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Tytuł pozycji:

A case of hidradenitis suppurativa linked to trisomy 1q.

Tytuł :
A case of hidradenitis suppurativa linked to trisomy 1q.
Autorzy :
Skroza N; Dermatology Unit 'Daniele Innocenzi', Department of Medical-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Polo Pontino, Terracina, Italy.
Mambrin A; Dermatology Unit 'Daniele Innocenzi', Department of Medical-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Polo Pontino, Terracina, Italy.
Tolino E; Dermatology Unit 'Daniele Innocenzi', Department of Medical-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Polo Pontino, Terracina, Italy.
Bernardini N; Dermatology Unit 'Daniele Innocenzi', Department of Medical-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Polo Pontino, Terracina, Italy.
Proietti I; Dermatology Unit 'Daniele Innocenzi', Department of Medical-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Polo Pontino, Terracina, Italy.
Anzalone A; Dermatology Unit 'Daniele Innocenzi', Department of Medical-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Polo Pontino, Terracina, Italy.
Marchesiello A; Dermatology Unit 'Daniele Innocenzi', Department of Medical-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Polo Pontino, Terracina, Italy.
Porta N; Department of Medical-Surgical Sciences and Biotechnologies, Pathological Unit, Sapienza University of Rome, I.C.O.T. Hospital, Latina, Italy.
Petrozza V; Department of Medical-Surgical Sciences and Biotechnologies, Pathological Unit, Sapienza University of Rome, I.C.O.T. Hospital, Latina, Italy.
Potenza C; Dermatology Unit 'Daniele Innocenzi', Department of Medical-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Polo Pontino, Terracina, Italy.
Pokaż więcej
Źródło :
Journal of the European Academy of Dermatology and Venereology : JEADV [J Eur Acad Dermatol Venereol] 2019 Oct; Vol. 33 Suppl 6, pp. 32-33.
Typ publikacji :
Case Reports; Journal Article
Język :
English
Imprint Name(s) :
Publication: Oxford : Wiley-Blackwell
Original Publication: Amsterdam ; New York : Elsevier Science Publishers, c1992-
MeSH Terms :
Chromosomes, Human, Pair 1*
Trisomy*
Hidradenitis Suppurativa/*genetics
Abnormalities, Multiple/genetics ; Adult ; Chromosomes, Human, Pair 13 ; Female ; Humans
References :
Revuz JE, Canoui-Poitrine F, Wolkenstein P et al. Prevalence and factors associated with hidradenitis suppurativa: results from two case-control studies. J Am Acad Dermatol 2008; 59: 596-601.
Zouboulis CC, Desai N, Emtestam L et al. European S1 guideline for the treatment of hidradenitis suppurativa/acne inversa. J Eur Acad Dermatol Venereol 2015; 29: 619-644.
Jemec GB. Clinical practice. Hidradenitis suppurativa. N Engl J Med 2012; 366: 158-164.
Gasparic J, Theut Riis P, Jemec GB. Recognizing syndromic hidradenitis suppurativa: a review of the literature. J Eur Acad Dermatol Venereol 2017; 31: 1809-1816.
Scheuerle A, Heller K, Elder F. Complete trisomy 1q with mosaic Y;1 translocation: a recurrent aneuploidy presenting diagnostic dilemmas. Am J Med Genet A 2005; 138A: 166-170.
Meloni VA, Takeno SS, Pilla AL, De Mello CB, Melaragno MI, Kulikowski LD. Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up. Mol Cytogenet 2014; 22: 57.
Entry Date(s) :
Date Created: 20190920 Date Completed: 20200302 Latest Revision: 20200302
Update Code :
20210210
DOI :
10.1111/jdv.15824
PMID :
31535764
Czasopismo naukowe
Hidradenitis suppurativa (HS) is a chronic relapsing disorder of the apocrine gland affecting mainly areas subjected to friction (e.g. the axillae, groin, perineum and medial aspects of the thighs). This condition can be linked to different comorbidities: autoimmune and inflammatory disease, hormone-related disorders, obesity and the metabolic syndrome, as well as rare syndromes such as Bazex-Dupré-Christol, Down's, KID, PAPASH, PASS, PASH, and SAPHO syndromes, or Dowling-Degos disease. We report a case of severe HS in a patient with Trisomy 1q;13, a very rare cytogenetic anomaly characterized by severe anomalies including dysmorphisms, multiple congenital malformations, heart defects and intellectual disability.
(© 2019 European Academy of Dermatology and Venereology.)

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