Browsing by Author "Novotny, Gerd E.K. (7004121730)"

Introduction: Incontinentia pigmenti (IP) is a rare complex X-linked genodermatosis in which skin changes are combined with anomalies of other organs. Mutations of the NEMO gene localized on chromosome Xq28 are responsible for IP. Clinical manifestations of IP according to evolution and prognosis can be considered as skin changes and dental, eye and central nervous system changes. Objective: The aim of our study was to investigate type and frequency of ocular features in Serbian population. Methods: We investigated the total of 9 families with 22 subjects, 20 females and 2 males, at the Institute of Dermatovenerology, Clinical Centre of Serbia, in the period from 1989 to 2009. Our subjects were diagnosed clinically by a dermatologist and the diagnosis confirmed by cutaneous histopathology and ultrastructural analysis. The pedigrees, karyotype analyses, routine laboratory findings, additional specialized clinical examinations were done for all subjects. Results: Among 22 IP patients from our study, different ophthalmological anomalies were observed in 16% of subjects. In female subjects, all of them with clinical characteristics of IP, we observed the following anomalies: retinal detachment, microphthalmia, cataract, strabismus and nystagmus. Conclusion: Compared to available literature data, our percentage of IP patients with anomalies was lower. It may be due to differences in examined populations or due to the fact that the patients in our study were firstly admitted to the Institute of Dermatology. Ophthalmological findings may be often considered as very severe anomalies in IP. It is very important to detect IP as early as possible, medically help and monitor these patients.

Background. Incontinentia pigmenti (IP) is a rare, complex, X-linked genodermatosis in which skin changes are combined with defects of other organs. It appears almost exclusively in females and is usually lethal in men. It is estimated that according to the available reported cases, there have been approximately 900-1 200 affected individuals, out of which 60 males. The aim of the study was to report two additional individual male cases with IP. Case reports. We discovered two male patients with IP according to standard IP diagnostic criteria. The diagnosis was made by a dermatologist and confirmed by cutaneous histopathology and ultrastructural analysis. The pedigrees, karyotype analyses and routine laboratory findings were made. Two male probands were the only ones with IP in their families, with no history of miscarriages. Both probands had normal karyotype. In one proband, acrocentric chromosomes of the group D had tendency of forming associations. Histopathological and ultrastructural skin analyses revealed findings typical for IP. Conclusion. The detection of each male case is very valuable because of their rarity. Application of the standard diagnostic criteria is necessary for comparison and epidemiological analysis. Monitoring such probands allows a better determination of how genetic transmission occurs, and is important because of the different degrees of severity of IP.