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Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts.

Shehla MohammedKatherine S JosephsPia OstergaardKristiana GordonMalou Van ZantenJulian PearceSteve JefferyVaughan KeeleyKatie RichesAlexander KreuterUlrike WielandRené HägerlingLakshmi RatnamEge SackeyDionysios GrigoriadisBernard HoFrances SmithElisabeth RauterPeter MortimerDerek Macallan
Published in: Journal of medical genetics (2021)
ysplasia' and suggest specific diagnostic criteria. The essential criterion is congenital multisegmental PL in a 'mosaic' distribution. The major diagnostic features are recurrent warts, cutaneous lymphovascular malformations, systemic involvement (lymphatic dysplasia), genital swelling and CD4 lymphopaenia with normal monocyte counts. The absence of family history suggests a sporadic condition, and the random distribution of swelling implicates mosaic postzygotic mutation as the cause.
Keyphrases
  • lymph node
  • lymph node metastasis
  • endometrial cancer
  • peripheral blood
  • nk cells
  • dendritic cells
  • late onset
  • squamous cell carcinoma
  • immune response
  • genetic diversity
  • drug induced