Sexual precocity in hypomelanosis of Ito: mosaicism-associated case report and literature review.
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.
Department of Dermatology, Yonsei University College of Medicine, Seoul, South Korea.
Jin Mo
JM
Park
Hee Jung
HJ
Kim
Taegyun
T
Kim
Hyun Wook
HW
Chae
Duk Hee
DH
Kim
Min-Geol
MG
Lee
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002658:Developmental Disabilities / Q000235:genetics* / Q000473:pathology; D005121:Extremities; D005260:Female; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D020752:Neurocutaneous Syndromes / Q000235:genetics; D010859:Pigmentation Disorders / Q000235:genetics* / Q000473:pathology; D011629:Puberty, Precocious / Q000235:genetics / Q000473:pathology; D011859:Radiography; D012189:Retrospective Studies