Keratosis pilaris and ulerythema ophryogenes in a woman with monosomy of the short arm of chromosome 18.An Bras Dermatol. 2011 Jul-Aug; 86(4 Suppl 1):S42-5.AB
Abstract
Partial monosomy of the short arm of chromosome 18 (18p- syndrome) is characterized mainly by speech delay, mild to moderate mental retardation and short stature. We describe a patient with the 18p- syndrome and widespread severe keratosis pilaris and ulerythema ophryogenes. This is the fourth case in which such an association has been reported. This association is of considerable interest because it may uncover a candidate genomic region and help to identify the gene responsible for follicular keratinization.
MeSH
Pub Type(s)
Case Reports
Journal Article
Language
eng por
PubMed ID
22068768
Citation
Carvalho, Charles André, et al. "Keratosis Pilaris and Ulerythema Ophryogenes in a Woman With Monosomy of the Short Arm of Chromosome 18." Anais Brasileiros De Dermatologia, vol. 86, no. 4 Suppl 1, 2011, pp. S42-5.
Carvalho CA, Carvalho AV, Kiss A, et al. Keratosis pilaris and ulerythema ophryogenes in a woman with monosomy of the short arm of chromosome 18. An Bras Dermatol. 2011;86(4 Suppl 1):S42-5.
Carvalho, C. A., Carvalho, A. V., Kiss, A., Paskulin, G., & Götze, F. M. (2011). Keratosis pilaris and ulerythema ophryogenes in a woman with monosomy of the short arm of chromosome 18. Anais Brasileiros De Dermatologia, 86(4 Suppl 1), S42-5.
Carvalho CA, et al. Keratosis Pilaris and Ulerythema Ophryogenes in a Woman With Monosomy of the Short Arm of Chromosome 18. An Bras Dermatol. 2011 Jul-Aug;86(4 Suppl 1):S42-5. PubMed PMID: 22068768.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR
T1 - Keratosis pilaris and ulerythema ophryogenes in a woman with monosomy of the short arm of chromosome 18.
AU - Carvalho,Charles André,
AU - Carvalho,André Vicente Esteves de,
AU - Kiss,Andrea,
AU - Paskulin,Giorgio,
AU - Götze,Fernanda Mendes,
PY - 2010/10/25/received
PY - 2010/12/21/accepted
PY - 2011/11/10/entrez
PY - 2011/12/16/pubmed
PY - 2012/3/10/medline
SP - S42
EP - 5
JF - Anais brasileiros de dermatologia
JO - An Bras Dermatol
VL - 86
IS - 4 Suppl 1
N2 - Partial monosomy of the short arm of chromosome 18 (18p- syndrome) is characterized mainly by speech delay, mild to moderate mental retardation and short stature. We describe a patient with the 18p- syndrome and widespread severe keratosis pilaris and ulerythema ophryogenes. This is the fourth case in which such an association has been reported. This association is of considerable interest because it may uncover a candidate genomic region and help to identify the gene responsible for follicular keratinization.
SN - 1806-4841
UR - https://www.unboundmedicine.com/medline/citation/22068768/Keratosis_pilaris_and_ulerythema_ophryogenes_in_a_woman_with_monosomy_of_the_short_arm_of_chromosome_18_
L2 - http://www.diseaseinfosearch.org/result/1478
DB - PRIME
DP - Unbound Medicine
ER -