Functional characterization of variants in human ABCC11, an axillary osmidrosis risk factor.

Human ATP-binding cassette transporter C11 (ABCC11) is a membrane protein exhibiting ATP-dependent transport activity for a variety of lipophilic anions including endogenous substances and xenobiotics such as anti-cancer agents. Accumulating evidence indicates that ABCC11 wild type is responsible for the high-secretion phenotypes in human apocrine glands including wet type of earwax and the risk of axillary osmidrosis. Also, a less-functional variant of ABCC11 was reportedly associated with a risk for drug-induced toxicity in humans. Thus, functional change in ABCC11 may affect individual's constitution and drug toxicity, which led us to reason that functional validation of genetic variations in ABCC11 should be of importance. Therefore, in addition to p.G180R (a well-characterized non-functional variant of ABCC11), we studied cellular expression and function of 10 variants of ABCC11. In this study, ABCC11 function was evaluated as an ATP-dependent transport of radio labeled-dehydroepiandrosterone sulfate using ABCC11-expressing plasma membrane vesicles. Except for p.G180R, other 10 variants were maturated as an N-linked glycoprotein and expressed on the plasma membrane. We found that six variants impaired the net cellular function of ABCC11. Among them, p.R630W was most influential. Including this identification of a significantly-dysfunctional variant, our findings will extend our understanding of genetic variations and biochemical features of ABCC11 protein.

Hematidrosis (bloody sweat): a review of the recent literature (1996-2016).

Hematidrosis is an eccrine sweat disorder characterized by one or more episodes of spontaneous, bloody sweating from non-traumatized skin. The author carried out a systematic review of all cases of hematidrosis reported in PubMed over the past 20 years. A total of 25 cases were reviewed; 21 were women (84%), the median age was 13 years (range 9-72), and the majority (62%) were from Asia, mainly India. Hematidrosis was located on the face-including the forehead (40%), eyes (40%), and ears (36%)-in 96% of the cases and on the umbilicus in 24% and the palms in 20%. Prodromal symptoms were reported by almost 30% of the patients. Possible triggering factors were identified in 56% of the cases; most of these (86%) were stress factors within families (conflicts or abuse) or at school. In two cases, platelet dysfunction and epilepsy were suspected as culprits. Nine patients had a psychiatric diagnosis associated with hematidrosis. The outcome was favorable in most of the cases with medical treatment (e.g., beta-blocker, anxiolytics) and psychological support. The number of cases has increased in recent years. Hematidrosis appears to be a somatization disorder that mainly affects children from developing countries. Its physiopathology remains largely unknown. It deserves better recognition because it is usually a temporary condition when managed properly.

Chromhidrosis due to exogenous oxidizing heavy metals: Clinical and laboratory findings.

BACKGROUND/OBJECTIVES: Chromhidrosis is a rare condition of which there are only a few case reports in the literature. The aim of this study was to evaluate clinical, laboratory, and possible environmental factors in 13 patients with chromhidrosis to elucidate causative agents. METHODS: Data were obtained from the medical records of 13 patients with colored sweating between October 2015 and November 2016 (7 infants <1 year of age, 5 adults, 1 adolescent). RESULTS: Physical examination was normal in all patients. Nine of 12 had high calculated serum free copper (75%). Urine glutamine was measured in 13 patients and was high in 11 (84.6%). Ten patients drank natural mineral water from Uludag Mountain, and two were exposed to an intrauterine device containing copper. One patient (8%) was not exposed to Uludag Mountain natural water or an intrauterine device. CONCLUSION: We propose that chronic exposure to water or devices that contain high amounts of heavy metal and ammonium may contribute to CH.

Eccrine Chromhidrosis in an Adolescent with Sickle Cell Disease.

Eccrine chromhidrosis can occur secondary to hyperbilirubinemia. We report an adolescent with sickle cell disease who presented with eccrine chromhidrosis on his palmar and plantar surfaces. He had extremely high levels of conjugated bilirubin but no fever. This is the youngest known reported patient with eccrine chromhidrosis and the first in a patient with sickle cell disease.

Pseudochromhidrosis: report and review of literature.

Chromhidrosis is a rare condition where colored sweat comes from the apocrine or eccrine glands. Pseudochromhidrosis is an uncommon condition where colored sweat is related to specific dye-producing bacteria, drugs, dyes, or chemical agents. This article provides a literature review of the various etiology, investigation, treatment, and prognosis. We propose an investigative algorithm to assist dermatologists, pediatric dermatologists, and general practitioners to diagnose this uncommon condition. The treatment options rely on the primary etiology such as removing dyes and chemical agents first and then treating the chromogenic bacteria. Topical and oral erythromycin seems to be the most effective treatment both in unidentified and identified chromogenic bacteria cases. Results and prognosis were excellent and without recurrence.

Sweating in Systemic Abnormalities: Uremia and Diabetes Mellitus.

Sweating disorders are sometimes observed in various systemic diseases that include genetic disorders, organ damage, metabolic impairment, autoimmune diseases, and neuropathic disorders. In these diseases, various symptoms such as autonomic failures, psychopathic disorders, abnormal skin innervation, and sweat gland dysfunction can interact with one another in diverse ways, resulting in impaired sweating. This review focuses on the influence of uremia (with or without hemodialysis) and diabetes mellitus on impaired sweating. Dialysis patients perspire less, but their sweat contains higher levels of uremic toxins than do healthy subjects. Neuropathic disorders in diabetes patients develop in relation to disease severity and can impair sweating. Physicians should consider the development of various problems, such as increased body temperature, dry skin, and increased susceptibility to infection, due to decreased sweating, as they are often found in these systemic abnormalities.

Sympathetic cardiovascular and sudomotor functions are frequently affected in early multiple sclerosis.

OBJECTIVE: The aim of this study was to determine the prevalence of autonomic dysfunction using the composite autonomic scoring scale (CASS) and heart rate variability (HRV) in patients with clinically isolated syndrome (CIS) and to correlate autonomic dysfunction with other measures of MS disease activity. METHODS: CASS, HRV and plasma catecholamines during supine and tilted phase were performed in 104 CIS patients. MRI findings were analyzed for total number of lesions and the presence of brainstem and cervical spinal cord lesions. RESULTS: Autonomic dysfunction (CASS >1) was present in 59.8 % of patients, parasympathetic dysfunction in 5 %, sympathetic in 42.6 % and sudomotor in 32.7 % of patients. Patients with autonomic dysfunction on CASS had lower level of norepinephrine in the supine position compared to patients without autonomic dysfunction (1.06 ± 0.53 vs. 1.37 ± 0.86, p = 0.048). The CASS score showed positive correlation with s-HF (r = 0.226, p = 0.031), s-SDNN (r = 0.221, p = 0.035), t-HF (r = 0.225, p = 0.032), and t-HFnu (r = 0.216, p = 0.04), and a negative correlation with t-LF/HF (r = -0.218, p = 0.038). More patients with MRI brainstem lesions had a positive adrenergic index (p = 0.038). Patients with MRI brainstem lesions also had a lower t-SDNN (26.2 ± 14.2 vs. 32 ± 13.3, p = 0.036) and a lower t-LF (median 415.0 vs. 575.5, p = 0.018) compared to patients without these lesions. Patients with adrenergic index ≥1 had a significantly higher standing heart rate compared to patients with an adrenergic index of 0 (96 ± 13.5 vs. 90 ± 12, p = 0.032). CONCLUSION: Autonomic (primarily sympathetic) dysfunction is present in a large proportion of early MS patients and it seems to be related to brainstem involvement.

Blue-colored sweating: four infants with apocrine chromhidrosis.

Apocrine chromhidrosis is a very rare, idiopathic disorder of the sweat glands characterized by the secretion of colored sweat. Because hormonal induction increases sweating, the symptoms of apocrine chromhidrosis usually begin after puberty. Although treatment may not be necessary in some cases, capsaicin cream and 20% aluminum chloride hexahydrate solution have been successfully used to treat patients requiring intervention. Here we report four cases with apocrine chromhidrosis. To the best of our knowledge, our patients are the youngest cases reported in the literature.

A curious case of blue-green discoloration in a middle-aged indian man: Chromhidrosis.

INTRODUCTION: Chromhidrosis is a rare sweat gland disorder characterized by the excretion of colored sweat. It can be classified as apocrine, true eccrine, and pseudochromhidrosis. Amongst the different types of chromhidrosis, green chromhidrosis is extremely rare. We describe herein a case of blue green chromhidrosis induced by ingestion of homeopathic medicine. CASE REPORT: A middle aged man presented to us with blue green discoloration of hands and feet. There was a preceding history of ingestion of homeopathic medication. Histopathology from the involved skin showed greenish particles within eccrine glands. Initial blood copper level was high which returned to normal level after discontinuation of the homeopathic medicine. Spectrophotometry revealed high copper content of the green sweat. CONCLUSION: Our case emphasizes the importance of considering any type of ingested medicine, including homeopathic medicine, as a probable cause of chromhidrosis.

Enlargement of eccrine angiomatous hamartoma following trauma.

Eccrine angiomatous hamartoma (EAH) is a rare, benign hamartoma of eccrine and vascular components that predominantly affects children. Growth is typically commensurate with the child's growth. Herein we report an additional case of this rare entity that enlarged after trauma in a 7-year-old girl.

Skin hygiene for patients with bariatric needs.

Patients with bariatric needs are likely to experience skin problems because maintaining skin hygiene, particularly between skin folds, can be a challenge. This article is a summary of a literature review that explored the evidence on skin hygiene for people with bariatric needs. The findings reveal a gap in the evidence base and the authors make several recommendations for further research.