Autosomal dominant hyper-IgE syndrome (AD-HIES) is an inborn error of immunity (IEI) caused by a dominant-negative mutation in the signal transducer and activator of transcription 3 (STAT 3). This disease is characterized by chronic eczematoid dermatitis, recurrent staphylococcal skin abscesses, pneumonia, pneumatoceles, and extremely high serum IgE levels. Loss-of-function STAT3 mutations may also result in distinct non-immunologic features such as dental, facial, skeletal, and vascular abnormalities, central nervous system malformations and an increased risk for bone fractures. Prophylactic treatment of Candida infections and prophylactic antimicrobial therapy for staphylococcal skin infections and sinopulmonary infections are essential. An awareness of the oral and maxillofacial features of HIES may facilitate early diagnosis with genetic counselling and may improve future patient care. This study describes oral, dental, and maxillofacial manifestations in 14 patients with genetically defined AD-HIES. We also review the literature and propose recommendations for the complex care of patients with this rare primary immunodeficiency.

• Klíčová slova
• dentist, hyper-IgE syndrome, intraoral, maxillofacial,
• Publikační typ
• časopisecké články MeSH

A detailed understanding of craniofacial ontogenetic development is important in a variety of scientific disciplines dealing with facial reconstruction, forensic identification, ageing prediction, and monitoring of pathological growth, including the effect of therapy. The main goals of this study were (1) the construction of the facial aging model using local polynomial regression fitting separately for both sexes, (2) evaluation of the aging effect not only on facial form as a whole but also on dimensions important for clinical practice, and (3) monitoring of the development of shape facial sexual dimorphism. Our study was based on the form and shape analysis of three-dimensional facial surface models of 456 individuals aged 14-83 years. The facial models were obtained using a structured light-based optical scanner and divided (for some analyses) into four age categories (juveniles, young adults, middle adults, and elderly adults). The methodology was based on geometric and classic morphometrics including multivariate statistics. Aging in both sexes shared common traits such as more pronounced facial roundness reducing facial convexity, sagging soft tissue, smaller visible areas of the eyes, greater nose, and thinner lips. In contrast to female faces, male faces increase in size until almost 30 years of age. After the age of 70, male facial size not only stagnates, like in females, but actually decreases slightly. Sexual dimorphic traits tended to diminish in the frontal and orbitonasal areas and increase in the gonial area.

• MeSH
• dospělí MeSH
• lidé MeSH
• mladý dospělý MeSH
• nos MeSH
• obličej * MeSH
• oči MeSH
• pohlavní dimorfismus * MeSH
• senioři MeSH
• stárnutí MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH