Incontinentia pigmenti: clinical observation of 40 Korean cases.
Incontinentia pigmenti (IP) is an uncommon genodermatosis that usually occurs in female infants. It is characterized by ectodermal, mesodermal, neurological, ocular, and dental manifestations. The aim of this study was to clarify clinical symptoms, accompanying diseases, and complications of IP. Forty cases of IP have been reviewed by their medical records, laboratory data, clinical photographs, and telephone survey. Male-to-female ratio was 1 to 19 and their onsets were mostly in utero. They were usually diagnosed during the neonatal period owing to their early expression of skin manifestation. Central nervous system anomalies were found in 46.7%. Ocular disorders and dental defects were detected in 66.7% and 72.7% respectively. The most commonly diagnosed anomalies were hypodontia, retinopathy, and seizure. For better understanding of IP, long term and close cooperation between dermatologists, pediatricians, neuroscientists, genetic counselors, and even dentists is crucial.
Kim
Beom Joon
BJ
Department of Dermatology, Seoul National University College of Medicine, Seoul, Korea.
Shin
Hyo Seung
HS
Won
Chong Hyun
CH
Lee
Jong Hee
JH
Kim
Kyu Han
KH
Kim
Myeung Nam
MN
Ro
Byung In
BI
Kwon
Oh Sang
OS
D002493:Central Nervous System Diseases / Q000150:complications; D002648:Child; D002675:Child, Preschool; D004802:Eosinophilia / Q000150:complications; D005128:Eye Diseases / Q000150:complications; D005260:Female; D006801:Humans; D007184:Incontinentia Pigmenti / Q000175:diagnosis* / Q000473:pathology; D007223:Infant; D007231:Infant, Newborn; D007723:Korea; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D012871:Skin Diseases / Q000150:complications; D009057:Stomatognathic Diseases / Q000150:complications