Hair and sweat glands in families with hypohidrotic ectodermal dysplasia: Further characterization

Archives of Dermatology

Volumn 140, Issue 7, 2004, Pages 850-855

  Rouse, Christopher ^a   Siegfried, Elaine ^a,b   Breer, Wayne ^a   Nahass, George ^a  

^a SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Central Dermatology   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CELL STRUCTURE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC VALUE; FAMILY STUDY; FEMALE; FUNCTION TEST; HAIR ANALYSIS; HISTOPATHOLOGY; HUMAN; HYPOHIDROTIC ECTODERMAL DYSPLASIA; MALE; PRIORITY JOURNAL; QUESTIONNAIRE; SKIN BIOPSY; STARCH IODIDE SWEAT FUNCTION TEST; SWEAT GLAND; TRICHORRHEXIS; VALIDATION PROCESS;

BIOPSY; CASE-CONTROL STUDIES; ECTODERMAL DYSPLASIA; FAMILY; FEMALE; HAIR FOLLICLE; HAND; HUMANS; MALE; PREDICTIVE VALUE OF TESTS; SCALP; SENSITIVITY AND SPECIFICITY; SINGLE-BLIND METHOD; SWEAT GLANDS;

EID: 3142683966     PISSN: 0003987X     EISSN: None     Source Type: Journal    
DOI: 10.1001/archderm.140.7.850     Document Type: Article

References (11)

1. Cambiaghi S, Restano L, Paakkonen K, Caputo R, Kere J. Clinical findings in mosaic carriers of hypohidrotic ectodermal dysplasia. Arch Dermatol. 2000;136: 217-224.
2. Clarke A, Phillips DI, Brown R, Harper PS. Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. Arch Dis Child. 1987;62:989-996.
3. Clark RP, Goff MR, MacDermot KD. Identification of functioning sweat pores and visualization of skin temperature patterns in X-linked hypohidrotic ectodermal dysplasia by whole body thermography. Hum Genet. 1990;86:7-13.
4. Francis JS. Ectodermal dysplasias. In: Harper J, Oranje A, Prose N, eds. Textbook of Pediatric Dermatology. London, England: Blackwell Science; 2000:1163-1187.
5. Ferguson BM, Thomas NST, Munoz F, Morgan D, Clarke A, Zonana J. Scarcity of mutations detected in families with X-linked hypohidrotic ectodermal dysplasia (EDA): diagnostic implications. J Med Genet. 1998;35:112-115.
6. Kere J, Srivastava AK, Montonen O, et al. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet. 1996;13:409-416.
7. Montonen O, Ezer S, Saarialho-Kere U, et al. The gene detective in anhidrotic ectodermal dysplasia is expressed in the developing epithelium, neuroectoderm, thymus and bone. J Histochem Cytochem. 1998;46:281-289.
8. Elomaa O, Pulkkinen K, Hannelius U, Mikkola M, Saarialho-Kere U, Kere J. Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein. Hum Mol Genet. 2001;10:953-962.
9. Zonana J, Elder ME, Schneider LC, et al. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Am J Hum Genet. 2000;67: 1555-1562.
10. Smith SP III, Siegle RJ, Abbott C, Bennett RG. Surgical pearl: the self-removable suture. J Am Acad Dermatol. 1997;36:1009-1010.
11. Chen Y, Molloy SS, Thomas L, et al. Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia. Proc Natl Acad Sci U S A. 2001;98:7218-7223.