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Focal dermal hypoplasia (Goltz syndrome) with concurrent growth hormone deficiency and response to therapy.
BMJ Case Rep
November 2024
Endocrinology, Nizam's Institute of Medical Sciences, Hyderabad, India
A toddler presented with failure to thrive and dysmorphic features since birth. On examination, she was found to have a cleft lip, syndactyly, hypopigmented patchy skin lesions and patchy alopecia. The baseline haematological evaluation was normal.
View Article and Find Full Text PDFNeurocutaneous disorders identified in the neonatal period and infancy: Hypomelanosis of Ito.
Semin Pediatr Neurol
October 2024
Division of Child Neurology, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University, Columbus, OH, USA. Electronic address:
Article Synopsis
- Hypomelanosis of Ito is a rare skin disorder identified by hypopigmented lesions that follow specific lines (Blaschko lines) on the skin, first described by Minoru Ito in 1952.
- The disorder can lead to various health issues beyond the skin, including neurological problems like cognitive impairment, seizures, and developmental delays, along with musculoskeletal, cardiac, endocrine, and renal symptoms.
- The review focuses on the clinical features of Hypomelanosis of Ito, how it’s diagnosed, and provides recommendations for consensus in managing the condition.
A novel pathogenic variant in the KCTD7 gene in a patient with neuronal ceroid lipofuscinosis (CLN14): a case report and review of the literature.
BMC Neurol
September 2024
Faculty of Medicine, Islamic University of Gaza, P.O. Box 108, Gaza, State of Palestine.
Article Synopsis
- * A nine-month-old boy displayed symptoms like psychomotor regression, vision loss, and seizures, ultimately leading to his death at 44 months due to complications from his condition, with genetic testing revealing a novel variant in the KCTD7 gene.
- * This case contributes to the limited understanding of CLN14 and highlights the potential for genetic testing to identify more cases and variations in symptoms associated with NCL.
How many is too many? A review of the significant numbers in pediatric skin lesions and their recommended evaluation.
Pediatr Dermatol
November 2024
Department of Dermatology, Columbia University, New York, New York, USA.
Article Synopsis
- Pediatric dermatologists help check kids' skin for signs that might mean there are other health problems.
- They use special numbers to figure out which skin issues are more likely to be linked to serious conditions.
- The review talks about different skin signs like hemangiomas and moles and explains how they can help doctors make better decisions about treatment.
Evaluation of the clinical, biochemical, and molecular spectrum of Cobalamin C (CblC) defect in 33 patients from Pakistan.
Scand J Clin Lab Invest
October 2024
Quantitative Biomedical Research Center, Peter O'Donnell School of Public Health, UT Southwestern, TX, USA.
Article Synopsis
- Cobalamin C defect, caused by pathogenic variants in the MMACHC gene, disrupts vitamin B12 metabolism, leading to high homocysteine and low methionine levels in patients.
- A study at AKUH analyzed 33 Pakistani patients, revealing a median age of symptom onset at 300 days and common issues like cognitive impairment and seizures.
- Gene analysis showed a predominant pathogenic variant, highlighting late diagnoses and the need for better awareness and diagnostic resources in Pakistan.
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