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.
Publications204 found, 100 shown here
- X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane proteinJ Kere
Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
Nat Genet 13:409-16. 1996..The gene is expressed in keratinocytes, hair follicles, and sweat glands, and in other adult and fetal tissues. The predicted EDA protein may belong to a novel class with a role in epithelial-mesenchymal signalling...
- [Ectodermal dysplasia syndrome]K Mortier
Afdeling Mondziekten en Kaakchirurgie van het Academisch Ziekenhuis Vrije Universiteit, Brussel, Belgie
Ned Tijdschr Tandheelkd 110:190-2. 2003..a heterogeneous group of disorders characterized by developmental dystrophies of ectodermal structures, such as hypohidrosis, hypotrichosis, onychodysplasia and hypodontia or anodontia...
- Anesthetic problems in Christ Siemens Touraine syndrome--a case report--Renju Kuriakose
Regional Cancer Centre, Trivandrum, Kerala, India
Middle East J Anesthesiol 18:647-50. 2005
- Molecular aspects of hypohidrotic ectodermal dysplasiaMarja L Mikkola
Developmental Biology Program, Institute of Biotechnology, University of Helsinki, 00014 Helsinki, Finland
Am J Med Genet A 149:2031-6. 2009..The developmental role of Eda will be discussed in light of loss- and gain-of-function mouse models with emphasis on the past few years...
- Three successive generations of women with anhidrotic/hypohidrotic ectodermal dysplasiaRui G Rodrigues
Department of Pediatrics, Penn State Milton S Hershey Medical Center, Hershey, PA 17033 0850, USA
J Natl Med Assoc 97:99-101. 2005..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...
- A case of disseminated DLE complicated by atopic dermatitis and Sjögren's syndrome: link between hypohidrosis and skin manifestationsSaki Matsui
Department of Dermatology Integrated Medicine, Graduate School of Medicine Osaka University, 2 2 Yamada oka, Suita, Osaka, 565 0871, Japan
Mod Rheumatol 21:101-5. 2011..A quantitative sweating test showed impaired sweating of both lesional and non-lesional skin due to underlying hypohidrosis that was related to AD and SS...
- Hypohidrosis related to the administration of topiramate to childrenJ Arcas
Pediatric Neurology, La Paz University Hospital, Madrid, Spain
Epilepsia 42:1363-5. 2001..METHODS: We describe three patients with epilepsy who were treated with TPM and developed hypohidrosis, heat and exercise intolerance, as well as fever...
- Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosisY Indo
Department of Pediatrics, Kumamoto University School of Medicine, Japan
Nat Genet 13:485-8. 1996..These results also implicate genes encoding other TRK and neurotrophin family members as candidates for developmental defect(s) of the nervous system...
- Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasiaN Chassaing
Service de Genetique Medicale, Hopital Purpan, Toulouse, France
Hum Mutat 27:255-9. 2006..The correlation between the nature and location of EDAR mutations and their mode of inheritance is discussed. A genotype-phenotype relationship was evaluated, since such data could be helpful for genetic counseling...
- Autosomal dominant hypohidrotic ectodermal dysplasia in a large familyA L Aswegan
Gunderson Medical Foundation, La Crosse, Wisconsin, USA
Am J Med Genet 72:462-7. 1997..We reviewed 40 autosomal dominant ectodermal dysplasia syndromes. This family bears some resemblance to a family described by Jorgensen et al. ; however, it appears to represent a disorder that has not been described previously...
- Pupillographic findings in 39 consecutive cases of harlequin syndromeFion Bremner
Department of Neuro Ophthalmology, National Hospital for Neurology and Neurosurgery, London, United Kingdom
J Neuroophthalmol 28:171-7. 2008..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...
- Harlequin syndrome in two athletesK E Fallon
Australian Institute of Sport, Belconnen, ACT, Australia
Br J Sports Med 39:e1. 2005..This condition is most likely to be first noticed in sporting situations...
- Hypohidrotic ectodermal dysplasia (HED)Bilal Ahmed
Department of Prosthodontics, de Montmorency Institute of Dental Sciences, Lahore, Pakistan
J Coll Physicians Surg Pak 16:61-3. 2006..It is characterized by lack of sweat glands (hypohidrosis), nail dystrophy(onychodysplasia), alopecia (hypotrichosis), defective palms and soles (palmoplantar ..
- Unilateral loss of facial flushing and sweating with contralateral anhidrosis: harlequin syndrome or Adie's syndrome?D Caparros-Lefebvre
Department of Neurology, CHRU Lille
Clin Auton Res 3:239-41. 1993..The topography of the sweating disorder suggested that the lesion involved the sympathetic pathways at the level of spinal cord. The relationship with the harlequin syndrome and related disorders is discussed...
- A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR geneYutaka Shimomura
Department of Dermatology, Niigata University School of Medicine, Niigata, Japan
J Invest Dermatol 123:649-55. 2004..Our findings indicate that both alleles of EDAR are non-functional in our patient, resulting in the HED phenotype...
- Early blistering, poikiloderma, hypohidrosis, alopecia and exocrine pancreatic hypofunction: a peculiar variant of Rothmund-Thomson syndrome?Utako Otsu
Department of Dermatology, Osaka Medical College, 2 7 Daigaku cho, Takatsuki City, Osaka 569 8686, Japan
Eur J Dermatol 18:632-4. 2008A 20-year-old male developed early blistering, poikiloderma, hypohidrosis, alopecia and exocrine pancreatic hypofunction caused by atrophy and fatty replacement of the pancreas...
- Drug-induced hyperhidrosis and hypohidrosis: incidence, prevention and managementWilliam P Cheshire
Department of Neurology, Autonomic Reflex Laboratory, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA
Drug Saf 31:109-26. 2008..Drugs that induce hypohidrosis, or deficient sweating, can increase the risk of heat exhaustion or heat stroke and include antimuscarinic ..
- Prevalence and prevention of severe complications of hypohidrotic ectodermal dysplasia in infancyGert Blüschke
Department of Pediatrics, Medical University of Innsbruck, Austria
Early Hum Dev 86:397-9. 2010..To re-evaluate the mortality of hypohidrotic ectodermal dysplasia (HED) and the prevalence of hyperpyrexia and possible neurological sequelae in affected infants...
- Hypohidrosis during topiramate treatment: a rare and reversible side effectCaterina Cerminara
Department of Neuroscience, Pediatric Neurology Unit, Tor Vergata University, Rome, Italy
Pediatr Neurol 34:392-4. 2006..Only few cases of hypohidrosis have been described...
- Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasiaM Naeem
Department of Biological Sciences, Quaid i Azam University, Islamabad 45320, Pakistan
Br J Dermatol 153:46-50. 2005..There are X-linked, autosomal recessive and autosomal dominant forms of this disorder. Mutations in the EDA gene cause X-linked HED and mutations in either the EDAR or the EDARADD genes cause autosomal forms of HED...
- Idiopathic pure sudomotor failure: anhidrosis due to deficits in cholinergic transmissionY Nakazato
Department of Neurology, Saitama Medical School, 38 Morohongo, Moroyama, Iruma gun, Saitama, 350 0495, Japan
Neurology 63:1476-80. 2004..However, most AIGA cases comprise idiopathic pure sudomotor failure (IPSF), a distinct subgroup without sudomotor neuropathy or sweat gland failure...
- Hypohidrotic ectodermal dysplasia: prenatal diagnosis by three-dimensional ultrasonographyWaldo Sepulveda
Fetal Medicine Center, Department of Obstetrics and Gynecology, Clinica Las Condes, Santiago, Chile
J Ultrasound Med 22:731-5. 2003..ectodermal dysplasia because of the notable reduction of sweat gland function, is clinically characterized by hypohidrosis, hypotrichosis, and hypodontia...
- Prosthetic rehabilitation of a child affected from anhydrotic ectodermal dysplasia: a case reportLorenzo Lo Muzio
Faculty of Medicine at the University of Foggia
J Contemp Dent Pract 6:120-6. 2005..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...
- Rapp-Hodgkin syndrome: a review of the aspects of hair and hair colorSung Wook Park
Division of Dermatology, Vancouver General Hospital, Vancouver, Canada
J Am Acad Dermatol 53:729-35. 2005
- QSART in idiopathic pure sudomotor failureYoshihiko Nakazato
Dept of Neurology, Saitama Medical School, 38 Morohongo, Moroyama, Iruma gun, Saitama, Japan
Clin Auton Res 15:414-6. 2005..QSART responded promptly to treatment. Putative pathophysiological mechanisms are discussed...
- Reduced epidermal growth factor receptor expression in hypohidrotic ectodermal dysplasia and Tabby miceG A Vargas
Department of Biological Chemistry, University of California Medical School, Irvine, California 92715, USA
J Clin Invest 97:2426-32. 1996..Other aspects of the EGF signaling pathway, including EGF concentration in urine and plasma, were normal in both HED patients and Ta mice. We propose that a decreased expression of the EGFR plays a causal role in the HED/Ta phenotype...
- [Hypohidrotic ectodermal dysplasias]I Plottova-Puech
Service de Dermatologie, CHU, Hopital Nord, 42055 Saint Etienne Cedex 2, France
Ann Dermatol Venereol 129:1276-85. 2002..depending on the presence of the four main clinical disorders: trichodysplasia, onychodysplasia, hypodontia and hypohidrosis. We focus on the fundamental clinical features of the hypohidrotic ectodermal dysplasias and propose an ..
- Selective loss of cholinergic sudomotor fibers causes anhidrosis in Ross syndromeClaudia Sommer
Department of Neurology, University of Wurzburg, Wurzburg, Germany
Ann Neurol 52:247-50. 2002..These findings indicate a selective degenerative process of the cholinergic sudomotor neurons...
- [Hypohidrotic ectodermal dysplasia]S Campuzano Martín
Servicios de Pediatría, Hospital Universitario Central de Asturias, Oviedo, Espana
An Pediatr (Barc) 62:393-4. 2005
- Hypohidrotic ectodermal dysplasia: argument against an autosomal recessive form clinically indistinguishable from X-linked hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome)V P Sybert
Department of Pediatrics (Medical Genetics, University of Washington School of Medicine, Seattle
Pediatr Dermatol 6:76-81. 1989Hypohidrotic ectodermal dysplasia (HED) is a well-described, X-linked recessive disorder characterized by hypohidrosis, hypodontia, and hypotrichosis in males...
- Hypohidrotic ectodermal dysplasia: a review and case reportWilliam J Dunn
Wilford Hall Medical Center, Lackland Air Force Base, San Antonio, Texas, USA
Gen Dent 51:346-8. 2003..A case involving a 5-year-old girl with hypohidrotic ectodermal dysplasia is presented. A review of the disease and the treatment options for patients is discussed...
- Soft-tissue facial areas and volumes in individuals with ectodermal dysplasia: a three-dimensional non invasive assessmentVirgilio F Ferrario
Functional Anatomy Research Center, Laboratorio di Anatomia Funzionale dell Apparato Stomatognatico, Dipartimento di Anatomia Umana, Facoltà di Medicina e Chirurgia and Facoltà di Scienze Motorie, Universita degli Studi di Milano, Italy
Am J Med Genet A 126:253-60. 2004..The method allowed a simple, low cost, fast, and non invasive examination of the patients, and provided a quantitative assessment of the deviation from the norm...
- Idiopathic acquired generalized anhidrosis due to occlusion of proximal coiled ductsJ Ogino
Department of Dermatology, Sapporo Medical University School of Medicine, Chyuo ku, Minami 1, Nishi 16, Sapporo, Japan
Br J Dermatol 150:589-93. 2004..These findings suggested that the acquired generalized anhidrosis in this patient was caused by occlusion of the coiled ducts by a PAS-positive substance probably derived from dark cell granules...
- Alternative rehabilitation treatment for a patient with ectodermal dysplasiaDaniella Della Valle
Cidade Universitária Ilha do Governador, Rio de Janeiro, RJ, Brazil
J Clin Pediatr Dent 28:103-6. 2004..The main characteristics are dental anomalies, hypotrichosis and hypohidrosis. The oral rehabilitation of this patients is important for better social living, self esteem and oral function...
- Botulinum toxin type B blocks sudomotor function effectively: a 6 month follow upFrank Birklein
Neurologische Klinik, Johannes Gutenberg Universitat, Mainz, Germany
J Invest Dermatol 121:1312-6. 2003..Analysis by iodine-starch staining and QSART indicated that botulinum toxin type B suppresses sudomotor function effectively, in a concentration-dependent manner...
- Hypohidrotic ectodermal dysplasia of sisters in a familyS Ghosh
Indian Pediatr 41:1176-7. 2004
- Ectodermal dysplasia with total anodontia: rehabilitation of a seven year old childK Pannu
Medical College and Hospital, Chandigarh
J Indian Soc Pedod Prev Dent 20:114-7. 2002..The problems encountered on account of the age of the child, the absence of alveolar processes, the tooth size and acceptability of the dentures are discussed herein...
- A point mutation of the ED1 gene in a Japanese family with X-linked hypohidrotic ectodermal dysplasiaH Sekiguchi
Department of Paediatric Dentistry, Tokyo Dental College, Chiba, Japan
Int J Paediatr Dent 15:73-7. 2005..This mutation has not been reported previously. The amino acid substitution is predicted to disrupt the transmembrane domain, which strongly implies that this is the disease-causing mutation in the family...
- Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 geneI Dianzani
Department of Medical Sciences, Universita del Piemonte Orientale, Novara, Italy
J Med Genet 40:e133. 2003
- Hypohidrotic ectodermal dysplasia associated with squamous cell carcinoma of the tracheaS C A Winter
Department of Otolaryngology, Radcliffe Infirmary, Oxford, UK
J Laryngol Otol 116:742-3. 2002..We suggest a possible association between HED and carcinoma of the upper respiratory tract that has not previously been reported...
- A novel missense mutation (402C-->T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasiaJ M Hertz
Department of Clinical Genetics, Aarhus University Hospital, Denmark
Clin Genet 53:205-9. 1998Hypohidrotic ectodermal dysplasia (EDA), or Christ-Siemens-Touraine syndrome, is clinically characterized by hypohidrosis, hypoodontia and hypotrichosis. The X-linked form of the disease has been mapped to Xq12-q13...
- Three novel mutations of the EDA gene in Chinese patients with X-linked hypohidrotic ectodermal dysplasiaJ Zhao
Department of Medical Genetics and National Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
Br J Dermatol 158:614-7. 2008
- Segmental facial anhidrosis and tonic pupils with preserved deep tendon reflexes: a novel autonomic neuropathyFreny B Kalapesi
Department of Ophthalmology, Prince of Wales Clinical School, University of New South Wales, Sydney, Australia
J Neuroophthalmol 25:5-8. 2005..This previously undescribed variant adds further complexity to the spectrum of autonomic neuropathies...
- Ross syndrome associated with cytomegalovirus infectionYuriko Nagane
Department of Neurology, Hanamaki General Hospital, Kajoh chou 4 28, Hanamaki, Japan
Muscle Nerve 38:924-6. 2008..The CMV IgM antibody titer was also positive in the cerebrospinal fluid...
- Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implicationsB M Ferguson
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland 97201 3098, USA
J Med Genet 35:112-5. 1998..Linkage analysis, in informative situations, therefore remains the only practical diagnostic option available...
- Ectodermal dysplasia with alopecia, onychodysplasia, hypohidrosis, keratoderma, abnormal teeth and deafnessMaryam Akhyani
Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran
Indian J Dermatol Venereol Leprol 73:409-11. 2007..Here, we present a patient with ectodermal dysplasia with alopecia, dysplastic nails, hypohidrosis, sensorineural deafness, palmoplantar keratoderma, abnormal teeth and dry skin...
- Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutationsJordan S Orange
Division of Immunology, Children s Hospital and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115, USA
J Clin Invest 109:1501-9. 2002..These data suggest that NEMO participates in signaling pathways leading to NK cell cytotoxicity and that IL-2 can activate NF-kappaB and partially overcome the NK cell defect in patients with NEMO mutations...
- Conserved features and evolutionary shifts of the EDA signaling pathway involved in vertebrate skin appendage developmentSophie Pantalacci
Molecular Zoology Team, Institut de Génomique Fonctionnelle de Lyon, Universite de Lyon, Institut Fédératif Biosciences 128 Gerland Lyon Sud, CNRS, INRA, Universite Claude Bernard Lyon 1, 69364 Lyon Cedex 07, France
Mol Biol Evol 25:912-28. 2008....
- Equine sweating and anhidrosis Part 2: anhidrosisDavid McEwan Jenkinson
Institute of Biomedical and Life Sciences, West Medical Building, University of Glasgow, Glasgow G12 8QQ, UK
Vet Dermatol 18:2-11. 2007..There is a need for considerably more research on the secretory and transcriptional processes to document the changes arising within the glandular secretory mechanism as a prelude to development of a corrective treatment...
- EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish familiesLisbet K Lind
Department of Medical Biosciences, Medical and Clinical Genetics, Umea University, SE 901 85 Umea, Sweden
BMC Med Genet 7:80. 2006..Both autosomal dominant and autosomal recessive forms of HED have previously been linked to mutations in the ectodysplasin 1 anhidrotic receptor (EDAR) protein that plays an important role during embryogenesis...
- Different morphotypes of the tabby (EDA) dentition in the mouse mandible result from a defect in the mesio-distal segmentation of dental epitheliumR Peterkova
Institute of Experimental Medicine, Academy of Sciences CR, Prague, Czech Republic
Orthod Craniofac Res 5:215-26. 2002..The mouse Ta syndrome and its counterpart anhidrotic (hypohidrotic) ectodermal dysplasia (EDA) in human are characterized by absence or hypoplasia of sweat glands, hair and teeth...
- Different morphotypes of functional dentition in the lower molar region of tabby (EDA) miceP Kristenová
Institute of Experimental Medicine, Academy of Sciences CR, Prague, Czech Republic
Orthod Craniofac Res 5:205-14. 2002..The Ta syndome is homologous to the anhidrotic (hypohidrotic) ectodermal dysplasia (EDA) in human and includes severe developmental defects of teeth, hair and sweat glands...
- Clinical management of hypohidrotic ectodermal dysplasia with anodontia: case reportEkaterini Paschos
Department of Restorative Dentistry, Periodontology, and Pedodontics, Dental School of the University of Munich, Germany
J Clin Pediatr Dent 27:5-8. 2002..Complete dentures were provided to encourage a normal psychological development and to improve the function of the stomatognathic system...
- A child with hypohidrotic ectodermal dysplasia with features of a collodion membraneChad Thomas
Geisinger Medical Center, Danville, Pennsylvania, USA
Pediatr Dermatol 23:251-4. 2006..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...
- A preliminary study of the short circuit current (Isc) responses of sweat gland cells from normal and anhidrotic horses to purinergic and adrenergic agonistsDarius C S Wilson
School of Life Sciences, Glasgow Caledonian University, Glasgow, UK
Vet Dermatol 18:152-60. 2007..The trigger for these failures warrants further investigation...
- Equine sweating and anhidrosis Part 1--equine sweatingDavid McEwan Jenkinson
Institute of Biomedical and Life Sciences, West Medical Building, University of Glasgow, Glasgow G12 8QQ, UK
Vet Dermatol 17:361-92. 2006....
- An atypical variant of Fabry's disease in men with left ventricular hypertrophyS Nakao
First Department of Internal Medicine, Faculty of Medicine, Kagoshima University, Japan
N Engl J Med 333:288-93. 1995..Therefore, we assessed the incidence of hemizygosity for Fabry's disease among male patients with left ventricular hypertrophy...
- Alterations in the incisor development in the Tabby mouseS Miard
INSERM U424, Institut de Biologie Medicale, Faculte de Medecine, Strasbourg, France
Int J Dev Biol 43:517-29. 1999..As in humans with HED, Ta mice exhibit hypohidrosis, characteristic defects of hairs and tooth abnormalities...
- [Fabry disease in light of recent review]Eiichiro Uyama
Department of Neurology, Kumamoto Takumadai Hospital, 1 14 27 Onoue, Kumamotoshi, Kumamoto 862 0913, Japan
Brain Nerve 60:1235-44. 2008..male patients exhibit classic phenotypes such as angiokeratoma, acroparesthesias, episodic pain "crises," hypohidrosis, and whorl-shaped corneal opacities from childhood...
- [A case of hereditary sensory and autonomic neuropathy type IV diagnosed following the development of acute encephalopathy due to heat stroke]T Juri
Department of Pediatrics, Kainan City Hospital, Wakayama
No To Hattatsu 29:254-60. 1997A fourteen-month-old girl, who had shown remittent fever frequently from the neonatal period, hypohidrosis, frequent change of face color and self-mutilation of the 1st and 2nd fingers of both hands and tongue in the first months of her ..
- Fabry disease: renal biopsy-proven cases from ChinaS H Zhang
Research Institute of Nephrology, Jinling Hospital, Nanjing University School of Medicine, Nanjing, People s Republic of China
J Nephrol 20:716-26. 2007..Renal involvement is the major cause of morbidity and mortality in male patients. Here, we describe the largest series ever reported for this condition in China...
- [Anhidrotic/hypohidrotic ectodermal dysplasia: ten cases]Nadia Ezzine Sebai
Service Dermatologie, Hopital Charles Nicolle, Tunis, Tunisie
Tunis Med 87:805-9. 2009Ectodermal dysplasias are rare hereditary diseases characterised by congenital absence of ectodermally derived structures and classified according to four symptoms: trichodysplasia, hypodontia, onychodysplasia and hypohidrosis.
- A missense mutation, A156T, in the alpha-galactosidase A gene causes typical Fabry diseaseT Konoshita
Third Department of Internal Medicine, Fukui Medical University, Japan
Clin Nephrol 55:243-7. 2001..We report here a missense mutation, which causes a typical form of Fabry disease...
- [Craniofacial hyperhidrosis treated by video-assisted thoracoscopic sympathectomy]Jun Wang
Department of Thoracic Surgery, Center of Thoracic Mini invasive Surgery, Peking University People s Hospital, Beijing 100044, China
Zhonghua Wai Ke Za Zhi 43:631-4. 2005..To investigate the feasibility, safety and prospect application value of video-assisted thoracoscopic sympathectomy utilized in the treatment of craniofacial hyperhidrosis...
- Clinical spectrum of Anderson Fabry disease in a Romanian familyAura Tudor
C F 2 Hospital, Bucharest, Romania
Rom J Intern Med 44:201-10. 2006..episodic "Fabry crisis" of acute pain lasting hours to days, characteristic skin lesions (angiokeratomas), hypohidrosis, heat and cold intolerance...
- Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processingThomas Alef
Division of Dermatogenetics, Cologne Center for Genomics, University of Cologne, Cologne, Germany
J Invest Dermatol 129:862-9. 2009..ichthyosis, patchy follicular atrophoderma, generalized and diffuse nonscarring hypotrichosis, marked hypohidrosis, and woolly hair (OMIM 602400)...
- [Results of high bilateral endoscopic thoracic sympathectomy and sympatholysis in the treatment of primary hyperhidrosis: a study of 1016 procedures]J Moya
Servicio de Cirugía Torácica, Hospital Universitari de Bellvitge, L Hospitalet de Llobregat, Barcelona, Espana
Arch Bronconeumol 42:230-4. 2006..Thoracic sympatholysis and sympathectomy are the current standard treatments for primary hyperhidrosis. In this study, we evaluated the incidence of peri- and postoperative complications associated with these procedures...
- Fabry disease: enzyme replacement therapyM R Bongiorno
Department of Dermatology, University of Palermo, Via del Vespro 131, 90123 Palermo, Italy
J Eur Acad Dermatol Venereol 17:676-9. 2003..Outcome measures include neurological manifestations (acroparaesthesia, hypohidrosis, vasomotion), kidney function, cardiac manifestations, angiokeratomas, and corneal dystrophy...
- X-linked ectodermal dysplasia with immunodeficiency caused by NEMO mutation: early recognition and diagnosisAnthony J Mancini
Division of Dermatology, Children s Memorial Hospital, 2300 Children s Plaza No 107, Chicago, IL 60614, USA
Arch Dermatol 144:342-6. 2008..Features include hypohidrosis, dental anomalies, alopecia, and immunodeficiency...
- Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular diseaseC Auray Blais
Service of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, , 3001, 12th Avenue North, Sherbrooke, QC, Canada, J1H 5N4
J Inherit Metab Dis 32:303-8. 2009..Other clinical features of the disease are often absent (angiokeratoma), subtle (corneal opacities and hypohidrosis), or unaccompanied by specific physical findings (acroparaesthesias) indicating the true nature of the ..
- Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USAS Farasat
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, 6120 Executive Boulevard, Rockville, MD 20892 4562, USA
J Med Genet 46:103-11. 2009..Mutations in the transglutaminase-1 (TGM1) gene, which encodes for the epidermal enzyme transglutaminase-1 (TGase-1), are one of the causes of ARCI...
- ADULT syndrome allelic to limb mammary syndrome (LMS)?P Propping
Institute of Human Genetics, University of Bonn, Bonn, Germany
Am J Med Genet 90:179-82. 2000..of mammary glands and nipples, ectrodactyly, other hand/foot anomalies, lacrimal-duct atresia, nail dysplasia, hypohidrosis, cleft palate/bifid uvula, hypodontia was reported...
- Hyperhidrosis: a new and often early symptom in Fabry disease. International experience and data from the Fabry Outcome SurveyO Lidove
Department of Internal Medicine, Bichat Hospital, Paris, France
Int J Clin Pract 60:1053-9. 2006b>Hypohidrosis is a classic feature of Fabry disease; in contrast, hyperhidrosis has only been rarely described...
- Monitoring the 3-year efficacy of enzyme replacement therapy in fabry disease by repeated skin biopsiesBeth L Thurberg
Department of Pathology, Genzyme Corporation, Cambridge, Massachusetts 01701 9322, USA
J Invest Dermatol 122:900-8. 2004..The earliest clinical signs of Fabry disease often manifest as dermatologic disturbances such as angiokeratomata, hypohidrosis, acroparesthesias, and impaired thermal and vibration detection...
- Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry diseaseRaphael Schiffmann
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke National Institutes of Health, Building 10, Room 3D03, 9000 Rockville Pike, Bethesda, MD 20892 1260, USA
Muscle Nerve 28:703-10. 2003..Clinical manifestations include a small-fiber neuropathy associated with debilitating pain and hypohidrosis. We report the effect of a 3-year open-label extension of a previously reported 6-month placebo-controlled ..
- Thermoregulatory sweat testing in patients with erythromelalgiaMark D P Davis
Department of Dermatology, Mayo Clinic, Rochester, MN 55905, USA
Arch Dermatol 142:1583-8. 2006..To examine the results of thermoregulatory sweat testing in patients with erythromelalgia and to compare them with the results of other neurophysiologic tests of small-fiber nerve function...
- Significance of screening for Fabry disease among male dialysis patientsMayuri Ichinose
Division of Kidney and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, 3 25 8 Nishishinbashi, Minato ku, Tokyo, 105 8461, Japan
Clin Exp Nephrol 9:228-32. 2005..In this study, we clarified the incidence of this atypical variant of Fabry disease in hemodialysis patients...
- The early clinical phenotype of Fabry disease: a study on 35 European children and adolescentsMarkus Ries
Centre for Lysosomal Storage Disorders, Children s Hospital, Johannes Gutenberg University, 55101 Mainz, Germany
Eur J Pediatr 162:767-72. 2003..6 years) in 25 families. Predominant signs in this cohort were: acroparesthesia, hypohidrosis, and cornea verticillata...
- Two novel mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia- Gunadi
Department of Genetic Epidemiology, Kobe University Graduate School of Medicine, Kobe 650 0017, Japan
Pediatr Res 65:453-7. 2009X-linked hypohidrotic ectodermal dysplasia (XLHED), which is characterized by hypodontia, hypotrichosis, and hypohidrosis, is caused by mutations in ED1, the gene encoding ectodysplasin-A (EDA)...
- Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genesEli Sprecher
Department of Dermatology and Cutaneous Biology and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
J Invest Dermatol 119:692-8. 2002..dysplasias characterized by the absence of dermatoglyphics, reticulate hyper pigmentation of the skin, hypohidrosis, and heat intolerance...
- Clinical presentation of cutaneous manifestations in complex regional pain syndrome (type 1)Basak Kandi
Department of Physical Medicine and Rehabilitation, Firat University Faculty of Medicine, Elazig 23119, Turkey
Skinmed 6:118-21. 2007..The aim of this study was to evaluate the cutaneous findings in patients with CRPS I...
- Agalsidase alfa--a preparation for enzyme replacement therapy in Anderson-Fabry diseaseMichael Beck
Children s Hospital, University of Mainz, Langenbeckstrasse 1, 55101 Mainz, Germany
Expert Opin Investig Drugs 11:851-8. 2002..Crises of severe pain in the extremities (acroparesthesias), hypohidrosis, corneal opacities and dysfunction of several organs (kidney, brain, heart) are the leading symptoms in ..
- Pleomorphic ichthyosis: proposed name for a heterogeneous group of congenital ichthyoses with phenotypic shifting and mild residual scalingAnders Vahlquist
Department of Medical Sciences Dermatology, Uppsala University, Uppasala, Sweden
Acta Derm Venereol 90:454-60. 2010..minority of cases the skin condition will improve spontaneously after birth, although slight scaling, xerosis, hypohidrosis and keratoderma usually persist...
- Respective potencies of Botox and Dysport in a human skin model: a randomized, double-blind studyGottfried Kranz
Department of Neurology, Medical University of Vienna, Wien, Austria
Mov Disord 24:231-6. 2009..showed a linear dose and dilution relationship with similar variances of responses for anhidrosis and hypohidrosis, indicating the same reliability of response. The dose equivalence conversion ratios (BOT: DYS) were 1:1...
- Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosisKathrin Huehne
University Hospital Erlangen, Institute of Human Genetics, Erlangen, Germany
Neuromuscul Disord 18:159-66. 2008..We investigated NTRK1 mutations in five HSAN IV patients and one less typical patient with hypohidrosis, insensitivity to pain as well as motor- and sensory deficits in the peripheral nervous system...
- Misdiagnosis in Fabry diseaseCintia L Marchesoni
Neurology Department, Hospital Britanico de Buenos Aires, Buenos Aires, Argentina
J Pediatr 156:828-31. 2010..To evaluate the most frequent diagnostic errors in patients with Fabry disease and the types of specialists most often consulted before diagnosis...
- Treatment with removable prosthesis in hypohidrotic ectodermal dysplasia. A clinical caseAdolfo Pipa Vallejo
School of Dentistry, University of Oviedo, Spain pipaadolfo uniovi es
Med Oral Patol Oral Cir Bucal 13:E119-23. 2008..syndrome, characterized by hypotrichosis (hair is sparse, fine and weak; anomalies in the skin and nails), hypohidrosis (due to the paucity of sweat glands which in turn gives rise to sweat disorders) and hypodontia (partial, and ..
- Chronic paroxysmal hemicrania: from the index patient to the diseaseOttar Sjaastad
Department of Neurology, Trondheim, Norway
Curr Pain Headache Rep 10:295-301. 2006..In cluster headache, there is a relative hypohidrosis in the forehead on the symptomatic side if body temperature is increased, and a clear hyperhidrosis on direct ..
- Topiramate reduced sweat secretion and aquaporin-5 expression in sweat glands of miceLei Ma
Department of Neurology, Xijing Hospital, Fourth Military Medical University, Xi an, China
Life Sci 80:2461-8. 2007..These results suggest dysregulation of AQP5 may be involved in topiramate-induced hypohidrosis and topiramate may serve as a novel therapy for hyperhidrosis.
- [Fabry's disease: diagnosis in the pediatric age group]G Pintos Morell
Unidad de Nefrología y Metabolismo Pediátricos Servicio de Pediatría Hospital Universitario Germans Trías i Pujol Universidad Autónoma de Barcelona España
An Esp Pediatr 57:45-50. 2002..Thus, the aim of this review is to draw pediatricians' attention to the manifestations of Fabry's disease in infancy and childhood, especially now that enzymatic replacement therapy with proven efficacy is available...
- Fabry disease during childhood: clinical manifestations and treatment with agalsidase alfaUma Ramaswami
Paediatric Metabolic Unit, Addenbrooke s Hospital, Cambridge, UK
Acta Paediatr Suppl 97:38-40. 2008..Studies show that clinical manifestations such as pain, hypohidrosis, gastrointestinal disturbances, angiokeratomas, cornea verticillata and acroparaesthesiae may be common in ..
- Cardiopulmonary exercise testing in Fabry diseaseGregory Bierer
Division of Pulmonary Critical Care Medicine, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
Respiration 72:504-11. 2005..Early manifestations include angiokeratomas, acroparesthesias, and hypohidrosis and may progress to renal failure, cardiac dysfunction, and stroke...
- Absence of cornea verticillata in hemizygotes of a novel mutation in fabry diseaseValentin Huerva
Department of Ophthalmology, University Hospital Arnau de Vilanova, Lleida, Spain
Cornea 27:970-2. 2008..To report a new pedigree of Fabry disease that does not display corneal involvement in hemizygotes...
- [KID syndrome: a cause of pachydermatoglyphia]O Boudghene Stambouli
Service de dermato vénéréologie, Centre Hospitalo Universitaire Dr T Damerdji, Tlemcen, Algerie
Ann Dermatol Venereol 130:1143-5. 2003..Other disorders such as sensitivity to infections or hypohidrosis may be associated...
- Pathophysiology and assessment of neuropathic pain in Fabry diseaseR Schiffmann
Developmental and Metabolic Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 1260, USA
Acta Paediatr Suppl 91:48-52. 2002Severe neuropathic pain and hypohidrosis are important symptoms of Fabry disease, particularly in the first three decades of life...
- Sjögren's syndrome plasma cell panniculitis and hidradenitisT W McGovern
Dermatology Service, Fitzsimons Army Medical Center, Aurora, CO 80045, USA
J Cutan Pathol 23:170-4. 1996..demonstrated intense perieccrine plasma cell infiltrates that may account for Sjögren's syndrome-associated hypohidrosis. We also observed occasional vascular occlusion of vessels with an amorphous, eosinophilic material possibly ..
- [Fabry disease: demographic data since introduction of enzyme replacement therapy]M Cybulla
Medizinische Klinik, Abteilung für Nephrologie, Albert Ludwigs Universitat, Freiburg, Germany
Dtsch Med Wochenschr 132:1505-9. 2007..Since 2001, enzyme replacement has become available as an option in the causal treatment. It was the aim of this study to analyse the demography and clinical expression of the disease...
- Is pruritus in chronic uremic patients related to peripheral somatic and autonomic neuropathy? Study by R-R interval variation test (RRIV) and by sympathetic skin response (SSR)B Zakrzewska-Pniewska
Department of Neurology, Medical University of Warsaw, Banacha 1a, Str, 02097 Warsaw, Poland
Neurophysiol Clin 31:181-93. 2001..01) in patients with paresthesia. A nonsignificant but sizeable trend towards a relationship of pruritus with hypohidrosis and pathological SSR results was also observed...
- Contribution of clinical screening to carrier detection in a large Chinese family with Fabry disease due to a novel alpha-galactosidase A gene deletionL S Ro
Department of Neurology, Chang Gung Memorial Hospital and University, Taipei, Taiwan
Eur J Neurol 14:493-7. 2007..Male patients demonstrated significantly higher pain scores, poorer renal function, and higher frequency of hypohidrosis and corpora angiokeratomas than female patients...
- [Peripheral neuropathy in Anderson-Fabry disease: its physiology, evaluation and treatment]J M Politei
Servicio de Neurologia, Hospital General de Agudos Juan A Fernández, Buenos Aires, Argentina
Rev Neurol 38:979-83. 2004..The purpose of this study was to review the peripheral neurological aspects of Anderson-Fabry disease (AFD)...
- Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasiaAnnemarie H van der Hout
Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands
Eur J Hum Genet 16:673-9. 2008..The teeth of these patients were quite severely affected. Hypohidrosis and sparse hair were also evident, but less severe...