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Sexual precocity in hypomelanosis of Ito: mosaicism-associated case report and literature review

 Jin Mo Park  ;  Hee Jung Kim  ;  Min-Geol Lee  ;  Duk Hee Kim  ;  Hyun Wook Chae  ;  Taegyun Kim 
 International Journal of Dermatology, Vol.50(2) : 168-174, 2011 
Journal Title
 International Journal of Dermatology 
Issue Date
BACKGROUND: Hypomelanosis of Ito (HI), a neurocutaneous disorder characterized by hypopigmented skin lesions along Blaschko's line with multiple accompanying diseases, may occasionally present with sexual precocity. METHODS: We reviewed cases of HI with sexual precocity reported in the literature and focused on collecting information on other associated organ abnormalities, chromosomal karyotype, and type of sexual precocity. We also present our own case report. RESULTS: Five children with sexual precocity in HI were studied. All patients were full-term females without significant family history. Their ages ranged from three years to 11 years. Skin lesions involved the trunk and limbs. Developmental delay was present in all patients. Central nervous system involvement was found in four patients. Craniofacial abnormalities were present in four patients. Eye involvement was present in two patients. Limb abnormalities (brachydactyly and clinodactyly) were present in two patients. Skeletal organ involvement was present in three patients. Other skin lesions were present in three patients. Dental abnormalities occurred in one patient. Of the five patients, four demonstrated a peripheral type of sexual precocity, and one presented with central type sexual precocity. Vaginal bleeding was present in two patients. Chromosomal karyotype abnormalities were found in two patients, and mosaicism was present in one of these. CONCLUSIONS: Hypomelanosis of Ito is a syndrome characterized by cutaneous signs frequently associated with nervous, ocular, and musculoskeletal system abnormalities. Although it is rarely reported in conjunction with HI, physicians should recognize sexual precocity as a possible associated symptom.
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Dermatology (피부과학교실)
Yonsei Authors
김덕희(Kim, Duk Hee) ; 이민걸(Lee, Min Geol) ; 채현욱(Chae, Hyun Wook)
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