Cutaneous manifestations of cystic fibrosis

Smith, Aaron D.; Schwartzman, Gabrielle; Lyons, Catherine E.; Flowers, Hal; Albon, Dana; Greer, Kenneth; Lonabaugh, Kevin; Zlotoff, Barrett J.

doi:10.1016/j.jaad.2024.04.052

Cited by 3 publications

(1 citation statement)

References 96 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Congenital bilateral absence of vas deferens Azoospermia Infertility [18] Skin and skin appendages Sweat glands Salty sweat Dehydration [19] Skeletal Bones Osteopenia Osteoporosis [20] Joints CF-related arthropathy [20] Pulmonary impairment is considered the primary clinical manifestation of CF, and respiratory failure is the most common cause of death in CF patients [3]. Ionic imbalance and the hyperviscosity of the respiratory mucus result in decreased mucociliary clearance and promote bacterial colonization and local inflammation.…”

Section: Organ System Affected Organ Manifestation Referencesmentioning

confidence: 99%

Ocular Changes in Cystic Fibrosis: A Review

Liberski,

Confalonieri,

Cofta

et al. 2024

IJMS

View full text Add to dashboard Cite

Cystic fibrosis (CF), also known as mucoviscidosis, is the most common autosomal recessive genetic disease in the Caucasian population, with an estimated frequency of 1:2000–3000 live births. CF results from the mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene localized in the long arm of chromosome 7. The product of CFTR gene expression is CFTR protein, an adenosine triphosphate (ATP)-binding cassette (ABC) transporter that regulates the transport of chloride ions (Cl−) across the apical cell membrane. Primary manifestations of CF include chronic lung and pancreas function impairment secondary to the production of thick, sticky mucus resulting from dehydrated secretions. It is well known that CF can cause both anterior and posterior ocular abnormalities. Conjunctival and corneal xerosis and dry eye disease symptoms are the most characteristic manifestations in the anterior segment. In contrast, the most typical anatomical and functional changes relating to the posterior segment of the eye include defects in the retinal nerve fiber layer (RNFL), vascular abnormalities, and visual disturbances, such as reduced contrast sensitivity and abnormal dark adaptation. However, the complete background of ophthalmic manifestations in the course of CF has yet to be discovered. This review summarizes the current knowledge regarding ocular changes in cystic fibrosis.

show abstract