Four boys with common ichthyosis, generalized epileptic fits and probable hypogonadotropic hypogonadism are expounded upon. They are diagnosed as having the Rud syndrome. Under the neurological aspect, the absence of risk to develop posterior epilepsy as a feature of the syndrome, with the exception of the one suggested by the symptomatology of the fits and/or alterations of the EEG is noteworthy in our patients. The intellectual quotient (Weschller children's test) in found to be within normal limits. We have observed the coincidence of the Lennox syndrome of the most serious cutaneous type with the worst evolution. The gonadotropins did not respond to the stimulus with their hypothalamic hormone and we recommend an endocrinologic study of these boys at the puberal age, for the purpose of establishing, if necessary, treatment for their gonadal deficit.
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Pediatr Dermatol
November 2024
Department of Dermatology, University of Missouri-Columbia, Columbia, Missouri, USA.
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, conductive hearing loss, and epilepsy (CHIME) syndrome is a rare autosomal recessive neuroectodermal disorder caused by PIGL gene mutations. There is emerging literature to support the use of interleukin-17 (IL-17) antagonists in the treatment of certain ichthyosiform dermatoses. Here, we report a case of severe ichthyosiform dermatosis in a child with CHIME syndrome who was recalcitrant to multiple topical medications and dupilumab.
View Article and Find Full Text PDFMol Genet Metab
February 2024
The Children's Hospital of Philadelphia, Division of Human Genetics and Metabolism, Colket Translational Research Building, 3501 Civic Center Blvd, Philadelphia, PA 19104, USA; University of Pennsylvania, Perelman School of Medicine, Department of Pediatrics, Philadelphia, PA 19104, USA. Electronic address:
Mol Genet Genomic Med
December 2023
Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya, Kuwait.
Front Genet
June 2023
Department of Pediatrics, Second Affiliated Hospital of Shantou University Medical College, Shantou, China.
Orphanet J Rare Dis
December 2022
Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, 75015, Paris, France.
Background: Preliminary data suggest that COVID-19 pandemic has generated a switch from face-to-face to remote care for individuals with chronic diseases. However, few data are available for rare and undiagnosed diseases (RUDs). We aimed to assess the impact of the COVID-19 pandemic on the activities of the French reference network for RUDs in 2020.
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