We report on a 6-year-old girl with short stature, facial anomalies, cutis aplasia, nasolacrimal duct obstruction, megalocorneae, kyphoscoliosis with multiple segmentation defects of the thoracic vertebrae, and 11 pairs of ribs. These anomalies together may represent a newly recognized syndrome.
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Int J Surg Case Rep
January 2025
Department of Surgery, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.
Introduction: Choledochal cysts are rare congenital anomalies of the bile ducts, with adult presentations being uncommon. This case is notable for its atypical presentation in a young adult, mimicking a hydatid cyst in a region where echinococcosis is endemic.
Case Presentation: A 22-year-old female presented with a 3-month history of progressive jaundice, accompanied by 5 months of epigastric and right upper quadrant pain, dark urine, pale stools, pruritus, and significant weight loss.
Prune belly syndrome (PBS), or Eagle-Barrett syndrome, is a rare congenital disorder marked by abdominal wall muscle deficiency, urinary tract anomalies, and cryptorchidism, causing significant abdominal wall laxity and functional impairment. This case report discusses an innovative approach to abdominal wall reconstruction in a 19-year-old male patient with PBS and associated conditions, including chronic renal failure and spina bifida. Previously, he underwent distal ureterectomy and vesicoureteral reimplantation at the age of two years to correct urinary tract dilation and bilateral orchiopexy.
View Article and Find Full Text PDFPediatr Dermatol
January 2025
Section of Pediatric Dermatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Oral N-acetylcysteine (NAC) has shown efficacy for debilitating habit-driven and neuropsychiatric disorders in small, mostly adult studies. We retrospectively evaluated the therapeutic use and safety of oral NAC in 93 children from the Children's Hospital of Philadelphia. This study supports the use of oral NAC for habit-driven skin, hair, and nail abnormalities in pediatric patients.
View Article and Find Full Text PDFJ Cosmet Dermatol
January 2025
Scientis SA, Geneva, Switzerland.
Background: Skin aging is inevitable. Wrinkles, skin texture abnormalities, senile hyperpigmentation, loss of skin tone, dryness, atrophy, and telangiectasias represent some of the hallmarks of aged skin. Skin rejuvenation can be addressed by topical therapies, such as topical retinoids and antioxidants or physical modalities with energy-based devices, all providing acceptable outcomes.
View Article and Find Full Text PDFOdontogenic cutaneous fistulas are abnormal connections between the oral cavity and skin, often mistaken for skin infections. They typically result from dental infections but may also arise from salivary gland issues, tumors, or congenital anomalies. Accurate diagnosis is essential to prevent complications like infection, osteomyelitis, and discomfort.
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