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

Conclusion
WILD syndrome is a previously unrecognised, underdiagnosed generalised PL syndrome. Based on this case series, we redefine WILD as ‘Warts, Immunodeficiency, andLymphatic Dysplasia’ 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.

Source: Journal of Medical Genetics - December 23, 2022 Category: Genetics & Stem Cells Authors: Mansour, S., Josephs, K. S., Ostergaard, P., Gordon, K., Van Zanten, M., Pearce, J., Jeffery, S., Keeley, V., Riches, K., Kreuter, A., Wieland, U., Hägerling, R., Ratnam, L., Sackey, E., Grigoriadis, D., Ho, B., Smith, F., Rauter, E., Mortimer, P. Tags: Open access Phenotypes Source Type: research