Harlequin Ichthyosis – Genetic and Dermatological Challenges: A Case Report and Literature Review

Harlequin ichthyosis (HI) is an extremely rare and severe genetic skin disorder characterized by thick, diamond-shaped scales covering the body, often giving the appearance of a harlequin costume. This paper provides an overview of the genetic and dermatological aspects of HI, delving into its etiology, clinical manifestations, and management. The genetic underpinnings of HI involve mutations in the ABCA12 gene, leading to impaired skin barrier function and abnormal keratinization. Understanding the molecular basis of the disorder is crucial for accurate diagnosis and potential therapeutic interventions. Clinically, HI presents challenges related to skin integrity, thermoregulation, and potential complications, such as infections. The management of HI requires a multidisciplinary approach involving dermatologists, geneticists, and other healthcare professionals. Supportive care, including emollients, careful bathing, and prevention of infections, is essential to improve the quality of life for individuals affected by this condition. Despite its rarity and severity, advancements in medical research and genetic therapies offer hope for improved treatments and interventions. This paper aims to contribute to the collective understanding of HI, fostering ongoing research and compassionate care for those living with this unique and challenging dermatological condition. We presented a premature eutrophic harlequin baby, born at 32+ weeks of gestation via emergency C-section. A clinical diagnosis was established minutes after birth, based on the typical features of HI, from scaly skin, marked fissures, and limbs in flexion contractures to prominent eclabium and bilateral ectropion

Microperforated Hymen Presenting Spontaneous Pregnancy with Cesarean Delivery and Hymenotomy Surgery: A Case Report

BACKGROUND: Female genital tract anomalies including imperforate hymen affect sexual life and fertility.CASE PRESENTATION: In the present case, we describe a pregnant woman diagnosed with imperforate hymen which never had penetrative vaginal sex. A 27–year-old married patient with 2 months of amenorrhea presented in a clinic without any other complications. Her history of difficult intercourse and prolonged menstrual flow were reported, and subsequent vaginal examination confirmed the diagnosis of imperforate hymen even though she claims to made pinhole surgery in hymen during puberty. Her urine pregnancy test was positive, and an ultrasound examination revealed 8.3 weeks pregnant. The pregnancy was followed up to 39.5 weeks when she entered in cesarean delivery in urgency. Due to perioperative complications in our study, a concomitant hymenotomy was successfully performed. The patient was discharged with the baby, and vaginal anatomy was restored.CONCLUSIONS: This case study suggests that even though as microperforated hymen surgery in puberty can permit pregnancy and intervention with cesarean section and hymenotomy is a good option to reduce the resulting perioperative complications which indirectly affect the increase of the fertilisation and improvement of later sexual life

Gestational Diabetes Mellitus (GDM) in the Republic of Kosovo: a Retrospective Pilot Study.

Background: GDM is a condition in which women without previously diagnosed diabetes exhibit high blood glucose levels during pregnancy. Pregnancy causes some insulin resistance in all women, but only a few develop GDM. Objective: To test the hypothesis that women with GDM have impaired regulation of blood iron storage and transport, decreased renal function due to decreased glomerular filtration rate and occurrence of urinary tract infection (UTI). Study design and Methods: Incidence of blood iron storage was investigated in n=30 pregnant kosovar women with GDM after mild of pregnancy and in n=30 pregnant women without GDM (years 2010-2012). Results and Discussion: Baby weights, both systolic and diastolic BP, creatinine, albumin, lymphocytes, monocytes, WBC and granulocytes in both groups were within their normal ranges in both groups. Compared to control group, glucose was higher in women with GDM (mean ± SD: 7.43±2.23 mg/dL vs. 4.33±0.63 mg/dL; P<0.001). Women with GDM had also higher RBC (mean ± SD: 4.4±0.8 % vs. 3.8 ± 0.3 %; P<0.005) and HGB (mean ± SD: 13.0±3.2 g/dL vs. 11.2±1.4 mg/dL; P<0.05), and decreased renal functionality (MDRD-GFR: 92.8 ± 25.8 g/dL vs. 108.2 ± 38.2 g/dL; P<.05).Conclusion: There is a potential association between iron status and GDM. The role of iron from diet and/or from supplementation in GDM pathogenesis needs still to be examined. In additio