Gastrointestinal Xanthomas and Ichthyosis: A Mild Phenotype of CHILD Syndrome (NSDHL Gene Mutation).

Am J Gastroenterol

Division of Gastroenterology, Prisma Health, Greenville, South Carolina, USA .

Published: October 2024

Download full-text PDF

Source
http://dx.doi.org/10.14309/ajg.0000000000003138DOI Listing

Publication Analysis

Top Keywords

gastrointestinal xanthomas
4
xanthomas ichthyosis
4
ichthyosis mild
4
mild phenotype
4
phenotype child
4
child syndrome
4
syndrome nsdhl
4
nsdhl gene
4
gene mutation
4
gastrointestinal
1

Similar Publications

Gastrointestinal (GI) diseases can present with several extraintestinal manifestations, and cutaneous signs and symptoms are most frequent. Although conventionally GI and skin are considered two entirely separate organ systems, they are closely correlated in origin. An increasing amount of data highlights the complex relationship between GI and dermatological conditions.

View Article and Find Full Text PDF
Article Synopsis
  • Xanthogranulomatous cholecystitis is a rare chronic inflammatory condition of the gallbladder that can lead to serious complications like perforation and fistulas.
  • A young female patient experienced recurrent cholecystitis and had a history of jaundice due to gallstones, leading to a required elective surgery after her initial admission.
  • During laparoscopic surgery, significant complications and abnormalities were found, highlighting the importance of timely surgeries to prevent more severe issues in patients with acute cholecystitis.
View Article and Find Full Text PDF
Article Synopsis
  • * They are made up of foamy histiocytes and, while generally benign, may be linked to precancerous conditions and can resemble cancerous growths.
  • * A case report details a 74-year-old woman with stomach pain, where endoscopy revealed gastric xanthomas, highlighting the need for careful diagnosis due to their association with gastric diseases.
View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!