Browsing by Author "Minić, Snežana (35409907200)"

Introduction Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis. Mutations of the IKBKG gene are responsible for IP. A deletion of exons 4–10 can be found in 80% of patients with IP. There are 69 different mutations of the IKBKG gene that have been reported. Case Outline A proband, female patient from a family without previously diagnosed IP is reported. She had skin and dental changes typical of IP. The diagnosis was made according to updated IP criteria. Pathohistological and ultrastructural analysis of skin biopsy confirmed the diagnosis. However, the common deletion of exons 4–10 in the IKBKG gene could not be detected. Sequencing revealed the indel (deletion/insertion) mutation c.641_647delGCATGGAinsAT (p.Arg214HisfsX38) in exon 5 of the IKBKG gene. Because this mutation could not be detected in the unaffected mother of the proband, it seems to be a de novo mutation. Conclusion The registered novel frameshift IKBKG mutation c.641_647delGCATGGAinsAT (p.Arg214HisfsX38) can be considered to be the cause of IP in this case. © 2015, Serbia Medical Society. All rights reserved.

Co-occurrence of blisters in patients with lichen sclerosus (LS) can raise the question of whether they represent a bullous variant of LS or a concomitant autoimmune disorder. We report a rare case of bullous pemphigoid (BP) occurring on previous LS lesions. To the best of our knowledge, this is also the first BP180-negative case reported in literature. Here, we propose alternative mechanisms, independent of BP autoantibodies, that may lead to development of BP on skin affected by LS. In addition, we provide a literature review that explores the underlying pathophysiology and offers practical treatment insights, equipping clinicians with valuable guidance for similar complex cases. © 2024, Association of Slovenian Dermatovenerologists. All rights reserved.

In X-chromosome-linked skin disorders the pattern of involvement follows Blaschko lines. Patterns of changes analogous to cutaneous Blaschko lines in different X-linked diseases existed in other organs. There is no commonly accepted analogy to Blaschko lines in the central nervous system (CNS). The objective of this study was to consider a hypothesis of the existence of Blaschko lines in the CNS in the example of incontinentia pigmenti (IP). Articles were analyzed in which brain imaging methods were used in IP patients with CNS anomalies. In IP patients with neurological signs brain lesions usually were localized and extended radially. Affected areas did not correspond to territories vascularized by any determined artery. Radially distributed brain lesions morphologically match the radial unit model of cortical development. It can be proposed that in IP in CNS Blaschko line analogies, similar to those in the skin, represent the trace of development of the clone of neurons arising from the cell marked with IKBKG mutation. The hypothesis of the existence of Blaschko line analogies in CNS is supported by radially distributed CNS image findings in IP, the radial unit model of CNS development, and the common embryonic origin of skin, CNS, and eyes. © 2013 Elsevier Ltd.

Introduction Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis. Mutations of the IKBKG gene are the only known cause of IP. The presence of other than skin changes is important in the diagnosis of atypical IP cases when skin changes are discrete. Objective The study was designed to analyze clinical manifestation, family histories and the frequency of IKBKG gene mutation in IP patients in Serbia for the first time and to compare them with other reported findings. Methods Two Serbian unrelated families with eight female subjects were investigated. Blood samples were used for IKBKG exon 4-10 deletion testing using modified PCR protocol. For probands pathohistological and ultrastructural analyses of skin biopsies were done. Results Positive clinical diagnosis according to IP criteria was present in seven cases. In six of them, including probands, positive molecular gene testing for IKBKG exon 4-10 deletion was present. Conclusion This is the first report of genetically confirmed IP in two Serbian families. The IP patients presented a common IKBKG exon 4-10 deletion. The frequency and type of IKBKG mutation found in investigated IP patients in Serbia were similar to results of other studies. Various clinical features of investigated patients have allowed us to demonstrate that molecular genetic testing which specifically detects the common IKBKG mutations, the only known cause of IP, is useful in diagnosing IP especially in mild or atypical cases. The molecular genetic testing of the IKBKG mutations may be helpful for rapid confirmation of IP diagnosis, prenatal diagnosis and carrier detection.

Introduction: Hidradenitis suppurativa (HS) is a chronic skin disease marked by recurrent abscesses, sinus tracts, and scarring, often accompanied by systemic symptoms. Diagnosed clinically, HS affects around 0.4% of people in western populations, but standardized treatment options are limited, leading to inconsistent outcomes. This study retrospectively analyzes 15 years of HS cases in southeastern Europe to better understand regional characteristics and treatment responses. Methods: This is a retrospective, cross-sectional study encompassing 103 HS patients hospitalized from 2007 to 2022 at a university dermatology and venereology clinic. Results: Women were younger than men at onset of HS (19 vs. 28 years old) and at first hospitalization (31 vs. 39 years old). Men were most often diagnosed as Hurley stage III at hospital admission (50.8%), whereas women predominantly had Hurley stage II (57.5%, p = 0.032). Trunk involvement was more prevalent in women (62.5% vs. 41.3%, p = 0.036) and the back of the neck in men (30.2% vs. 7.5%, p = 0.006). Obesity was the most commonly found concurrent disease (35.9%) overall, and a history of acne was the most frequent dermatological comorbidity (29.1%). HS patients had a fivefold increase in their chance of having psoriasis. The most commonly employed systemic treatments were oral antibiotics: rifampicin with clindamycin (62.1%) followed by tetracyclines (42.7%). Conclusions: HS patients had a fivefold higher likelihood of having psoriasis. Female patients were less likely to experience severe disease presentations. Although metabolic syndrome and its components were relatively common, they showed no correlation with disease severity. Treatment approaches for HS varied notably between males and females. © 2024, Association of Slovenian Dermatovenerologists. All rights reserved.

Introduction Incontinentia pigmenti (IP) is an X-linked genodermatosis in which skin changes are combined with dental, eye and central nervous system anomalies. Objective The goal of the study was to analyze ocular findings, IP minor criteria in available literature concerning IP cases published until now. Methods We have done meta-analysis of 1931 IP patients found in 302 references published until 2010. Comparison of data published for the 1906-1976 and 1976-2010 periods was made. The collected data were mainly frequencies of ocular anomalies. Chi-square test was used to compare observed frequencies with their expectations. Results Of total number of IP patients, 1,227 were ophthalmologically investigated. In 449 such patients 972 eye anomalies were registered, 2.16 anomalies per patient. Proportion of ophthalmologically investigated IP patients in the period 1906-1975 (70%) was higher than corresponding proportion (60%) for the period 1976-2010. For 1906-2010 period 36.5% IP patients with eye anomalies were diagnosed. The number of amaurotic eyes per patient did not significantly differ for the two periods (p=0.50; >0.05). The total number of eye anomalies per patient significantly differed for the same periods (p=0.00005; <0.05). Retinal anomalies were most frequent in both periods. Conclusion This study suggests that IP is far more frequent than anyone could estimate. We believe that this study, covering 1906-2010 period, gives more reliable information about ophthalmological findings in IP; considering them as severe anomalies. Early detection and treatment of ophthalmological, neurological etc. findings may prevent severe consequences that IP may cause.

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.

The objective of this study was to present a systematic review of the central nervous system (CNS) types of anomalies and to consider the possibility to include CNS anomalies in Incontinentia pigmenti (IP) criteria. The analyzed literature data from 1,393 IP cases were from the period 1993-2012. CNS anomalies were diagnosed for 30.44% of the investigated IP patients. The total number of CNS types of anomalies per patient was 1.62. In the present study there was no significantly higher number of anomalies per patient in females than males. The most frequent CNS types of anomalies were seizures, motor impairment, mental retardation, and microcephaly. The most frequently registered CNS lesions found using brain imaging methods were brain infarcts or necrosis, brain atrophies, and corpus callosum lesions. IKBKG exon 4-10 deletion was present in 86.00% of genetically confirmed IP patients. The frequency of CNS anomalies, similar to the frequency of retinal anomalies in IP patients, concurrent with their severity, supports their recognition in the list of IP minor criteria. © 2013 Minic et al.; licensee BioMed Central Ltd.

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.