J Korean Med Sci.  2006 Jun;21(3):474-477. 10.3346/jkms.2006.21.3.474.

Incontinentia Pigmenti: Clinical Observation of 40 Korean Cases

• Kim BJ
• Shin HS
• Won CH
• Lee JH
• Kim KH
• Kim MN
• Ro BI
• Kwon OS

• KMID: 1778431
• DOI: http://doi.org/10.3346/jkms.2006.21.3.474

Abstract

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, genentic counselors, and even dentists is crucial.

Keyword

Incontinentia Pigmenti; Skin Diseases, Genetic; Genodermatosis; Seizures; Retinal Diseases

MeSH Terms

Stomatognathic Diseases/complications
Skin Diseases/complications
Male
Magnetic Resonance Imaging/methods
Korea
Infant, Newborn
Infant
Incontinentia Pigmenti/*diagnosis/pathology
Humans
Female
Eye Diseases/complications
Eosinophilia/complications
Child, Preschool
Child
Central Nervous System Diseases/complications

Figure

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  Fig. 1 Clinical stages of incontinentia pigmenti. (A) Linear vesicles and bullae of stage 1. (B) Dark brown colored verrucous papules and plaques of stage 2. (C) Light brown colored swirling hyperpigmentation of stage 3. (D) White atrophic patches of stage 4.

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