Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome-a complex, pleiotropic disorder resulting in multiple congenital anomalies-has an unpredictable clinical expression and is typically manifested as an autosomal-dominant trait. This article presents a rare case of oligosymptomatic EEC syndrome in a 19-year-old man who exhibited atypical dental findings but no cleft lip or palate. This article is intended to create awareness about this rare syndrome and highlight the role of oral healthcare specialists in improving the quality of life for patients with EEC.

Download full-text PDF

Source

Publication Analysis

Top Keywords

ectrodactyly-ectodermal dysplasia-cleft
8
oral health
4
health considerations
4
considerations patient
4
patient oligosymptomatic
4
oligosymptomatic ectrodactyly-ectodermal
4
dysplasia-cleft syndrome
4
syndrome ectrodactyly-ectodermal
4
dysplasia-cleft eec
4
eec syndrome-a
4

Similar Publications

Article Synopsis
  • A male newborn was found to have low TREC values, indicating T cell lymphopenia, and genetic testing revealed a mutation linked to Ectrodactyly-Ectodermal Dysplasia-Cleft lip/palate syndrome (EEC).
  • This case underscores the importance of further research on the immune system issues related to mutations in the TP63 gene, suggesting that patients with such mutations should undergo thorough immunological assessments.
View Article and Find Full Text PDF
Article Synopsis
  • - Ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome affects ectodermal and mesodermal tissues, leading to issues like split hands/feet, ectodermal dysplasia, and orofacial clefting, requiring a multidisciplinary treatment approach.
  • - A case study details a young child with EEC syndrome who developed a peripheral giant cell granuloma (PGCG) in the lower jaw, which was surgically removed and followed up for 24 months with no recurrence.
  • - The findings emphasize the crucial role of dentists in diagnosing and managing oral health issues associated with EEC syndrome.
View Article and Find Full Text PDF
Article Synopsis
  • * The study aims to determine the period prevalence rates for common EDs using a large database of electronic health records, which provides more comprehensive data for understanding these rare disorders.
  • * Researchers calculated prevalence rates for several EDs, revealing rates like 2.99 per 100,000 for hypohidrotic ectodermal dysplasia, indicating a significant but still low occurrence of these conditions.
View Article and Find Full Text PDF

Ectodermal dysplasia and cholesteatoma: A cross-sectional analysis of otologic issues.

Int J Pediatr Otorhinolaryngol

August 2024

Department of Otolaryngology-Head and Neck Surgery, Cleveland Clinic Head and Neck Institute, Cleveland, OH, USA. Electronic address:

Article Synopsis
  • This study examines the link between cleft palate and cholesteatoma risk in patients with ectodermal dysplasia types (EDT-ACPs), which has not been extensively analyzed before.
  • Researchers conducted an online survey involving individuals with specific disorders related to ectodermal dysplasia, achieving a low response rate of 18% with 65 participants.
  • The findings reveal a significantly higher incidence of cholesteatoma (39%) in participants with a history of cleft palate compared to those without (13%), indicating a unique risk factor for those with EDT-ACPs that requires attention for early diagnosis and treatment to prevent serious complications like hearing loss.
View Article and Find Full Text PDF
Article Synopsis
  • TP63-related disorders involve various symptoms like sparse hair, tooth issues, and cleft lip/palate, linked to mutations in the TP63 gene.
  • These disorders include overlapping conditions such as AEC syndrome and EEC3 syndrome, which were diagnosed in patients from five unrelated families.
  • Genetic analysis of the TP63 gene revealed multiple variants, indicating a strong genetic link to the observed symptoms, and should prompt doctors to consider these disorders when they see signs of ectodermal abnormalities or clefting.
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!