This Article  • Full text  • PDF  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Citing articles on Web of Science (24)  • Contact me when this article is cited  Related Content  • Related article  • Similar articles in this journal  Topic Collections  • Dermatologic Disorders  • Diagnosis  • Dermatologic Disorders, Other  • Genetics  • Genetic Counseling/ Testing/ Therapy  • Alert me on articles by topic  Social Bookmarking   What's this?

Smaïl Hadj-Rabia, MD; David Froidevaux, MD; Nathalie Bodak, MD; Dominique Hamel-Teillac, MD; Asma Smahi, PhD; Yasmina Touil, MD; Sylvie Fraitag, MD; Yves de Prost, MD; Christine Bodemer, MD, PhD

Arch Dermatol. 2003;139:1163-1170.

Objective  To analyze the distribution of manifestations in a pediatric cohort and define guidelines for follow-up of incontinentia pigmenti (IP).

Design  Retrospective study of 47 children referred to the Department of Pediatric Dermatology with a diagnosis of IP between 1986 and 1999.

Setting  The private or institutional practice of participating dermatologists and pediatricians.

Main Outcome Measures  Evaluation of IP clinical diagnosis using the Landy and Donnai criteria.

Results  Because hyperpigmentation following the Blaschko lines may be observed in several pigmented disorders, 7 patients were found misdiagnosed. During the neonatal period, erythema, vesicles, and hyperkeratotic le sions were rarely absent in the patients with IP. Ocular and neurological abnormalities were frequent (20% and 30%, respectively) but rarely severe (8% and 7.5%, respectively).

Conclusions  Clinical diagnosis is the first main step for a correct phenotype/genotype correlation, which remains indispensable to better understand the pathological mechanisms of IP and develop new therapies. In doubtful cases, molecular analysis is helpful but characteristic histological features must be added as major criteria for IP diagnosis. Multidisciplinary follow-up is needed, particularly during the first year of life, to detect possible ophthalmologic and neurological complications. Neuroimaging ought to be performed in the case of abnormal neurological examination results or when vascular retinopathy is detected.

From the Departments of Dermatology (Drs Hadj-Rabia, Froidevaux, Bodak, Hamel-Teillac, Touil, de Prost, and Bodemer), Medical Genetics (Drs Hadj-Rabia and Smahi), and Pathology (Dr Fraitag), Hôpital Necker–Enfants-Malades, Paris, France. The authors have no relevant financial interest in this article.

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?

RELATED ARTICLE

A Fresh Look at Incontinentia Pigmenti
Rudolf Happle
Arch Dermatol. 2003;139(9):1206-1208.
EXTRACT | FULL TEXT  

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Nearly Completely Reversible Brain Abnormalities in a Patient with Incontinentia Pigmenti
Lou et al.
Am. J. Neuroradiol. 2008;29:431-433.
ABSTRACT | FULL TEXT  

Diffuse Cortical Necrosis in a Neonate with Incontinentia Pigmenti and an Encephalitis-Like Presentation
Wolf et al.
Am. J. Neuroradiol. 2005;26:1580-1582.
ABSTRACT | FULL TEXT  

Incontinentia Pigmenti: The Clinician's Eye Is Still Needed
Journal Watch Dermatology 2003;2003:4-4.
FULL TEXT  

A Fresh Look at Incontinentia Pigmenti
Happle
Arch Dermatol 2003;139:1206-1208.
FULL TEXT