Melkersson-Rosenthal syndrome (MRS) is an uncommon granulomatous disease 
characterized by the triad of relapsing facial paralysis, orofacial swelling, 
and fissured tongue. Genital swelling in MRS is rarely reported. We presented 
the first case of complete MRS with genital swelling in a child. Biopsy 
examinations of both the child's lower lip and penis showed noncaseating 
granuloma and intralymphatic granuloma infiltration. No symptoms or signs of 
other systemic disease (Crohn's disease or sarcoidosis) were observed after 2 
years of follow-up. Genetic screening for CARD15/NOD2 in this patient showed 
negative, which further confirmed the diagnosis of MRS. Eleven other cases of 
suspected complete or incomplete MRS with genitalia involved were reviewed. Our 
case emphasizes the specific clinical feature of MRS with genitalia involved, 
which was genetically different from Crohn's disease and could be an independent 
entity. Lymphatic obstruction is responsible for localized edema in MRS.