Clinical variant of ablepharon macrostomia syndrome.

Case Rep Dermatol Med

Pediatric Dentistry, Nova Southeastern University, 3200 S University Drive, Fort Lauderdale, FL 33328, USA.

Published: December 2012

AI Article Synopsis

  • Ablepharon syndrome is a rare genetic disorder characterized by significant craniofacial deformities and various abnormalities affecting the face, genitalia, and skin.
  • The available literature on this condition is limited, highlighting a gap in knowledge within the medical community.
  • This case report introduces dental manifestations of Ablepharon syndrome, which have not been previously documented, aiming to enhance awareness among dental professionals.

Article Abstract

Ablepharon syndrome is an extremely rare genetic problem that causes severe craniofacial deformities and numerous other abnormalities of the face, genitalia, and skin. The literature regarding this condition is scarce. We present a case of this syndrome with dental manifestations, not reported before, and discuss its characteristics in order to increase the knowledge of this condition among the dental profession.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3504267PMC
http://dx.doi.org/10.1155/2011/593045DOI Listing

Publication Analysis

Top Keywords

clinical variant
4
variant ablepharon
4
ablepharon macrostomia
4
macrostomia syndrome
4
syndrome ablepharon
4
ablepharon syndrome
4
syndrome extremely
4
extremely rare
4
rare genetic
4
genetic problem
4

Similar Publications

Pyoderma Gangrenosum Improved with Dapsone and Prednisone: A Case Report.

Adv Skin Wound Care

January 2025

Arbie Sofia P. Merilleno, MD, DPDS, is an Inflammatory Disease Fellow, University of Toronto, Ontario, Canada; Clinical Fellow, Women's College Hospital, Ontario; and Research Fellow, Women's College Research Institute, Ontario. Charlene Marie Ang-Tiu, MD, FPDS, is Medical Specialist, Rizal Medical Center, Pasig City, Philippines.

Pyoderma gangrenosum is a rare ulcerative condition that poses diagnostic and therapeutic challenges. Diagnosis and appropriate management are often delayed due to its rarity and the presence of numerous clinical variants. In this case report, the authors present the case of a 36-year-old man who had long-standing and nonhealing ulcers that did not respond to multiple antibiotics and serial wound debridement.

View Article and Find Full Text PDF

Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is a neurodegenerative disease caused by mutations in the gene encoding transthyretin (TTR). Despite amyloid deposition being pathognomonic for diagnosis, this pathology in nervous tissues cannot fully account for nerve degeneration, implying additional pathophysiology for neurodegeneration, which, however, has not yet been fully elucidated. In this study, neuroinflammation in ATTRv-PN was investigated by examining nerve morphometry, the blood-nerve barrier, and macrophage infiltration in the sural nerves of ATTRv-PN patients and the sciatic nerves of a complementary mouse system, i.

View Article and Find Full Text PDF

Phenotypic Classification of Multisystem Inflammatory Syndrome in Children Using Latent Class Analysis.

JAMA Netw Open

January 2025

Coronavirus and Other Respiratory Viruses Division, National Center for Immunization and Respiratory Diseases, Centers for Disease Control and Prevention, Atlanta, Georgia.

Importance: Multisystem inflammatory syndrome in children (MIS-C) is an uncommon but severe hyperinflammatory illness that occurs 2 to 6 weeks after SARS-CoV-2 infection. Presentation overlaps with other conditions, and risk factors for severity differ by patient. Characterizing patterns of MIS-C presentation can guide efforts to reduce misclassification, categorize phenotypes, and identify patients at risk for severe outcomes.

View Article and Find Full Text PDF

Genomic profiling at a single center cracks the code in inborn errors of immunity.

Intern Emerg Med

January 2025

Unit of Internal Medicine and Clinical Oncology "G. Baccelli", Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari Aldo Moro Medical School, Bari, Italy.

Inborn errors of immunity (IEI) entail a diverse group of disorders resulting from hereditary or de novo mutations in single genes, leading to immune dysregulation. This study explores the clinical utility of next-generation sequencing (NGS) techniques in diagnosing monogenic immune defects. Eight patients attending the immunodeficiency clinic and with unclassified antibody deficiency were included in the analysis.

View Article and Find Full Text PDF

TTC7A Variants Results in Gastrointestinal Defects and Immunodeficiency Syndrome: Case Series and Literature Review.

Clin Rev Allergy Immunol

January 2025

Department of Neonatal Surgery, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.

Gastrointestinal Defects and Immunodeficiency Syndrome-1 (GIDID-1), caused by abnormalities in TTC7A, is an autosomal recessive disorder characterized by multiple gastrointestinal malformations and immune deficiencies, often accompanied by inflammatory bowel disease (IBD). This condition typically results in poor treatment outcomes and is usually fatal in early infancy. This paper examined the genetic abnormalities and clinical features of GIDID by analyzing data from three children and one fetus with gastrointestinal dysfunction and immune deficiency associated with TTC7A abnormalities at our hospital, and reviewed reported cases worldwide.

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!