Clinical study of 40 cases of incontinentia pigmenti.
ABSTRACT To analyze the distribution of manifestations in a pediatric cohort and define guidelines for follow-up of incontinentia pigmenti (IP).
Retrospective study of 47 children referred to the Department of Pediatric Dermatology with a diagnosis of IP between 1986 and 1999.
The private or institutional practice of participating dermatologists and pediatricians.
Evaluation of IP clinical diagnosis using the Landy and Donnai criteria.
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).
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.
- SourceAvailable from: Alessandra Pescatore[Show abstract] [Hide abstract]
ABSTRACT: We report here on the building-up of a database of information related to 386 cases of Incontinentia Pigmenti collected in a thirteen-year activity (2000-2013) at our centre of expertise. The database has been constructed on the basis of a continuous collection of patients (27.6/year), the majority diagnosed as sporadic cases (75.6%). This activity has generated a rich source of information for future research studies by integrating molecular/clinical data with scientific knowledge. We describe the content, architecture and future utility of this collection of data on IP to offer comprehensive anonymous information to the international scientific community.Orphanet Journal of Rare Diseases 06/2014; 9(1):93. · 3.96 Impact Factor
Article: Incontinentia pigmenti.[Show abstract] [Hide abstract]
ABSTRACT: Incontinentia pigmenti is a rare genodermatosis in which the skin involvement occurs in all patients. Additionally, other ectodermal tissues may be affected, such as the central nervous system, eyes, hair, nails and teeth. The disease has a X-linked dominant inheritance pattern and is usually lethal to male fetuses. The dermatological findings occur in four successive phases, following the lines of Blaschko: First phase - vesicles on an erythematous base; second phase - verrucous hyperkeratotic lesions; third phase - hyperchromic spots and fourth phase - hypochromic atrophic lesions.Anais brasileiros de dermatologia 01/2014; 89(1):26-36.
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ABSTRACT: Ein 5 Wochen alter weiblicher Säugling entwickelte seit Geburt den Blaschko-Linien folgende Bläschen und Erytheme an den oberen und unteren Extremitäten sowie am Abdomen. Eine feingewebliche Untersuchung bestätigte die klinische Verdachtsdiagnose einer Incontinentia pigmenti. Nachfolgend werden die Klinik und Diagnostik sowie die molekulargenetische Basis dieser seltenen Genodermatose dargestellt.Der Hautarzt 01/2004; 55(10). · 0.54 Impact Factor