Six cases of ectodermic dysplasia were observed in children of a black family. The different forms include dental abnormalities and a particular pilar dysplasia in black subjects. Ectodermic dysplasia is transmitted recessively on the X chromosome.
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Pediatr 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.
View Article and Find Full Text PDFIndian J Plast Surg
December 2024
Department of Plastic, Hand and Reconstructive Microsurgery, Ganga Hospital, Coimbatore, Tamil Nadu, India.
Postaxial polydactyly (PAP) in the form of rudimentary soft tissue masses is quite common. Management involves ligation or surgical excision. Rarely do literature discussions cover complex variants in which the extra finger is fully developed.
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