Browsing by Author "Bilgili, S. Gunes"

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Alstrom Syndrome With Acanthosis Nigricans: a Case Report and Literature Review
(Medecine Et Hygiene, 2011) Akdeniz, N.; Bilgili, S. Gunes; Aktar, S.; Yuca, S.; Calka, O.; Kilic, A.; Kosem, M.
Alstrom syndrome with acanthosis nigricans: a case report and literature review: Alstrom syndrome (AS) is a very rare autosomal recessively inherited disorder that can lead to infantile-onset dilated cardiomyopathy, blindness, hearing impairment, obesity, diabetes, hepatic and renal dysfunction. AS is caused by mutations in the ALMS I gene, which is located at chromosome 2p13. The life span of patients with AS rarely goes beyond an age of 40 years. There is no specific therapy for AS, but early diagnosis and intervention may moderate the progression of the disease and may improve the length and quality of the patient's life. We report a 10 year-old boy presenting with Alstrom Syndrome and acanthosis nigricans.
Icmthyosis Linearis Circlimflexa: Not Always a Part of Netherton Syndrome
(Medecine Et Hygiene, 2016) Bilgili, S. Gunes; Karadag, A. S.; Calka, O.; Onder, S.; Bayram, I.
Ichthyosis Linearis Circumflexa: not always apart ofNetherton syndrome: Ichthyosis Linearis Circumflexa (ILC) is a rarely seen autosomal recessive keratinization disorder and is characterized by erythematous, polycystic, plaques with 'double-edged' scales. Its histological features resemble psoriasis. A triad of ichthyosis (usually Ichthyosis Linearis Circumflexa), trichorrhexis invaginata (a distinctive hair shaft disorder) and atopy is named as Netherton syndrome. Herein, we report a 12 year-old girl presenting with ILC not accompanied with typical atopy findings and hair shaft disorder.
Mucocutaneous Disorders in Children With Down Syndrome: Case-Controlled Study
(Medecine Et Hygiene, 2011) Bilgili, S. Gunes; Akdeniz, N.; Karadag, A. S.; Akbayram, S.; Calka, O.; Ozkol, H. Uce
Mucocutaneous disorders in children with Down syndrome: case controlled study: Objective: Down's syndrome is the most frequent chromosomal anomaly that can affect a multiple organ systems, including skin. In this study, we compared the frequency of mucocutaneous disorders in children with Down's syndrome with normal children. Methods: We recruited fifty children with Down's syndrome and 50 healthy children as a control in our study. Mucocutaneous abnormalities were examined in both groups. Findings: Of 50 patients, 22 were girls and 28 were boys. The skin findings such as xerosis and Mongolian spots were the most frequently seen in the patients with Down's syndrome. Seborrheic dermatitis, cheilitis and fissured tongue were seen frequently, as well. The rare findings were plantar hyperkeratosis, alopecia areata, geographic tongue, cafe-au-lait macula, livedo reticularis, cutaneous infections, pityriasis capitis simplex, cutis marmorata, neurotic excoriation, trichotillomania, keratosis pilaris and diaper dermatitis. No mucocutaneous finding was seen in 16 patients. The prevalence of the skin disorders including Mongolian spot, seborrheic dermatitis, cheilitis, fissured tongue was significantly higher in patients with Down syndrome than normal individuals (p<0.05). Conclusion: Therefore, large-scaled epidemiological studies covering the entire population are needed. We believe that these studies could provide better understanding the dermatological diseases in children with Down's syndrome that would help to practitioners to treat these problems.