Results 61 to 70 of about 5,906 (226)
Journal of Experimental and Clinical Medicine, 2011 ABSTRACT Cutis laxa is an uncommon disorder characterized clinically laxitiy of the skin, which hangs in loose folds, by the loss of dermal elastic tissue. We report a case only neck localized of cutis laxa that no systemic involvement was diagnosed. The skin laxity was preceded by episodes of itching and swelling on her neck. When the patient applied
TUNCEL, Umut +3 more
openaire +5 more sources
Clinical Case Reports, Volume 13, Issue 9, September 2025.ABSTRACT Congenital disorders of glycosylation (CDG) are a heterogeneous group of inherited metabolic diseases (IMD) characterized by defects in the synthesis and modification of glycoproteins and glycolipids. One of these disorders is ATP6AP1‐CDG, a rare X‐linked disease with approximately 30 cases reported so far. Symptoms associated with ATP6AP1‐CDG
Amirreza Jabbaripour Sarmadian +4 more
wiley +1 more source
Cutis laxa with pulmonary artery stenosis
Indian Dermatology Online Journal, 2012 Krina B Patel, Ruchin Patel
doaj +4 more sources
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin [PDF]
, 2017 To identify the disease-causing gene responsible for an autosomal dominantly inherited Charcot-Marie-Tooth neuropathy subtype in a family excluded for mutations in the common Charcot-Marie-Tooth genes, we used array-based sequence capture to ...
Auer-Grumbach, Michaela +16 more
core
Linear Focal Elastosis: A Peculiar Dermatosis
Clinical Case Reports, Volume 13, Issue 9, September 2025.LFE confirmed by orcein stain showing fragmented elastic fibers within the reticular dermis. ABSTRACT Linear focal elastosis (LFE), also known as elastotic striae, is a rare cutaneous condition characterized by abnormal or increased deposition of elastic fibers in the dermis.
Adnan Ahmad +3 more
wiley +1 more source
Anesthesia Management in Rare Case: Cutis Laxa Syndrome
Archives of Anesthesia and Critical Care, 2015 Cutis laxa is rare and hetrogenous group of disorders related to abnormalities in elastic tissue. It may be autosomal recessive, autosomal dominant, X linked or acquired.
Anahid Maleki +5 more
doaj
Magnetic Resonance in Medicine, Volume 94, Issue 2, Page 771-784, August 2025.Abstract Purpose The aim is to establish the relationship between carotid susceptibility and microstructural components in diseased carotid arteries. Methods Excised cadaveric carotid arteries (n = 5) were scanned using high‐resolution QSM at 7 Tesla. After ex vivo imaging, all samples were brought to histology and stained for elastin, collagen, cells,
Alan J. Stone +4 more
wiley +1 more source
Autosomal recessive cutis laxa type-1 with complex systemic manifestations
Indian Journal of Paediatric Dermatology, 2018 Cutis laxa (CL) is a rare connective tissue disorder characterized by loose, sagging, and redundant skin. Both inherited and acquired forms are known. A 7-year-old boy, presented with loose, sagging skin chiefly over the face, extremities, and skin folds
Shruti Dhanraj Chavan +4 more
doaj +1 more source
, 2020 Arterial tortuosity syndrome (ATS) is a recessively inherited connective tissue disorder, mainly characterized by tortuosity and aneurysm formation of the major arteries.
Barnhoorn, Sander +14 more
core +1 more source
Expanded carrier screening: A current perspective [PDF]
, 2018 Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb +12 more
core +1 more source