Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa [PDF]
American Journal of Ophthalmology Case Reports, 2019 Purpose: To report a case of keratoglobus in a patient with autosomal recessive (AR) cutis laxa. Observations: A 38 year old male presented with decreased vision in both eyes uncorrectable with spectacles and a history of corneal rupture in the left eye ...
Thomas F. Mauger +3 more
doaj +2 more sources
Acquired localized cutis laxa: A case report and the role of plastic surgery
Indian Journal of Dermatology, 2019 Cutis laxa is an uncommon connective tissue disorder affecting the elastin fibers leading to lax and pendulous skin and in generalized form can present with systemic involvement.
Guru Prasad Reddy +2 more
doaj +2 more sources
Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations. [PDF]
Genes (Basel), 2021 Hereditary disorders of connective tissue (HDCT) compromise a heterogeneous group of diseases caused by pathogenic variants in genes encoding different components of the extracellular matrix and characterized by pleiotropic manifestations, mainly ...
Verlee M +9 more
europepmc +4 more sources
A Japanese Case of Lenz‐Majewski Syndrome With a Novel PTDSS1 Variant
Molecular Genetics & Genomic MedicineBackground Lenz‐Majewski syndrome (LMS) is a rare genetic disorder characterized by osteosclerosis, intellectual disability, characteristic facies, and distinct craniofacial, dental, cutaneous, and distal‐limb anomalies.
Yasuko Kobari +8 more
doaj +2 more sources
Dermatolysis (Cutis Laxa) [PDF]
Proceedings of the Royal Society of Medicine, 1943 J. E. M. Wigley
openalex +4 more sources
Cutis laxa congénital: à propos d’un cas [PDF]
The Pan African Medical Journal, 2019 Les « cutis laxa » (CL) sont des affections rares du tissu élastique, caractérisées par une hyperlaxité cutanée. Elles peuvent être congénitales ou acquises.
Aziza El Ouali +3 more
doaj +2 more sources
FBLN5-Related Cutis Laxa Syndrome: A Case with a Novel Variant and Review of the Literature. [PDF]
Mol Syndromol, 2023 Tekmenuray-Unal A, Durmaz CD.
europepmc +3 more sources
Congenital cutis laxa syndrome: type II autosomal recessive inheritance [PDF]
The Turkish Journal of Pediatrics, 2003 Cutis laxa is a term that refers to markedly loose skin that is not hyperelastic. It is regarded as a genetically heterogeneous group of diseases and is presently divided into five types.
Beyhan Tüysüz +4 more
doaj +2 more sources
Case Report: <i>de novo</i> in-frame deletion in <i>PLCG2</i> gene: a case report of B-cell lymphopenia, pulmonary bullae, and cutis laxa. [PDF]
Front ImmunolWu X, Zhang J, Shen M.
europepmc +3 more sources
Cutis Laxa—Clinically Decoding the Complex Genodermatoses [PDF]
Indian Dermatology Online JournalKumari Ritu +4 more
doaj +2 more sources