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 MacallanPublished 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.