Clinical study of 20 patients with incontinentia pigmenti.

Autor: Poziomczyk CS; Section of Dermatology, Federal University of Health Sciences of Porto Alegre, Porto Alegre, Brazil.; Department of Pathology Postgraduate Program, Federal University of Health Sciences of Porto Alegre, Porto Alegre, Brazil., Bonamigo RR; Section of Dermatology, Federal University of Health Sciences of Porto Alegre, Porto Alegre, Brazil.; Department of Pathology Postgraduate Program, Federal University of Health Sciences of Porto Alegre, Porto Alegre, Brazil., Santa Maria FD; Department of Pathology Postgraduate Program, Federal University of Health Sciences of Porto Alegre, Porto Alegre, Brazil., Zen PR; Department of Pathology Postgraduate Program, Federal University of Health Sciences of Porto Alegre, Porto Alegre, Brazil.; Section of Clinical Genetics, Department of Clinical Medicine, Federal University of Health Sciences of Porto Alegre, Porto Alegre, Brazil., Kiszewski AE; Section of Dermatology, Federal University of Health Sciences of Porto Alegre, Porto Alegre, Brazil.; Section of Pediatric Dermatology, Hospital da Criança Santo Antônio, Irmandade da Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, Brazil.
Jazyk: angličtina
Zdroj: International journal of dermatology [Int J Dermatol] 2016 Feb; Vol. 55 (2), pp. e87-93. Date of Electronic Publication: 2015 Nov 06.
DOI: 10.1111/ijd.13060
Abstrakt: Background: Incontinentia pigmenti (IP) is a rare genodermatosis with early prenatal lethality in affected males. Clinical manifestations are usually more exuberant in sporadic than in familial cases. Cutaneous manifestations occur in all sporadic cases and about 96% of familial cases. As well as the skin, other tissues arising from the neuroectoderm may be affected.
Objectives: This study was designed to evaluate dermatologic, dental, neurologic, and ophthalmologic manifestations in patients with IP.
Methods: Findings in IP patients and family members also diagnosed with IP in Porto Alegre, Brazil, during 2003-2012, were analyzed.
Results: Thirteen children and seven relatives were diagnosed with IP; 38.4% of cases were familial, and 61.5% were sporadic. Mean ± standard deviation follow-up was 46.08 ± 39.47 months. Frequencies of 100% and 85.7% for dermatologic manifestations, 23.0% and 0% for neurologic manifestations, 62.5% and 71.4% for dental manifestations, and 11.1% and 42.8% for ophthalmologic manifestations were found in affected children and relatives, respectively. Associated diseases include Wilms' tumor, myasthenia gravis, Still's syndrome, and congenital hypothyroidism.
Conclusions: These findings reinforce the heterogeneity of dermatologic findings and the numerous extracutaneous manifestations requiring a multidisciplinary approach. The follow-up of patients with IP is important in the detection of serious associated diseases. The relationships between these disorders and IP raise the need for additional longitudinal studies with longterm monitoring of these patients. The management of IP in clinical practice may benefit from early efforts to detect associated diseases.
(© 2015 The International Society of Dermatology.)
Databáze: MEDLINE
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