Tags

Type your tag names separated by a space and hit enter

A previously undescribed ectodermal dysplasia of the tricho-odonto-onychial subgroup in a family.
Arch Dermatol. 1986 Sep; 122(9):1047-53.AD

Abstract

We encountered two family members with a previously undescribed pure ectodermal dysplasia. The propositus exhibited hypotrichosis, hypodontia, focal linear dermal hypoplasia on the tip of her nose, irregular hyperpigmentation on her back, bilateral amastia and athelia, and mild nerve hearing loss. Her mother displayed similar characteristics, except for present, although hypoplastic, areolae and nipples. Both mother and daughter appeared to be clinically euhidrotic. Despite a comprehensive endocrine workup, the only abnormality detected was a suboptimal cortisol response to hypoglycemia in the propositus. Five other family members seemed to be affected. The pattern of inheritance appeared to be autosomal-dominant, with variable penetrance and expressivity.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

3740884

Citation

Tsakalakos, N, et al. "A Previously Undescribed Ectodermal Dysplasia of the Tricho-odonto-onychial Subgroup in a Family." Archives of Dermatology, vol. 122, no. 9, 1986, pp. 1047-53.
Tsakalakos N, Jordaan FH, Taljaard JJ, et al. A previously undescribed ectodermal dysplasia of the tricho-odonto-onychial subgroup in a family. Arch Dermatol. 1986;122(9):1047-53.
Tsakalakos, N., Jordaan, F. H., Taljaard, J. J., & Hough, S. F. (1986). A previously undescribed ectodermal dysplasia of the tricho-odonto-onychial subgroup in a family. Archives of Dermatology, 122(9), 1047-53.
Tsakalakos N, et al. A Previously Undescribed Ectodermal Dysplasia of the Tricho-odonto-onychial Subgroup in a Family. Arch Dermatol. 1986;122(9):1047-53. PubMed PMID: 3740884.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A previously undescribed ectodermal dysplasia of the tricho-odonto-onychial subgroup in a family. AU - Tsakalakos,N, AU - Jordaan,F H, AU - Taljaard,J J, AU - Hough,S F, PY - 1986/9/1/pubmed PY - 1986/9/1/medline PY - 1986/9/1/entrez SP - 1047 EP - 53 JF - Archives of dermatology JO - Arch Dermatol VL - 122 IS - 9 N2 - We encountered two family members with a previously undescribed pure ectodermal dysplasia. The propositus exhibited hypotrichosis, hypodontia, focal linear dermal hypoplasia on the tip of her nose, irregular hyperpigmentation on her back, bilateral amastia and athelia, and mild nerve hearing loss. Her mother displayed similar characteristics, except for present, although hypoplastic, areolae and nipples. Both mother and daughter appeared to be clinically euhidrotic. Despite a comprehensive endocrine workup, the only abnormality detected was a suboptimal cortisol response to hypoglycemia in the propositus. Five other family members seemed to be affected. The pattern of inheritance appeared to be autosomal-dominant, with variable penetrance and expressivity. SN - 0003-987X UR - https://wwww.unboundmedicine.com/medline/citation/3740884/A_previously_undescribed_ectodermal_dysplasia_of_the_tricho_odonto_onychial_subgroup_in_a_family_ L2 - https://jamanetwork.com/journals/jamadermatology/fullarticle/vol/122/pg/1047 DB - PRIME DP - Unbound Medicine ER -