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Clinical study of 20 patients with incontinentia pigmenti
Author(s) -
Poziomczyk Claudia S.,
Bonamigo Renan R.,
Santa Maria Fernanda D.,
Zen Paulo R. G.,
Kiszewski Ana E.
Publication year - 2016
Publication title -
international journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 93
eISSN - 1365-4632
pISSN - 0011-9059
DOI - 10.1111/ijd.13060
Subject(s) - medicine , genodermatosis , incontinentia pigmenti , dermatology , pediatrics , biochemistry , chemistry , gene
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.