Ann Dermatol.  2009 Feb;21(1):56-59. 10.5021/ad.2009.21.1.56.

A Case of Incontinentia Pigmenti Associated with Multiorgan Abnormalities

• Chung WK
• Lee DW
• Chang SE
• Lee MW
• Choi JH
• Moon KC

• KMID: 2172068
• DOI: http://doi.org/10.5021/ad.2009.21.1.56

Abstract

Incontinentia pigmenti is a systemic disorder affecting the skin, teeth, eyes, nervous tissue, hair, nails, musculoskeletal system, and heart. We describe an 11-month-old girl with incontinentia pigmenti associated with a ventricular septal defect, left hemiatrophy, hemangiomas, an abnormal labial frenum, and spastic cerebral palsy manifested as left hemiplegia and developmental delay. We believe this patient illustrates that incontinentia pigmenti is a systemic disorder necessitating a multidisciplinary approach to management.

Keyword

Genodermatosis; Incontinentia pigmenti; Systemic disorder

MeSH Terms

Cerebral Palsy
Eye
Hair
Heart
Heart Septal Defects, Ventricular
Hemangioma
Hemiplegia
Humans
Incontinentia Pigmenti
Infant
Labial Frenum
Musculoskeletal System
Nails
Skin
Tooth

Figure

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  Fig. 1 Linear and whorled brownish patches on the trunk (A) and extremities (B), reddish plaque on the back (C).

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  Fig. 2 A large perimembranous ventricular septal defect is seen on echocardiography.

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  Fig. 3 Histopathologically, focal vacuolar change of the basal layer (A) and a dermal melanophage are observed (B) (H&E, ×400).

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  Fig. 4 At the age of 14 months, Bell Thomson study shows that the right leg is 1.4 cm longer than the left leg.

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  Fig. 5 Abnormal labial frenum.

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