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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.

Authors+Show Affiliations

Carvalho CA
Serviço de Dermatologia, Complexo Hospitalar Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, RS, Brasil. cac1305@yahoo.com.br
Carvalho AV
No affiliation info available
Kiss A
No affiliation info available
Paskulin G
No affiliation info available
Götze FM
No affiliation info available

MeSH

Abnormalities, MultipleChromosome DeletionChromosome DisordersChromosomes, Human, Pair 18Darier DiseaseEyebrowsFemaleHumansKeratosisYoung Adult

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 -