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"Cutis laxa" (CL) are rare elastic tissue disorders characterized by loose, sagging skin. They can be a congenital or acquired condition. Inherited cutis laxa is a heterogeneous group of disorders characterized by the severity of their visceral involvement and by their mode of transmission. Three groups have been identified on the basis of their genetic transmission: autosomal dominant, recessive autosomal, X-linked recessive. The severity of the visceral involvement affects the prognosis of inherited CL which is potentially fatal in the short term in patients with cardiac or pulmonary involvement. This study aims to remind clinicians of this rare affection through direct observation of an infant being followed-up for respiratory distress sixteenth days after birth.
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http://dx.doi.org/10.11604/pamj.2019.34.195.17110 | DOI Listing |
Ophthalmic Plast Reconstr Surg
March 2025
Department of Ophthalmology, University of California, San Francisco, San Francisco, California, U.S.A.
We report a case of a 66-year-old woman with 8 years of progressive bilateral periorbital fullness, eyelid edema, and skin laxity. She had a history of thyroid cancer, smoldering myeloma, and systemic amyloidosis. The exam demonstrated significant bilateral periorbital fullness with mild limitation of extraocular motility in all directions bilaterally without double vision.
View Article and Find Full Text PDFOrphanet J Rare Dis
March 2025
Rheumatology Unit, Azienda Ospedaliero Universitaria Pisana and Department of Clinical and Experimental Medicine, University of Pisa, ERN ReCONNET, Via Roma 67, Pisa, Italy.
Background: Rare and complex diseases can have a significant impact on family life, and managing the reproductive aspects of patients of childbearing age with rare diseases is often difficult and complex. A European Reference Network (ERN) Transversal Working Group (WG) on Pregnancy and Family Planning was created to join forces to promote and address issues on these topics in rare and low-prevalence diseases.
Objective: To outline the challenges and the good practices related to pregnancy and family planning in rare and complex diseases for healthcare professionals (HCPs).
Cureus
February 2025
Medical Genetics, Vanderbilt University Medical Center, Nashville, USA.
A nine-month-old male was referred with short stature, tortuosity in multiple arteries, pulmonary stenosis, and multiple fractures. Trio exome sequencing (ES) revealed a c.275_277delinsTT, p.
View Article and Find Full Text PDFCornea
March 2025
Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.
Purpose: Congenital cutis laxa (CL) syndromes encompass a diverse group of inherited connective tissue disorders characterized by redundant, wrinkled, and inelastic skin, often with systemic involvement. Ocular involvement in CL has sporadically been reported albeit without systematic, comprehensive ocular assessment. The purpose of this study was to evaluate the ocular phenotype in an established cohort of patients with CL with a particular emphasis on corneal involvement.
View Article and Find Full Text PDFClin Case Rep
March 2025
Department of Pediatrics NIMS Jaipur India.
Cutis laxa is a genetically heterogeneous disorder characterized primarily by loose, redundant skin with abnormal wrinkling and elasticity. It is an exceptionally rare condition, with an estimated prevalence of < 1 in 1,000,000 individuals. In addition to the distinctive cutaneous manifestations, cutis laxa can present with a constellation of other features, including progeroid appearance, growth retardation, and developmental delays.
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