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Microwave treatment ameliorates beaded eyelid papules caused by lipoid proteinosis.
Pediatr Dermatol
November 2024
Department of Dermatology, The First Hospital of China Medical University, Shenyang, China.
Article Synopsis
- An 8-year-old girl had white bumps on her eyelids caused by lipoid proteinosis, a rare skin condition.
- Microwave therapy was used and led to a significant decrease in these eyelid lesions.
- The case also identified two new genetic variants in the ECM1 gene, which is linked to this condition.
Article Synopsis
- Lipoid proteinosis (LP) is a rare genetic skin condition that leads to the buildup of abnormal material in various tissues, affecting the skin, mucosa, and internal organs.
- An 11-year-old girl with LP showed multiple symptoms, including skin lesions, unusual papules on her eyelids, voice changes, and swelling in her jaw.
- The case emphasizes the need for early diagnosis and treatment due to the diverse and serious effects of LP on multiple body systems.
Lipoid proteinosis; a rare pathology, requiring multidisciplinary input.
BMJ Case Rep
November 2023
Ophthalmology, Alder Hey Children's NHS Foundation Trust, Liverpool, UK.
A male patient in his early childhood presented to rheumatology with a hoarse voice and recurrent oral and cutaneous ulceration. Serological investigation revealed persistently elevated inflammatory markers. Despite compliance to treatment, flare-ups persisted, prompting the use of further treatment.
View Article and Find Full Text PDFLipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated Arab families.
Pediatr Dermatol
January 2023
Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.
Article Synopsis
- Lipoid proteinosis (LP) is a rare genetic disorder caused by mutations in the ECM1 gene, leading to symptoms like hoarseness, skin lesions, and neuropsychological issues.
- Researchers conducted clinical evaluations and genetic testing on eight patients from four unrelated Arab families, identifying two new ECM1 variants and two known variants.
- The study highlights intrafamilial differences in patient symptoms while confirming that exon 6 is a common site for mutations in the ECM1 gene.
Oral Manifestations and Dental Management Considerations of Lipoid Proteinosis: A Case Report and Review of Literature.
J Dent (Shiraz)
September 2022
Pediatric Dentistry Resident, School of Dentistry, Kerman University of Medical Sciences, Kerman, Iran.
Article Synopsis
- Lipoid proteinosis (LP) is a rare congenital disorder causing hyaline material buildup in different organs, leading to varied symptoms from mild skin lesions to severe issues like laryngeal obstruction.
- A case study highlighted a 10-year-old boy with symptoms including skin lesions, hoarseness, and unusual eyelash growth, along with progressive hearing loss, which is not typically associated with the condition.
- The boy's dental treatment focused on preventive care due to restricted mouth opening, and while there's no cure for LP, early diagnosis can help manage complications and improve quality of life.
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