Clinical findings in mosaic carriers of hypohidrotic ectodermal dysplasia

Archives of Dermatology

Volumn 136, Issue 2, 2000, Pages 217-224

  Cambiaghi, Stefano ^a   Restano, Lucia ^a   Pääkkönen, Kati ^b   Caputo, Ruggero ^a   Kere, Juha ^b  

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITY OF HELSINKI   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE TRANSMISSION; HETEROZYGOTE DETECTION; HUMAN; HYPOHIDROTIC ECTODERMAL DYSPLASIA; PEDIGREE; PRIORITY JOURNAL; X CHROMOSOME RECESSIVE DISORDER;

EID: 0033952715     PISSN: 0003987X     EISSN: None     Source Type: Journal    
DOI: 10.1001/archderm.136.2.217     Document Type: Article

References (23)

1. Freire-Maia N, Pinheiro M. Ectodermal Dysplasias: A Clinical and Genetic Study. New York, NY: Alan R Liss Inc; 1984.
2. Reed WB, Lopez DA, Landing B. Clinical spectrum of anhidrotic ectodermal dysplasia. Arch Dermatol. 1970;102:134-143.
3. Munoz F, Lestringant G, Sybert V, et al. Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder. Am J Hum Genet. 1997;61:94-100.
4. 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.
5. Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nat Genet. 1999;22:366-369.
6. Wada M. Sudorific action of adrenalin on the human sweat glands and determination of their excitability. Science. 1950;111:376.
7. The Executive and Scientific Advisory Boards of the Mational Foundation for Ectodermal Dysplasias. Scaling skin in the neonate: a clue to the early diagnosis of X-linked hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome), J Pediatr. 1989;114:600-602.
8. Plantin P, Gavanou J, Jouan N, Leroy JP, Guillet G. Peau collodionnée: un aspect clinique méconnu mais fréquent des dysplasies ectodermiques anhidrotiques en périods néonatale. Ann Dermatol Venereol. 1992;119:821-823.
9. Limon J, Filipiuk J, Nedoszytko B, et al. X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female. Hum Genet 1991;87:338-340.
10. Sybert VP. 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.
11. Bartstra HLJ, Hulsmans RFHJ, Steijlen PM, Ruige M, de Die-Smulders CEM, Cassiman JJ. Mosaic expression of hypohidrotic ectodermal dysplasia in an isolated affected female child. Arch Dermatol. 1994;130:1421-1424.
12. Vabres P, Larrègue M.Génodermatoses liées àl'x. Ann Dermatol Venereol. 1995; 122:154-160.
13. Happle R. Mosaicism in human skin: understanding the patterns and mechanisms. Arch Dermatol. 1993;129:1460-1470.
14. Happle R, Frosch PJ. Manifestation of the lines of Blaschko in women heterozygous for X-linked hypohidrotic ectodermal dysplasia. Clin Genet. 1985;27:468-471.
15. Frias JL, Smith DW. Diminished sweat pores in hypohidrotic ectodermal dysplasia: a new method for assessment. J Pediatr. 1968;72:606-610.
16. Pinheiro M, Freire-Maia N, Christ-Siemens-Touraine syndrome: a clinical and genetic analysis of a large Brazilian kindred, III: carrier detection. Am J Med Genet. 1979;4:129-134.
17. Freire-Maia N, Pinheiro M. Carrier detection in Christ-Siemens-Touraine syndrome (X-linked hypohidrotic ectodermal dysplasia). Am J Hum Genet. 1982; 34:672-674.
18. Freire-Maia N, Pinheiro M. So-called "anhidrotic ectodermal dysplasia." Int J Dermatol. 1980;19:455-456.
19. Pinheiro M, Freire-Maia N. Christ-Siemens-Touraine syndrome: a clinical and genetic analysis of a large Brazilian kindred, I: affected females. Am J Med Genet. 1979;4:113-122.
20. Kerr CB, Wells RS, Cooper KE. Gene effect in carriers of anhidrotic ectodermal dysplasia. J Med Genet. 1966;3:169-176.
21. Verbov J. Hypohidrotic (or anhidrotic) ectodermal dysplasia: an appraisal of diagnostic methods. Br J Dermatol. 1970;83:341-348.
22. Clarke A, Phillips DIM, Brown R, Harper PS. Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. Arch Dis Child. 1987;62:989-996.
23. Nakata M, Koshiba H, Eto K, Nance WE. A genetic study of anodontia in X-linked hypohidrotic ectodermal dysplasia. Am J Hum Genet. 1980;32:908-919.