Genomes and Genes
Summary: 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.
- Ahmed B, Yazdanie N. Hypohidrotic ectodermal dysplasia (HED). J Coll Physicians Surg Pak. 2006;16:61-3 pubmed..It is characterized by lack of sweat glands (hypohidrosis), nail dystrophy(onychodysplasia), alopecia (hypotrichosis), defective palms and soles (palmoplantar ..
- Bremner F, Smith S. Pupillographic findings in 39 consecutive cases of harlequin syndrome. J Neuroophthalmol. 2008;28:171-7 pubmed publisher..Anecdotal reports suggest that some of these patients have abnormal pupils. In this study we set out to systematically investigate autonomic pupil disturbances in an unselected cohort of patients with harlequin syndrome...
- Rodrigues R. Three successive generations of women with anhidrotic/hypohidrotic ectodermal dysplasia. J Natl Med Assoc. 2005;97:99-101 pubmed..The majority of reported cases of ectodermal dysplasias have historically been X-linked recessive, but our findings indicate that an autosomal version may be more prevalent than previously thought. ..
- Indo Y, Tsuruta M, Hayashida Y, Karim M, Ohta K, Kawano T, et al. Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nat Genet. 1996;13:485-8 pubmed..These results also implicate genes encoding other TRK and neurotrophin family members as candidates for developmental defect(s) of the nervous system...
- Blüschke G, Nüsken K, Schneider H. Prevalence and prevention of severe complications of hypohidrotic ectodermal dysplasia in infancy. Early Hum Dev. 2010;86:397-9 pubmed publisher..Today, mortality of HED and the risk of hyperthermic brain damage are still increased, but lower than reported previously. ..
- Cheshire W, Fealey R. Drug-induced hyperhidrosis and hypohidrosis: incidence, prevention and management. Drug Saf. 2008;31:109-26 pubmed..Drugs that induce hypohidrosis, or deficient sweating, can increase the risk of heat exhaustion or heat stroke and include antimuscarinic ..
- Otsu U, Moriwaki S, Iki M, Nozaki K, Horiguchi Y, Kiyokane K. Early blistering, poikiloderma, hypohidrosis, alopecia and exocrine pancreatic hypofunction: a peculiar variant of Rothmund-Thomson syndrome?. Eur J Dermatol. 2008;18:632-4 pubmed publisherA 20-year-old male developed early blistering, poikiloderma, hypohidrosis, alopecia and exocrine pancreatic hypofunction caused by atrophy and fatty replacement of the pancreas...
- Naeem M, Muhammad D, Ahmad W. Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia. Br J Dermatol. 2005;153:46-50 pubmed..Our findings extend the body of evidence that supports the importance of the ectodysplasin A1 isoform receptor, a member of the tumour necrosis factor receptor family, in the development of ectodermal appendages. ..
- Kristenová P, Peterka M, Lisi S, Gendrault J, Lesot H, Peterkova R. Different morphotypes of functional dentition in the lower molar region of tabby (EDA) mice. Orthod Craniofac Res. 2002;5:205-14 pubmed..The identification of the distinct morphotypes made possible to classify the structural variability of the mandibular functional dentition in Ta mice. ..
- Woiczik M, D Astous J. Orthopaedic manifestations of Navajo familial neurogenic arthropathy. J Pediatr Orthop. 2010;30:289-95 pubmed publisher..Patients are found to have a myriad of orthopaedic abnormalities, and surgical intervention, while sometimes indicated, can be fraught with complications. Level IV, case series. ..
- Sybert V. Hypohidrotic ectodermal dysplasia: argument against an autosomal recessive form clinically indistinguishable from X-linked hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome). Pediatr Dermatol. 1989;6:76-81 pubmedHypohidrotic ectodermal dysplasia (HED) is a well-described, X-linked recessive disorder characterized by hypohidrosis, hypodontia, and hypotrichosis in males...
- Fung E, Nelson E. Oligohydrosis underestimated side effect with topiramate treatment. Indian J Pediatr. 2007;74:694 pubmed
- Subramanian A, Starr Marshall K, Layer G. An investigation into the effect of axillary surgery on ipsilateral axillary sweating--a pleasing 'complication' or a potential treatment for hyperhidrosis?. Breast. 2005;14:415-8 pubmed..In 36 cases, patients reported no change in axillary sweating (mean 35 months), whereas 29 patients reported a decrease (mean 50 months). This result was statistically significant at the 95% confidence interval (p=0.022). ..
- Dalapicola M, Veasey J, Lellis R. Syndrome in question. An Bras Dermatol. 2016;91:111-2 pubmed publisher..The aspects of the syndrome are put to discussion due to the case of a male patient, caucasian, 47 years old, with clinical onset of 25 years. ..
- Moya Amoros J, Prat Ortells J, Morera Abad R, Ramos Izquierdo R, Villalonga Badell R, Ferrer Recuerdo G. [Sympathetic dermatomes corresponding to T2 and T3 ganglia. A prospective study of 100 superior thoracic sympathicolytic procedures]. Arch Bronconeumol. 2003;39:19-22 pubmed..The cutaneous area innervated by the sympathetic T2 and T3 ganglia extends to zones influenced by T1 in up to 20.75% of patients with primary hyperhidrosis. ..
- Galicia S, Lewis S, Metman L. Severe topiramate-associated hyperthermia resulting in persistent neurological dysfunction. Clin Neuropharmacol. 2005;28:94-5 pubmed..To our knowledge, this is the first case of topiramate-associated hyperthermia to result in residual cerebellar and cognitive dysfunction. ..
- Akahane M, Matsumoto S, Kanagawa Y, Mitoma C, Uchi H, Yoshimura T, et al. Long-Term Health Effects of PCBs and Related Compounds: A Comparative Analysis of Patients Suffering from Yusho and the General Population. Arch Environ Contam Toxicol. 2018;74:203-217 pubmed publisher..Other symptoms and diseases associated with Yusho included orthostatic hypotension, hypohidrosis, dysgeusia, Basedow's disease, hoarseness, cardiac insufficiency, tachycardia, eczema, and hair loss...
- Zankl A, Addor M, Cousin P, Gaide A, Gudinchet F, Schorderet D. Fatal outcome in a female monozygotic twin with X-linked hypohydrotic ectodermal dysplasia (XLHED) due to a de novo t(X;9) translocation with probable disruption of the EDA gene. Eur J Pediatr. 2001;160:296-9 pubmed..Morbidity and mortality of ectodermal dysplasias in infancy and early childhood can be significant. Early diagnosis by paediatricians is important and complications should be anticipated. ..
- Shimizu J, Hashimoto M, Murayama S, Tsuji S. A 52-year-old man with hypohidrosis. Neuropathology. 2006;26:592-4 pubmed
- McEwan Jenkinson D, Elder H, Bovell D. Equine sweating and anhidrosis Part 1--equine sweating. Vet Dermatol. 2006;17:361-92 pubmed
- Campuzano Martín S, Santos Juanes J, Medina Villanueva A, Sánchez del Río J. [Hypohidrotic ectodermal dysplasia]. An Pediatr (Barc). 2005;62:393-4 pubmed
- Kramer H, Angerer C, Erbguth F, Schmelz M, Birklein F. Botulinum Toxin A reduces neurogenic flare but has almost no effect on pain and hyperalgesia in human skin. J Neurol. 2003;250:188-93 pubmed..In contrast, the analgesic effect of BoNT/A was very limited. Therefore we assume that other than neuropeptide mechanisms must be important for BoNT/A induced pain relief in clinical pain syndromes. ..
- Banchellini E, Macchiarini S, Dini V, Rizzo L, Tedeschi A, Scatena A, et al. Use of nanotechnology-designed footsock in the management of preulcerative conditions in the diabetic foot: results of a single, blind randomized study. Int J Low Extrem Wounds. 2008;7:82-7 pubmed publisher..05) improved in all the parameters evaluated. No adverse events were recorded in both groups during the study. The use of hydrating agents carried by nanocapsules-loaded socks is safe and effective for the neuropathic diabetic foot. ..
- Kobayashi H, Aiba S, Yamagishi T, Tanita M, Hara M, Saito H, et al. Cholinergic urticaria, a new pathogenic concept: hypohidrosis due to interference with the delivery of sweat to the skin surface. Dermatology. 2002;204:173-8 pubmed..In contrast, there are scattered reports of CU associated with acquired generalized hypohidrosis. We have recently examined 2 patients with CU in both of whom we noticed the presence of extensive hypohidrosis ..
- Yotsumoto S, Setoyama M, Hozumi H, Mizoguchi S, Fukumaru S, Kobayashi K, et al. A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis. J Invest Dermatol. 1999;112:810-4 pubmed
- Abe M, Tamura A, Sogabe Y, Hashimoto C, Shyuto T, Ishikawa O. Harlequin sign (hemifacial flushing and contralateral hypohidrosis) in a 4-year-old girl with Horner syndrome. Pediatr Dermatol. 2006;23:358-60 pubmed..Based on the clinical examination, we speculated that the responsible lesion might be in the preganglionic areas. Harlequin sign was informative for making the diagnosis of Horner syndrome. ..
- Bonkowsky J, Johnson J, Carey J, Smith A, Swoboda K. An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis. Pediatrics. 2003;112:e237-41 pubmed..Immunohistochemistry of skin biopsy specimens, together with routine nerve conduction studies, can provide quick and reliable confirmation if CIPA is clinically suspected...
- Benhalima H, Kerrary S, Kamal D, Boulaich M, Kzadri M. [Congenital insensitivity to pain: difficulty of management]. Rev Stomatol Chir Maxillofac. 2012;113:46-9 pubmed publisher..Treatment remains preventive. The patient must observe a very strict hygiene. Prevention for maxillofacial involvement consists in breaking the cycle of oral self-mutilation. ..
- Hirano S, Mason A, Salkey K, Williams J, Pariser D. Light microscopic hair shaft analysis in ectodermal dysplasia syndromes. Pediatr Dermatol. 2012;29:414-20 pubmed publisher..Light microscopy is a poor adjuvant tool in the diagnosis of ED syndromes. Most findings are nonspecific and not sufficiently sensitive. ..
- Honma M, Nozaki H, Nagahata H, Fujii M, Shibuya T, Kanno K, et al. Serum carcinoembryonic antigen specifically increases among various serum markers of adenocarcinoma in hypohidrosis or conditions related to hypohidrosis. J Dermatol. 2017;44:903-908 pubmed publisherAnhidrosis/hypohidrosis are conditions presenting various level of sweating dysfunction...
- Armand A, Laziz I, Djeghloul D, Lecolle S, Bertrand A, Biondi O, et al. Apoptosis-inducing factor regulates skeletal muscle progenitor cell number and muscle phenotype. PLoS ONE. 2011;6:e27283 pubmed publisher..Thus, AIF protects skeletal muscles against oxidative stress-induced damage probably by protecting satellite cells against oxidative stress and maintaining skeletal muscle stem cell number and activation. ..
- Lo Muzio L, Bucci P, Carile F, Riccitiello F, Scotti C, Coccia E, et al. Prosthetic rehabilitation of a child affected from anhydrotic ectodermal dysplasia: a case report. J Contemp Dent Pract. 2005;6:120-6 pubmed..This option minimized the sacrifice of healthy dental tissue. Prosthodontic and restorative treatment was provided for the psychological and social comfort of the young patient. ..
- Zuberbier T, Worm M. Commentary on ''dynamic analysis of histamine-mediated attenuation of acetylcholine-induced sweating via GSK3? activation''. J Invest Dermatol. 2014;134:302-303 pubmed publisher..They provide evidence that acetylcholine-induced sweating can be inhibited via H1-receptor activation. This work suggests that H1 blockers may be useful in patients with AD. ..
- Karam C. Harlequin syndrome in a patient with putative autoimmune autonomic ganglionopathy. Auton Neurosci. 2016;194:58-9 pubmed publisher..An autoimmune etiology should be considered in patients with Harlequin syndrome and immunomodulatory treatment could be attempted, especially when there is evidence of a more generalized autoimmune autonomic ganglionopathy. ..
- Kitaba S, Matsui S, Iimuro E, Nishioka M, Kijima A, Umegaki N, et al. Four cases of atopic dermatitis complicated by Sjögren's syndrome: link between dry skin and autoimmune anhidrosis. Allergol Int. 2011;60:387-91 pubmed publisher..These results suggest that the impaired sweat response in AD is attributable to an abnormal sudomotor axon reflex, which is accelerated and modulated when complicated by SS resulting in dry skin in the present cases. ..
- Sharabi Y, Li S, Dendi R, Holmes C, Goldstein D. Neurotransmitter specificity of sympathetic denervation in Parkinson's disease. Neurology. 2003;60:1036-9 pubmed..All 12 had normal QSART results. The sympathetic nervous system lesion in PD involves loss of postganglionic catecholaminergic but not cholinergic nerves. ..
- Palm F, LOser C, Gronau W, Voigtlander V, Grau A. Successful treatment of acquired idiopathic generalized anhidrosis. Neurology. 2007;68:532-3 pubmed
- Haenssle H, Finkenrath A, Hausser I, Oji V, Traupe H, Hennies H, et al. Effective treatment of severe thermodysregulation by oral retinoids in a patient with recessive congenital lamellar ichthyosis. Clin Exp Dermatol. 2008;33:578-81 pubmed publisherIchthyoses are a heterogenous group of keratinization disorders, which are often associated with hypohidrosis. We report a 42-year-old man with generalized thick brownish scales and severe thermodysregulation leading to heat intolerance...
- Chin Y, Chang T, Chang C. Idiopathic pure sudomotor failure and cholinergic urticaria in a patient after acute infectious mononucleosis infection. Clin Exp Dermatol. 2013;38:156-9 pubmed publisher..This is the first such case, to our knowledge, and the patient was successfully treated with steroid pulse therapy. ..
- Blecher S, Kapalanga J, Lalonde D. Induction of sweat glands by epidermal growth factor in murine X-linked anhidrotic ectodermal dysplasia. Nature. 1990;345:542-4 pubmed
- Saft C, Andrich J, Muller T, Przuntek H, Stucker M. [Segmental dysfunction of sweating in multiple system atrophy]. Hautarzt. 2005;56:773-6 pubmed..The findings in our patient could be explained by a depletion of catecholaminergic sympathetic neurons of the thoracic spinal neurons. ..
- Gopinath V, Manoj K, Mahesh K. Hypohidrotic ectodermal dysplasia--a case report. J Indian Soc Pedod Prev Dent. 1999;17:90-2 pubmed
- Jarade E, El Sheikh H, Tabbara K. Indolent corneal ulcers in a patient with congenital insensitivity to pain with anhidrosis: a case report and literature review. Eur J Ophthalmol. 2002;12:60-5 pubmed..We report herewith, this vision threatening corneal congenital abnormality. Early diagnosis and prompt treatment are mandatory to prevent corneal complications such as scarring and perforation. ..
- Ades L, Rogers M, Sillence D. An X-linked reticulate pigmentary disorder with systemic manifestations: report of a second family. Pediatr Dermatol. 1993;10:344-51 pubmed..episodes of respiratory illness including pneumonia, a progressive reticulate pigmentation of the skin, hypohidrosis, and photophobia...
- Paschos E, Huth K, Hickel R. Clinical management of hypohidrotic ectodermal dysplasia with anodontia: case report. J Clin Pediatr Dent. 2002;27:5-8 pubmed..Complete dentures were provided to encourage a normal psychological development and to improve the function of the stomatognathic system. ..
- Shaheen R, Ansari S, Alshammari M, Alkhalidi H, Alrukban H, Eyaid W, et al. A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency. J Med Genet. 2013;50:431-6 pubmed publisher..a large multiplex consanguineous Saudi family with an unusual constellation of severe intellectual disability, hypohidrosis, abnormal teeth, and acquired microcephaly...
- Thomas C, Suranyi E, Pride H, Tyler W. A child with hypohidrotic ectodermal dysplasia with features of a collodion membrane. Pediatr Dermatol. 2006;23:251-4 pubmed..We suspect that scaling with features of collodion membrane is more common in infants than is reflected in the literature, and we describe another such infant, later diagnosed with hypohidrotic ectodermal dysplasia. ..
- Zhao J, Hua R, Zhao X, Meng Y, Ao Y, Liu Q, et al. Three novel mutations of the EDA gene in Chinese patients with X-linked hypohidrotic ectodermal dysplasia. Br J Dermatol. 2008;158:614-7 pubmed
- Thami G, Kaur S, Kanwar A. Acquired idiopathic generalized anhidrosis: a rare cause of heat intolerance. Clin Exp Dermatol. 2003;28:262-4 pubmed..A case of generalized absence of sweating without a neurological deficit is described, and the implications of heat intolerance are discussed. ..
- Wilson D, Corbett A, Steel C, Pannirselvam R, Bovell D. A preliminary study of the short circuit current (Isc) responses of sweat gland cells from normal and anhidrotic horses to purinergic and adrenergic agonists. Vet Dermatol. 2007;18:152-60 pubmed..The trigger for these failures warrants further investigation. ..
- Ballestero Díez M, García Río I, Dauden E, Corrales Arroyo M, Garcia Diez A. Ross syndrome, an entity included within the spectrum of partial disautonomic syndromes. J Eur Acad Dermatol Venereol. 2005;19:729-31 pubmed..The patient was otherwise healthy except for an aneurysm of the left medium brain artery not responsible for the syndrome. ..