Ectodermal dysplasia describes a group of disorders that involve abnormal development of ectodermal tissue, including hair, teeth, and sweat glands. This report presents a case of a child affected by ectodermal dysplasia presenting as abnormal teeth development. Social determinants of health, including recent immigration from an underserved area and lack of funds, have limited this child from an earlier diagnosis and have formed barriers to access proper oral rehabilitation.
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http://dx.doi.org/10.7759/cureus.26806 | DOI Listing |
J Orthop Case Rep
January 2025
Department of Orthopaedic Surgery, The Lifeline Multi Speciality Hospital, Kerala, India.
Introduction: Ellis-van Creveld syndrome (EVC) is a rare autosomal recessive disorder characterized by growth retardation, dysplastic nails, cardiac defects, dental abnormalities, and polydactyly. Early diagnosis and multidisciplinary management are essential for improving patient outcomes.
Case Report: We present a case of a 12-year-old male with EVC, born to consanguineous parents, who presented with bilateral bowing of the legs and difficulty walking.
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.
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