Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is an autosomal dominant inherited disorder of the skin, which manifests as recurrent blistering, punctate palmo-plantar hyperkeratoses, and mottled pigmentation of the trunk and extremities. Previous reports have identified the P25L mutation within the non-helical V1 domain of keratin 5 as the unique cause of the disease. We found this mutation in the first Italian case of EBS-MP. The proband was heterozygous for the P25L mutation, which occurred de novo as this change was not detected in the peripheral blood DNA of the healthy parents. Our report extends the limited number of EBS-MP cases and gives further evidence that mutation P25L is responsible for this unusual phenotype.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Expression and Analysis of Gene in the Skin from Three Locations on Dun Mongolian Bider Horse.
Genes (Basel)
December 2024
Inner Mongolia Key Laboratory of Equine Science Research and Technology Innovation, Inner Mongolia Agricultural University, Hohhot 010018, China.
Background/objectives: The Mongolian horse, one of the oldest and most genetically diverse breeds, exhibits a wide variety of coat colors and patterns, including both wild-type and unique features. A notable characteristic of dun Mongolian horses is the presence of Bider markings-symmetrical, black-mottled patterns observed on the shoulder blades. These markings are also seen in Przewalski's horses.
View Article and Find Full Text PDFPosterior segment findings in a patient with a biallelic pathogenic variant.
Am J Ophthalmol Case Rep
December 2024
Genomic Laboratory, Umraniye Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.
Article Synopsis
- A 25-year-old man diagnosed with retinitis pigmentosa (RP) showed distinct posterior segment abnormalities during examination, including bone spicule pigmentation and retinal atrophy.
- Findings from advanced imaging techniques like optical coherence tomography (OCT) revealed unique wavy protrusions on the inner retinal surface, leading to non-cystic petaloid maculopathy and changes in choroidal thickness.
- The patient's condition not only highlighted the retinal involvement linked to a genetic variant but also raised concerns about potential syndromic associations, including a major depressive disorder requiring hospitalization.
Retinopathy in Mucopolysaccharidoses.
Ophthalmology
November 2024
Manchester Royal Eye Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom; School of Biological Sciences, Medicine and Health, The University of Manchester, Manchester, United Kingdom. Electronic address:
Purpose: To determine the pattern(s) of onset, variation, and progression of retinopathy in patients with Mucopolysaccharidosis (MPS).
Design: Prospective, longitudinal, observational study.
Participants: Between November 2015 and March 2023, individuals with MPS were recruited from Ophthalmology clinics at the Manchester Royal Eye Hospital, United Kingdom.
Rheumatic fever and long-term use of benzathine penicillin as possible risk factors for extensive macular atrophy with pseudodrusen in a Brazilian cohort.
Int J Retina Vitreous
October 2024
Hospital De Olhos Do Paraná, 483, Presidente Taunay St. Alameda Presidente Taunay, 483 Batel, Curitiba, CEP 80420-180, PR, Brazil.
Article Synopsis
- - The study investigated the correlation between rheumatic fever (RF) history and benzathine penicillin (BP) treatment with extensive macular atrophy with pseudodrusen (EMAP) in Brazilian patients through a retrospective, observational case-control approach.
- - Out of 77 patients (66.2% women, average age 58.6), a significant majority had a history of RF (90.9%) and BP treatment (94.8% starting at an average age of 7.3 years with an 11.8-year duration).
- - Results showed that longer BP treatment duration was linked to a decrease in atrophic area, while older age at RF diagnosis influenced the likelihood of subretinal dr
Myositis: A Rare First Presentation of Systemic Lupus Erythematosus.
Cureus
September 2024
Nephrology, Al-Karama General Hospital, Baghdad, IRQ.
Article Synopsis
- * This case report details an 18-year-old female patient whose SLE first presented with generalized muscle weakness, joint pain, and distinctive rashes indicative of lupus and vasculitis.
- * After extensive testing, she was diagnosed and treated with a combination of medications, leading to significant improvement in her symptoms and muscle strength over time.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!