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Trends in pulmonary function in patients with Birt-Hogg-Dubé syndrome: a retrospective cohort study.
Eur Clin Respir J
January 2025
Department of Respiratory Medicine, Odense University Hospital, Odense, Denmark.
Background: Birt-Hogg-Dubé syndrome (BHD), a rare genetic disease characterized by multiple pulmonary cysts, can lead to spontaneous pneumothorax, cutaneous hamartomas, renal cysts, and renal cell cancer. The overall aim of this study was to assess clinical characteristics of patients with BHD-emphasizing on trends in pulmonary function patterns.
Methods: By use of data from electronic patient journals, we conducted a retrospective cohort study on clinical characteristics and pulmonary function tests (PFT) from patients with BHD, who were clinically followed-up in a Danish tertiary referral center for rare and interstitial lung diseases.
Cowden Syndrome and Oral Lesions: A Case Report Using MLPA.
Am J Case Rep
January 2025
Research Institute of Dentistry, Department of Integral Dental Clinics, University Center of Health Sciences, Universidad de Guadalajara, Guadalajara, Mexico.
BACKGROUND Cowden syndrome is a genetic disorder that predisposes individuals to cancer and is characterized by hamartomas derived from 3 germ layers. Although the clinical signs can be pathognomonic, diagnosis is often aided by biopsies, histopathological examination of oral and cutaneous lesions, and genetic studies, including multiple ligation-dependent probe amplification (MLPA). CASE REPORT We report a case of a 35-year-old woman who manifested with multiple lesions in the buccal mucosa, dorsum of the tongue, and gums, along with papillomatous papules on her facial skin and the dorsal surfaces of her hands.
View Article and Find Full Text PDFUltrasound Pattern of Congenital Smooth Muscle Hamartoma of the Skin.
J Ultrasound Med
December 2024
Department of Dermatology, Faculty of Medicine, Universidad de Chile, Santiago, Chile.
Smooth muscle hamartoma (SMH) of the skin is a cutaneous benign proliferation of mature smooth muscle. Congenital SMH (CSMH) of the skin represents the most frequent type, and to date, there are no reports on its ultrasonographic pattern. A retrospective study of the color Doppler ultrasound (US) images of six CSMH patients at high and ultra-high frequencies was performed.
View Article and Find Full Text PDFLocalised apolipoprotein A-I amyloidosis arising in a fibroadnexal hamartoma in a dog.
Vet Dermatol
December 2024
Department of Biomedical and Diagnostic Sciences, University of Tennessee, College of Veterinary Medicine, Knoxville, Tennessee, USA.
Canine apolipoprotein A-I (ApoA-I) amyloidosis has only been reported as an age-related pulmonary vascular condition. In this report, the authors identified cutaneous ApoA-I amyloidosis within a fibroadnexal hamartoma in a dog. Based on proteomic analysis using mass spectrometry, the mechanism of ApoA-I amyloidogenesis is discussed.
View Article and Find Full Text PDFReview of encephalocraniocutaneous lipomatosis.
Semin Pediatr Neurol
December 2024
Dell Medical School, The University of Texas at Austin, Austin, TX, USA. Electronic address:
Article Synopsis
- Encephalocraniocutaneous lipomatosis (ECCL), or Haberland syndrome, is a rare condition affecting the skin, central nervous system, and eyes, characterized by tumors and other abnormalities.
- Key symptoms include specific skin lesions, subcutaneous lipomas, and neurological issues like intracranial lipomas and developmental delays.
- Diagnosis primarily relies on clinical evaluation with possible genetic testing; management is multidisciplinary, focusing on symptom relief and monitoring for potential complications.
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