A case of hidradenitis suppurativa linked to trisomy 1q.
Journal
Journal of the European Academy of Dermatology and Venereology : JEADV
ISSN: 1468-3083
Titre abrégé: J Eur Acad Dermatol Venereol
Pays: England
ID NLM: 9216037
Informations de publication
Date de publication:
Oct 2019
Oct 2019
Historique:
received:
08
04
2019
accepted:
17
05
2019
entrez:
20
9
2019
pubmed:
20
9
2019
medline:
3
3
2020
Statut:
ppublish
Résumé
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.
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
32-33Informations de copyright
© 2019 European Academy of Dermatology and Venereology.
Références
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.