Idiopathic segmental anhidrosis in an older patient presenting with recurrent dizziness.

Dizziness is one of the most common complaints encountered in the outpatient clinic, which is difficult to diagnose, especially in older patients because of the multifactorial nature of the disease. Although not commonly recognised, anhidrosis can also cause dizziness.We report a case of a woman in her 70s who presented with long-term recurrent dizziness. She had a history of frequent hospitalisations for heatstroke. Physical examination revealed markedly less sweating in the left axilla and soles than in the right. Minol test revealed that most of the left side of her body, including the face, was anhidrotic. She was diagnosed with idiopathic segmental anhidrosis. We administered steroid pulse therapy without observing any significant effects.Although anhidrosis is a rare disorder, a careful interview and physical examination should be conducted to confirm a history of heatstroke and the absence of sweating to avoid missing the disease.

Idiopathic Harlequin Syndrome in a Patient from Ethiopia: A Case Report.

Background: Harlequin syndrome is a rare disorder caused by autonomic nervous system dysfunction. It manifests as asymmetric facial flashing and sweating with contralateral anhidrosis. It may be primary (idiopathic) with a benign course or can occur secondary to structural abnormalities or iatrogenic factors. To our knowledge, there has been no report of idiopathic Harlequin syndrome published from Ethiopia. We are reporting this case since it signifies the existence of idiopathic Harlequin syndrome in our setting and the need to properly diagnose this condition. Case Presentation: We are reporting a 29-year-old female from Addis Ababa, Ethiopia, who presented with a complaint of left hemifacial hyperhidrosis of 8 years which worsen after routine household activities and exercise. Physical examination revealed left hemifacial hyperhidrosis with right-side anhidrosis. She was diagnosed with idiopathic Harlequin syndrome after an appropriate investigation revealed a nonremarkable finding. Symptomatic treatment showed no significant improvement and the patient was also counseled on the disease entity. Conclusions: The patient described here signifies an idiopathic Harlequin syndrome in an Ethiopian woman. This case highlights the existence of idiopathic Harlequin syndrome within our setting and the need to properly diagnose this condition.

Focal hypohidrosis in lesional skin in a probable case of confluent and reticulated papillomatosis: A case report with insight into the pathomechanism of recurrence.

Confluent and reticulated papillomatosis (CRP) is a rare skin disorder that develops in young adults and presents as persistent brown papules and plaques predominantly affecting the intertriginous areas, however, its etiopathogenesis remains elusive. Herein, we report a probable case of CRP with lesional hypohidrosis as detected by sweat test and provide insight into the pathomechanism. A 23-year-old man presented with nine-months history of painful sensation on his trunk without any skin change. The result of sweat test was compatible with acquired idiopathic generalized anhidrosis. Topical heparinoid and physical exercise improved the symptoms. However, he started to notice asymptomatic brownish reticulated macules on the trunk. Intriguingly, focal hypohidrosis, as detected by sweat test was evident on the macules. In histology, the lesional skin demonstrated hyperkeratosis, acanthosis, basal melanosis, mild papillomatosis, and obstruction of the sweat duct in the upper dermis, which were not observed in the peri-lesional skin. Accumulation of the sweat in the luminal aspect of the secretory portion and dilation of the sweat duct in the deeper dermis was detected in the lesional skin, as highlighted by anti-dermcidin staining. Aquaporin 5 expression in the secretory portion was more confined to the cell membrane in the lesional skin. Both brownish macules and lesional hypohidrosis simultaneously improved in summer and exacerbated in winter. Literature review found nine reports on recurrent CRP, and obesity was thought to be a major comorbidity in recurrent CRP cases. Obesity is often associated with sweat dysregulation. This, together with the findings in our case, implied the possible contribution of focal sweating abnormality in the pathogenesis of reticulated skin lesion in our case.

Genomic Association of Chronic Idiopathic Anhidrosis to a Potassium Channel Subunit in a Large Animal Model.

Similar to humans, the horse relies predominantly on the evaporation of sweat from the skin surface to dissipate excess body heat. Loss of the sweat response or anhidrosis can result in life-threatening hyperthermia. Anhidrosis occurs more frequently in some breeds as well as occurs at an increased frequency among individuals with a family history, suggesting a heritable component to the pathology. Given the natural occurrence and indications of genetic components in the etiology, we utilized genomics to better understand the molecular mechanisms involved in sweat response. We performed a case-control (n = 200) GWAS targeting cases of chronic idiopathic anhidrosis in a controlled genetic background to discover the contributing regions and interrogated gene function for roles in the sweating mechanism. A region containing the KCNE4 gene, which encodes the ß-subunit of a potassium channel protein with a possible function in sweat gland outflow, was associated (P = 1.13 × 10-07) with chronic idiopathic anhidrosis through GWAS. A candidate mutation (NC_009149.3:g.11813731A > G, rs68643109) disrupting the KCNE4 protein structure could explain the disease but requires further investigation in larger populations. We show the potential role of ion channels and cellular damage in sweat response, correlating anhidrosis as a possible effect of congenital channelopathy.

A classic variant of Fabry disease in a family with the M296I late-onset variant.

Fabry disease is an X-linked recessive disease of glycosphingolipid metabolism caused by deficiency or reduced activity of α-galactosidase A. Fabry disease phenotypes are known to consist of a classic variant and a late-onset variant. In patients with Fabry disease, the phenotype is generally considered to be defined (at least partially) by the genotype. However, patients with the classic variant have been encountered in families with mutations that are expected to produce the late-onset variant. Here, we describe a 4-year-old boy with a classic variant of Fabry disease in a family with the M296I late-onset variant. The patient's grandfather, mother, and aunt experienced late-onset disease, characteristic of the M296I variant. Conversely, the patient experienced typical disease symptoms in childhood. He had symptoms of hypohidrosis and associated heat accumulation. He cried at night due to the occurrence of severe acroparaesthesia. This symptom became more pronounced in warmer climates. Although the patient's family had a late-onset variant mutation of Fabry disease, we determined that the patient's symptoms were similar to those of classic Fabry disease. Therefore, the patient began enzyme replacement therapy, which alleviated his symptoms. Notably, enzyme replacement therapy led to rapid improvement of the patient's subjective symptoms. Thus, we presumed that the patient's symptoms supported a diagnosis of classic Fabry disease. These findings suggest that childhood symptoms may occur in patients with Fabry disease, even in families with late-onset variant mutations. The genotype-phenotype correlation in Fabry disease remains controversial.

Isolated hypohidrosis: pathogenesis and treatment.

BACKGROUND: Hypohidrosis can result in heat injury, a potentially fatal condition. The majority of hypohidrosis cases have no associated abnormalities or secondary causes, and are termed "isolated hypohidrosis". These are clinically divided into miliaria profunda (MP), acquired idiopathic generalized anhidrosis (AIGA) and idiopathic partial hypohidrosis (IPH). The pathogenesis of isolated hypohidrosis remains largely unknown and there is no established effective treatment. OBJECTIVES: To elucidate the pathogenesis of isolated hypohidrosis using in vivo high-definition optical coherence tomography (HD-OCT) imaging and assess the therapeutic profile of oral retinoids for this condition. MATERIALS & METHODS: We conducted a retrospective analysis on all patients with isolated hypohidrosis in our neuro-dermatology clinic over a 5.75-year period. All patients routinely underwent standardised exercising and whole-body starch-iodine testing, followed by non-invasive HD-OCT skin imaging. Patients' demographics, disease characteristics, histology and treatment history were analysed. RESULTS: Of the 51 patients identified with isolated hypohidrosis; 23 were diagnosed with MP, 14 with AIGA, and 14 with IPH. In these patients, HD-OCT imaging led to the identification of sub-stratum corneal hypo-refractile material with underlying dilated sweat ducts, not present in healthy controls. The size of this material was most pronounced in MP, followed by AIGA, and then IPH. Post-treatment, the material decreased in size. Treatment response was reported in 90.6% patients with isotretinoin and 75.0% with acitretin. No recurrence has been reported to date. Side effects were largely anticipated and common. CONCLUSION: The pathogenesis of isolated hypohidrosis involves obstruction of sweat orifices at the stratum corneum. Treatment with oral retinoids, particularly isotretinoin, is effective and safe.

[The 482nd case: vomiting, paroxysmal dizziness and anhidrosis].

A 31-year-old woman was admitted to Peking Union Medical College Hospital presented with intermittent vomiting and abdominal pain for 2 years, and recurrence with paroxysmal dizziness for 1 month. This patient was diagnosed with systemic lupus erythematosus (SLE) 2 years ago with involvement of gastrointestinal and urinary tracts. One month ago, repeated vomiting and nausea recurred. No laboratory and imaging abnormalities were found in central nervous system and gastrointestinal evaluation. Orthostatic hypotension and fluctuation of blood pressure were recorded during hospitalization. Combined with sexual dysfunction, left adie pupil, anhidrosis and abnormal sympathetic skin response, autonomic nerve dysfunction related to SLE was diagnosed. After treated with pulse glucocorticoids and intravenous immunoglobulin, the patient's symptoms improved remarkably. Orthostatic hypotension in SLE patients may link to autonomic nerve dysfunction.

Sudomotor Dysfunction.

Disorders of sudomotor function are common and diverse in their presentations. Hyperhidrosis or hypohidrosis in generalized or regional neuroanatomical patterns can provide clues to neurologic localization and inform neurologic diagnosis. Conditions that impair sudomotor function include small fiber peripheral neuropathy, sudomotor neuropathy, myelopathy, α-synucleinopathies, autoimmune autonomic ganglionopathy, antibody-mediated hyperexcitability syndromes, and a host of medications. Particularly relevant to neurologic practice is the detection of postganglionic sudomotor deficits as a diagnostic marker of small fiber neuropathies. Extensive anhidrosis is important to recognize, as it not only correlates with symptoms of heat intolerance but may also place the patient at risk for heat stroke when under conditions of heat stress. Methods for assessing sudomotor dysfunction include the thermoregulatory sweat test, the quantitative sudomotor axon reflex test, silicone impressions, and the sympathetic skin response.