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  • Print publication year: 2004
  • Online publication date: July 2009

13 - Incontinentia pigmenti

Summary

Introduction

Incontinentia pigmenti (IP) (MIM 308310) is a disorder of the skin, eye and central nervous system that occurs primarily in females but occasionally in males. Incontinentia pigmenti is an X-linked condition with early lethality in males (X-linked dominant). Affected females typically have an erythematous, vesicular rash that appears at birth or soon after birth. This rash evolves over time, becoming verrucous and pigmented, and then atrophic. Adults have areas of linear hypopigmentation. Other manifestations include alopecia, hypodontia/misshapen teeth, leukocytosis with eosinophilia, vascular abnormalities of the retina, and other eye findings. Skeletal and dental anomalies are common and quite varied. Neurologic manifestations are primarily seizures and mental retardation.

Clinical recognition of IP began during the first decade of the twentieth century. Garrod briefly described a young girl with severe neurodevelopmental deficits who had peculiar skin pigmentation consisting of linear streaks and whorls of hyperpigmentation (Garrod, 1906). A more detailed description of IP was provided by Sulzberger in 1928, who noted the association of the skin pattern with other organ involvement in a patient reported 2 years earlier by Bloch, who introduced the term incontinentia pigmenti.

Clinical features (Table 13.1)

Skin

The skin lesions are the hallmark of IP, and they typically manifest in stages which evolve over weeks to years. The clinical variability in these skin lesions has been underemphasized. The onset and duration of each stage vary among patients; not all patients experience all four stages.

REFERENCES
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Brunquell, P. J. (1987). Recurrent encephalomyelitis associated with incontinentia pigmenti. Pediatric Neurology, 3: 174–177
Carney, R. G. (1976). Incontinentia pigmenti. A world statistical analysis. Archives of Dermatology, 112: 535–542
Garrod, A. E. (1906). Peculiar skin pigmentation of the skin in an infant. Transactions of the Clinical Society of London, 39: 216–217
Goldberg, M. F. & Custis, P. H. (1993). Retinal and other manifestations of incontinentia pigmenti (Bloch–Sulzberger syndrome). Ophthalmology, 100: 1645–1654
Heathcote, J. G., Schoales, B. A. & Willis, N. R. (1991). Incontinentia pigmenti (Bloch–Sulzberger syndrome): a case report and review of the ocular pathological features. Canadian Journal of Ophthalmology, 26: 229–237
Incontinentia Pigmenti. Online Mendelian Inheritance in Man, OMIM (TM), 2002. Johns Hopkins University, Baltimore, MD. MIM Number: 308300: 2/19/02
Kasmann-Kellner, B., Jurin-Bunte, B. & Ruprecht, K. W. (1999). Incontinentia pigmenti (Bloch–Sulzberger-syndrome): case report and differential diagnosis to related dermato-ocular syndromes. Ophthalmologica, 213: 63–69
O'Brien, J. E. & Feingold, M. (1985). Incontinentia pigmenti. A longitudinal study. American Journal of Diseases Childhood, 139: 711–712
Person, J. R. (1985). Incontinentia pigmenti: a failure of immune tolerance? Journal of the American Academy of Dermatology, 13: 120–124
Siemes, H., Schneider, H., Dening, D. & Hanefeld, F. (1978). Encephalitis in two members of a family with incontinentia pigmenti (Bloch–Sulzberger syndrome). The possible role of inflammation in the pathogenesis of CNS involvement. European Journal of Pediatrics, 129: 103–115
Stitt, W. Z., Scott, G. A., Caserta, M. & Goldsmith, L. A. (1998). Coexistence of incontinentia pigmenti and neonatal herpes simplex virus infection. Pediatric Dermatology, 15: 112–115
Sulzberger, M. B. (1928). Uber eine bisher nicht beschriebene congenitale Pigmentanomalie (incontinentia pigmenti). Archives of Dermatology and Syphilis (Berlin), 154: 19–32
The International Incontinentia Pigmenti (IP) Consortium (2000). Genomic rearrangement in NEMO impairs NF-kB activation and is a cause of incontinentia pigmenti. Nature, 405: 466–472
Wagner, A. (1997). Distinguishing vesicular and pustular disorders in the neonate. Current Opinion in Pediatrics, 9: 396–405