Ectodermal dysplasia, a heterogeneous group of rare genetic disorders, is characterized by the aberrant development of ectodermal structures, leading to various clinical anomalies. This case report presents a unique and challenging case of a 33-year-old male with ectodermal dysplasia who underwent Le Fort III advancement and implant rehabilitation surgery to address severe craniofacial and dental deficiencies. This case, characterized by facial dysmorphism, craniofacial anomalies, and the absence of a nasal bone, highlights the complexity of surgical planning required to address these diverse clinical features. The crucial element of this report is the innovative approach to airway management through trans mylohyoid/submental intubation, which successfully navigated the patient's aberrant anatomy. Multidisciplinary collaboration played a pivotal role in achieving a holistic and patient-centered approach. By sharing this case, we aim to provide insights into the nuances of managing complex patients with ectodermal dysplasia, emphasizing the importance of individualized care, innovative techniques, and interdisciplinary teamwork to optimize patient outcomes and contribute to advancing medical knowledge.
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http://dx.doi.org/10.7759/cureus.51504 | DOI Listing |
J Clin Med
December 2024
Department of Oral and Maxillo-Facial Sciences, Sapienza University of Rome, U.O.C. Pediatric Dentistry Unit, 00161 Rome, Italy.
: The orthodontic management of pediatric patients with rare diseases, such as Ectodermal Dysplasia (ED) and Osteogenesis Imperfecta (OI), requires complex protocols due to dental anomalies in both the number and structure of teeth. These conditions necessitate a departure from traditional orthodontic approaches, as skeletal anchoring is often required because of these anomalies. A patient with ED, characterized by hypodontia and malformed teeth, presented with insufficient natural teeth for anchorage.
View Article and Find Full Text PDFPediatr Transplant
February 2025
Division of Stem Cell Transplantation and Regenerative Medicine, Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.
Background: Disseminated mycobacterium poses a significant risk for patients with NEMO deficiency. Hematopoietic stem cell transplant (HSCT) corrects the NEMO defect in hematopoietic cells thus treating the immunodeficiency.
Methods: We present a patient with NEMO deficiency who successfully underwent HSCT despite a disseminated Mycobacterium szulgai infection.
Front Pediatr
December 2024
Department of Ultrasound, Jinan Maternity and Child Care Hospital, Jinan, Shandong, China.
Congenital melanocytic nevus (CMN) syndrome is a rare, non-familial neural ectodermal dysplasia characterized by CMN combined with extracutaneous abnormalities, predominantly involving the central nervous system (CNS). The pathogenesis of CMN syndrome is thought to result from early post-zygotic somatic mutations. CNS melanosis frequently affects the anterior temporal lobes, brainstem, cerebellum, and cerebral cortex.
View Article and Find Full Text PDFBiomedicines
December 2024
Department of Orthodontics, University of Münster, 48149 Münster, Germany.
There is a lack of evidence for the relationship between sweat pores and tooth agenesis. The aim of this study was to compare sweat pore density on fingertips between a group of patients with oligodontia and a control group without tooth agenesis. This parallel-group controlled clinical trial included 28 patients.
View Article and Find Full Text PDFJ Dent Child (Chic)
September 2024
Department of Orthodontics, University of Marburg School of Dentistry, Marburg, Germany.
The purpose of this article is to present three cases of a rare phenomenon called pre-eruptive coronal resorption (PCR), which occurs in teeth with enamel degeneration. In the first case, the enamel defects occurred due to ectodermal dysplasia, which represents the first documented case of a patient with ectodermal dysplasia who underwent PCR. In the other two cases, the enamel defects occurred due to amelogenesis imperfecta.
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