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Anhidrosis, familial generalized, with abnormal or absent sweat glands

MedGen UID:
895862
•Concept ID:
C4225670
•
Disease or Syndrome
Synonym: ANHIDROSIS, FAMILIAL GENERALIZED, WITH ABNORMAL OR ABSENT SWEAT GLANDS
 
Monarch Initiative: MONDO:0008794
OMIM®: 206600

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Multidisciplinary approach to screening and management of children with Fabry disease: practice at a Tertiary Children's Hospital in China.
Shen Q, Liu J, Chen J, Zhou S, Wang Y, Yu L, Sun L, Wang L, Wu B, Liu F, Cao Y, Huang Y, Wang J, Yang C, Zhu D, Ma Y, Xu Z, Lu W, Fu L, Zhou W, Xu H
Orphanet J Rare Dis 2021 Dec 14;16(1):509. doi: 10.1186/s13023-021-02136-1. PMID: 34906154Free PMC Article
Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia.
Schneider H, Hammersen J, Preisler-Adams S, Huttner K, Rascher W, Bohring A
J Med Genet 2011 Jun;48(6):426-32. Epub 2011 Feb 26 doi: 10.1136/jmg.2010.084012. PMID: 21357618

Recent clinical studies

Etiology

Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia.
Yapijakis C, Douka A, Gintoni I, Agiannitopoulos K, Vlachakis D, Chrousos GP
Adv Exp Med Biol 2023;1423:181-186. doi: 10.1007/978-3-031-31978-5_15. PMID: 37525042
How the sweat gland reveals levels of CFTR activity.
Wine JJ
J Cyst Fibros 2022 May;21(3):396-406. Epub 2022 Feb 17 doi: 10.1016/j.jcf.2022.02.001. PMID: 35184981
Sudomotor dysfunction in patients with gluten neuropathy.
Zis P, Shafique F, Sarrigiannis PG, Artemiadis A, Rao DG, Sanders DS, Hadjivassiliou M
Neurol Sci 2022 May;43(5):3381-3385. Epub 2021 Nov 17 doi: 10.1007/s10072-021-05751-9. PMID: 34791566Free PMC Article
Ectodermal dysplasias.
Itin PH, Fistarol SK
Am J Med Genet C Semin Med Genet 2004 Nov 15;131C(1):45-51. doi: 10.1002/ajmg.c.30033. PMID: 15468153
Lichen planopilaris.
Sehgal VN, Bajaj P
Int J Dermatol 2001 Aug;40(8):516-7. doi: 10.1046/j.1365-4362.2001.01065.x. PMID: 11703523

Diagnosis

An inherited disorder with splenomegaly, cytopenias, and vision loss.
Tantravahi SK, Williams LB, Digre KB, Creel DJ, Smock KJ, DeAngelis MM, Clayton FC, Vitale AT, Rodgers GM
Am J Med Genet A 2012 Mar;158A(3):475-81. Epub 2012 Feb 3 doi: 10.1002/ajmg.a.34437. PMID: 22307799Free PMC Article
Disorders of sweating.
Cheshire WP, Freeman R
Semin Neurol 2003 Dec;23(4):399-406. doi: 10.1055/s-2004-817724. PMID: 15088261
Familial mydriasis, cardiac arrhythmia, respiratory failure, muscular weakness and hypohidrosis.
Sjaastad O, Lindboe CF, Schaanning J, Brodtkorb E, Kearney M, Hovig T, Salvesen R, Haugnes T, Rokseth R, Smethurst HB, Sand T, Dale LG, Bathen J
Acta Neurol Scand Suppl 2000;174:3-31. doi: 10.1111/j.1600-0404.2000.tb05864.x. PMID: 11140938
Hypohidrotic ectodermal dysplasia.
Wang HC, Chen CC, Wang WJ, Ho WL
Zhonghua Yi Xue Za Zhi (Taipei) 2000 Mar;63(3):230-3. PMID: 10746420
Autosomal dominant ectodermal dysplasia.
Jorgenson RJ, Dowben JS, Dowben SL
J Craniofac Genet Dev Biol 1987;7(4):403-12. PMID: 3429615

Therapy

Sudomotor dysfunction in patients with gluten neuropathy.
Zis P, Shafique F, Sarrigiannis PG, Artemiadis A, Rao DG, Sanders DS, Hadjivassiliou M
Neurol Sci 2022 May;43(5):3381-3385. Epub 2021 Nov 17 doi: 10.1007/s10072-021-05751-9. PMID: 34791566Free PMC Article
Multidisciplinary approach to screening and management of children with Fabry disease: practice at a Tertiary Children's Hospital in China.
Shen Q, Liu J, Chen J, Zhou S, Wang Y, Yu L, Sun L, Wang L, Wu B, Liu F, Cao Y, Huang Y, Wang J, Yang C, Zhu D, Ma Y, Xu Z, Lu W, Fu L, Zhou W, Xu H
Orphanet J Rare Dis 2021 Dec 14;16(1):509. doi: 10.1186/s13023-021-02136-1. PMID: 34906154Free PMC Article
Anesthetic management of two siblings with congenital insensitivity to pain with anhidrosis syndrome.
Destegul D, Kocaöz F, Sarı AS
Agri 2019 Nov;31(4):202-205. doi: 10.14744/agri.2019.91297. PMID: 31741348
Disorders of sweating.
Cheshire WP, Freeman R
Semin Neurol 2003 Dec;23(4):399-406. doi: 10.1055/s-2004-817724. PMID: 15088261
Carcinoembryonic antigen and related glycoproteins in psoriasis.
Hagemeier HH, Bhardwaj R, Grunert F, Buchegger F, Goerdt S, von Kleist S, Sorg C
Pathobiology 1993;61(1):19-24. doi: 10.1159/000163755. PMID: 8216819

Prognosis

Diagnostic Accuracy of GATA6 Immunostaining in Sebaceous Tumors of the Skin.
Oulès B, Deschamps L, Sohier P, Tihy M, Chassac A, Couvelard A, Frouin E, Battistella M
Mod Pathol 2023 Apr;36(4):100101. Epub 2023 Jan 18 doi: 10.1016/j.modpat.2023.100101. PMID: 36788082
Beneficial screening of Fabry disease in patients with hypohidrosis.
Nagai-Sangawa M, Fukunaga A, Takeuchi C, Nishiyama S, Horikawa T, Nagano C, Nozu K, Fujii H, Nishigori C
J Dermatol 2022 Feb;49(2):308-312. Epub 2021 Nov 19 doi: 10.1111/1346-8138.16237. PMID: 34796992
Encapsulated papillary carcinoma, apocrine type, of the breast.
Kuroda N, Fujishima N, Hayes MM, Moritani S, Ichihara S
Malays J Pathol 2014 Aug;36(2):139-43. PMID: 25194537
Hair and sweat glands in families with hypohidrotic ectodermal dysplasia: further characterization.
Rouse C, Siegfried E, Breer W, Nahass G
Arch Dermatol 2004 Jul;140(7):850-5. doi: 10.1001/archderm.140.7.850. PMID: 15262696
Psychological aspects of hypohidrotic ectodermal dysplasia.
Tanner BA
Birth Defects Orig Artic Ser 1988;24(2):263-75. PMID: 3052620

Clinical prediction guides

Late-onset Rothmund-Thomson syndrome.
Kumar P, Sharma PK, Gautam RK, Jain RK, Kar HK
Int J Dermatol 2007 May;46(5):492-3. doi: 10.1111/j.1365-4632.2007.03248.x. PMID: 17472679
EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.
Lind LK, Stecksén-Blicks C, Lejon K, Schmitt-Egenolf M
BMC Med Genet 2006 Nov 24;7:80. doi: 10.1186/1471-2350-7-80. PMID: 17125505Free PMC Article
Hair and sweat glands in families with hypohidrotic ectodermal dysplasia: further characterization.
Rouse C, Siegfried E, Breer W, Nahass G
Arch Dermatol 2004 Jul;140(7):850-5. doi: 10.1001/archderm.140.7.850. PMID: 15262696
Identification of pituitary adenylate cyclase activating polypeptide (PACAP) and PACAP type 1 receptor in human skin: expression of PACAP-38 is increased in patients with psoriasis.
Steinhoff M, McGregor GP, Radleff-Schlimme A, Steinhoff A, Jarry H, Schmidt WE
Regul Pept 1999 Mar 17;80(1-2):49-55. doi: 10.1016/s0167-0115(99)00010-5. PMID: 10235634
Psychological aspects of hypohidrotic ectodermal dysplasia.
Tanner BA
Birth Defects Orig Artic Ser 1988;24(2):263-75. PMID: 3052620

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