Ceratose pilar e ulerythema ophryogenes em mulher com monossomia do braço curto do cromosomo 18

Carvalho, Charles André; Carvalho, André Vicente Esteves de; Kiss, Andrea; Paskulin, Giorgio Adriano; Götze, Fernanda Mendes

doi:10.1590/s0365-05962011000700010

Cited by 8 publications

(2 citation statements)

References 3 publications

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“…Nevertheless, this chromosomal region may have some genes that regulate follicular keratinization, and these genes may play a role in the pathophysiology and in the genetic susceptibility for the development of acne and KP. 10,11 …”

Section: Discussionmentioning

confidence: 99%

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Keratosis pilaris and prevalence of acne vulgaris: a cross-sectional study

Schmitt

Lima

Souza

et al. 2014

An. Bras. Dermatol.

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BACKGROUNDAcne vulgaris has an important genetic predisposition, as well as keratosis pilaris. Clinical observations suggest that patients with keratosis pilaris have less frequent or less severe acne breakouts; however, we found no studies on this regardOBJECTIVETo determine if the presence of keratosis pilaris is associated with lower prevalence and severity of acne.METHODSA cross-sectional study was conducted with dermatology outpatients aged between 14 and 35 years. We evaluated history and clinical grade of acne, demographic variables, history of atopy, smoking, and use of hormonal contraceptives. Two groups were defined by the presence or absence of moderate to severe keratosis pilaris on the arms and were compared by bivariate analysis and by conditional multiple logistic regression.RESULTSWe included 158 patients (66% women), with a median age of 23±11 years. Twenty-six percent of them had keratosis pilaris, which was associated with a history of atopy (odds ratio [OR]=2.80 [1.36 to 5.75]; p<0.01). Acne was present in 66% of subjects, and was related to family history of acne (OR=5.75 [2.47 to 13.37]; p<0.01). In bivariate and multivariate analysis, the group with keratosis pilaris had a less frequent history of acne (OR=0.32 [0.14 to 0.70]; p<0.01).CONCLUSIONThe presence of moderate to severe keratosis pilaris on the arms was associated with lower prevalence of acne vulgaris and lower severity of facial lesions in adolescents and young adults.

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Section: Discussionmentioning

confidence: 99%

“…Similarly to acne, KP has a family tendency, and there have been reports of genetic syndromes, such as chromosome 18p deletion, which may manifest as prominent and extensive KP. 7-10 …”

Section: Introductionmentioning

confidence: 99%

Keratosis pilaris and prevalence of acne vulgaris: a cross-sectional study

Schmitt

Lima

Souza

et al. 2014

An. Bras. Dermatol.

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Clinical characteristics in patients with interstitial deletions of chromosome region 12q21–q22 and identification of a critical region associated with keratosis pilaris

Al‐Maawali

Marshall

Scherer

et al. 2013

American J of Med Genetics Pt A

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We report on a male patient with a submicroscopic 1.21 Mb de novo deletion at 12q21.33-q22 with global developmental delay, characteristic facial features, and keratosis pilaris. Thus far, five other cases with a 12q de novo deletion including this segment have been reported; our case represents the smallest de novo deletion within this chromosome region. High resolution SNP microarray analysis showed a deletion of RefSeq genes BTG1 and LOC256021, and partial deletion of DCN. We propose that BTG1 is a critical gene for the development of the distinctive keratosis pilaris observed in patients with interstitial deletion of 12q21-q22, and suggest candidate genes that may contribute to dysmorphic features and global developmental delay.

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A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability

Кашеварова

Назаренко

Skryabin

et al. 2018

American J of Med Genetics Pt A

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The application of array‐based comparative genomic hybridization and next‐generation sequencing has identified many chromosomal microdeletions and microduplications in patients with different pathological phenotypes. Different copy number variations are described within the short arm of chromosome 18 in patients with skin diseases. In particular, full or partial monosomy 18p has also been associated with keratosis pilaris. Here, for the first time, we report a young male patient with intellectual disability, diabetes mellitus (type I), and keratosis pilaris, who exhibited a de novo 45‐kb microduplication of exons 4–22 of LAMA1, located at 18p11.31, and a 432‐kb 18p11.32 microduplication of paternal origin containing the genes METTL4, NDC80, and CBX3P2 and exons 1–15 of the SMCHD1 gene. The microduplication of LAMA1 was identified in skin fibroblasts but not in lymphocytes, whereas the larger microduplication was present in both tissues. We propose LAMA1 as a novel candidate gene for keratosis pilaris. Although inherited from a healthy father, the 18p11.32 microduplication, which included relevant genes, could also contribute to phenotype manifestation.

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Ceratose pilar e ulerythema ophryogenes em mulher com monossomia do braço curto do cromosomo 18

Cited by 8 publications

References 3 publications

Keratosis pilaris and prevalence of acne vulgaris: a cross-sectional study

Keratosis pilaris and prevalence of acne vulgaris: a cross-sectional study

Clinical characteristics in patients with interstitial deletions of chromosome region 12q21–q22 and identification of a critical region associated with keratosis pilaris

A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability

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