex (marked dry eyes and dry mouth), abnormal pupillary light response, upper gastrointestinal symptoms, and neurogenic bladder. Chronic AAN segregated into two subgroups. One subgroup (N = 4) had low antibody titer (0.09 +/- 0.01 nmol/L) and a paucity of cholinergic symptoms. It was indistinguishable from pure autonomic failure. The other subgroup (N = 4) had high antibody titer (11.6 +/- 2.08 nmol/L), sicca complex, abnormal pupils, and neurogenic bladder; three had severe upper gastrointestinal dysfunction. Higher antibody titers correlated with greater autonomic dysfunction and more frequent cholinergic dysautonomia. These observations expand the clinical spectrum of AAN to include chronic cases, some being indistinguishable from pure autonomic failure, and support the concept that ganglionic AChR antibodies are important diagnostically and pathophysiologically in acquired dysautonomia.