TY - JOUR
T1 - Familial clustering of giant congenital melanocytic nevi
AU - de Wijn, Robert S.
AU - Zaal, Laura H.
AU - Hennekam, Raoul C. M.
AU - van der Horst, Chantal M. A. M.
PY - 2010
Y1 - 2010
N2 - Giant congenital melanocytic nevus (GCMN) is an infrequently occurring congenital malformation. GCMN generally occurs in isolation but rare familial occurrence points to a genetic background. We present two cases of familial GCMN: one with two affected siblings and another with two affected double second cousins. Familial occurrence of GCMN reported in literature is reviewed and an overview of the embryology and proliferation given, illustrating the plethora of factors that might lead to GCMN formation. The pattern of inheritance is likely not Mendelian and discordance in identical twins and the segmental distribution of lesions suggest a post-zygotic mutation. A polygenic paradominant inheritance best explains the clinically observed transmission pattern. Candidate genes include those influencing neural crest development and melanocyte proliferation. (C) 2009 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved
AB - Giant congenital melanocytic nevus (GCMN) is an infrequently occurring congenital malformation. GCMN generally occurs in isolation but rare familial occurrence points to a genetic background. We present two cases of familial GCMN: one with two affected siblings and another with two affected double second cousins. Familial occurrence of GCMN reported in literature is reviewed and an overview of the embryology and proliferation given, illustrating the plethora of factors that might lead to GCMN formation. The pattern of inheritance is likely not Mendelian and discordance in identical twins and the segmental distribution of lesions suggest a post-zygotic mutation. A polygenic paradominant inheritance best explains the clinically observed transmission pattern. Candidate genes include those influencing neural crest development and melanocyte proliferation. (C) 2009 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved
U2 - https://doi.org/10.1016/j.bjps.2009.02.090
DO - https://doi.org/10.1016/j.bjps.2009.02.090
M3 - Review article
C2 - 19464972
SN - 1748-6815
VL - 63
SP - 906
EP - 913
JO - Journal of plastic, reconstructive & aesthetic surgery
JF - Journal of plastic, reconstructive & aesthetic surgery
IS - 6
ER -