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Autosomal dominant hypohidrotic ectodermal dysplasia in a large family.
Am J Med Genet. 1997 Nov 12; 72(4):462-7.AJ

Abstract

We have studied an autosomal dominant hypohidrotic ectodermal dysplasia in 38 individuals over six generations in one family. Thirty-two affected individuals in four generations are still living. Questionnaire responses were received from 21 of the affected relatives and some of the individuals were examined by one of the authors. Smooth, dry, thin skin is seen in most affected individuals. Nearly all have fine, slow-growing scalp and body hair and all have sparse eyebrows and short eyelashes. Nearly all show a decrease in sweating, with some only sweating under the arms and/or on the palms and soles. All affected individuals lacked some deciduous teeth and some permanent teeth. Some teeth are abnormally shaped. Nail abnormalities are more variable and may occur more frequently with increasing age. No other abnormalities are seen in affected individuals in this family. We reviewed 40 autosomal dominant ectodermal dysplasia syndromes. This family bears some resemblance to a family described by Jorgensen et al. [1987]; however, it appears to represent a disorder that has not been described previously.

Authors+Show Affiliations

Gunderson Medical Foundation, La Crosse, Wisconsin, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

9375732

Citation

Aswegan, A L., et al. "Autosomal Dominant Hypohidrotic Ectodermal Dysplasia in a Large Family." American Journal of Medical Genetics, vol. 72, no. 4, 1997, pp. 462-7.
Aswegan AL, Josephson KD, Mowbray R, et al. Autosomal dominant hypohidrotic ectodermal dysplasia in a large family. Am J Med Genet. 1997;72(4):462-7.
Aswegan, A. L., Josephson, K. D., Mowbray, R., Pauli, R. M., Spritz, R. A., & Williams, M. S. (1997). Autosomal dominant hypohidrotic ectodermal dysplasia in a large family. American Journal of Medical Genetics, 72(4), 462-7.
Aswegan AL, et al. Autosomal Dominant Hypohidrotic Ectodermal Dysplasia in a Large Family. Am J Med Genet. 1997 Nov 12;72(4):462-7. PubMed PMID: 9375732.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Autosomal dominant hypohidrotic ectodermal dysplasia in a large family. AU - Aswegan,A L, AU - Josephson,K D, AU - Mowbray,R, AU - Pauli,R M, AU - Spritz,R A, AU - Williams,M S, PY - 1997/12/31/pubmed PY - 2000/6/20/medline PY - 1997/12/31/entrez SP - 462 EP - 7 JF - American journal of medical genetics JO - Am J Med Genet VL - 72 IS - 4 N2 - We have studied an autosomal dominant hypohidrotic ectodermal dysplasia in 38 individuals over six generations in one family. Thirty-two affected individuals in four generations are still living. Questionnaire responses were received from 21 of the affected relatives and some of the individuals were examined by one of the authors. Smooth, dry, thin skin is seen in most affected individuals. Nearly all have fine, slow-growing scalp and body hair and all have sparse eyebrows and short eyelashes. Nearly all show a decrease in sweating, with some only sweating under the arms and/or on the palms and soles. All affected individuals lacked some deciduous teeth and some permanent teeth. Some teeth are abnormally shaped. Nail abnormalities are more variable and may occur more frequently with increasing age. No other abnormalities are seen in affected individuals in this family. We reviewed 40 autosomal dominant ectodermal dysplasia syndromes. This family bears some resemblance to a family described by Jorgensen et al. [1987]; however, it appears to represent a disorder that has not been described previously. SN - 0148-7299 UR - https://wwww.unboundmedicine.com/medline/citation/9375732/Autosomal_dominant_hypohidrotic_ectodermal_dysplasia_in_a_large_family_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1997&volume=72&issue=4&spage=462 DB - PRIME DP - Unbound Medicine ER -