Results 21 to 30 of about 5,906 (226)

Dermatolysis (Cutis Laxa) [PDF]

Proceedings of the Royal Society of Medicine, 1943
J. E. M. Wigley
openalex   +4 more sources

Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica. [PDF]

Int J Mol Sci, 2017
Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms of this disease are rare and can have autosomal dominant, autosomal recessive, or X-linked inheritance. Three of the autosomal recessive cutis laxa syndromes, namely cutis laxa IIA (ARCL2A), cutis laxa IIB (ARCL2B), and ...
Kariminejad A, Afroozan F, Bozorgmehr B, Ghanadan A, Akbaroghli S, Khorram Khorshid HR, Mojahedi F, Setoodeh A, Loh A, Tan YX, Escande-Beillard N, Malfait F, Reversade B, Gardeitchik T, Morava E.   +14 more
europepmc   +6 more sources

A Japanese Case of Lenz‐Majewski Syndrome With a Novel PTDSS1 Variant

Molecular Genetics & Genomic Medicine
Background 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, Non Miyata, Jun Takayama, Naoya Saijo, Tomohisa Suzuki, Shigeo Kure, Atsuo Kikuchi, Gen Tamiya, Takumi Takizawa   +8 more
doaj   +2 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, Manal Azizi, Siham Dikhaye, Noufissa Benajiba   +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

Acquired Localized Cutis Laxa due to Increased Elastin Turnover [PDF]

Case Reports in Dermatology, 2016
Cutis laxa is a rare disease characterized by abnormal skin wrinkling and laxity, due to decreased elastin synthesis or structural extracellular matrix defects.
Rie Harboe Nygaard, Scott Maynard, Peter Schjerling, Michael Kjaer, Klaus Qvortrup, Vilhelm A. Bohr, Lene J. Rasmussen, Gregor B.E. Jemec, Michael Heidenheim   +8 more
doaj   +5 more sources

Congenital cutis laxa [PDF]

Annals of Saudi Medicine, 2010
Mauskar Anupama, Shanbag Preeti, Ahirrao Varsha, Nagotkar Leena   +3 more
doaj   +3 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 Immunol
Wu X, Zhang J, Shen M.
europepmc   +3 more sources

Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa. [PDF]

J Inherit Metab Dis, 2021
Several inborn errors of metabolism show cutis laxa as a highly recognizable feature. One group of these metabolic cutis laxa conditions is autosomal recessive cutis laxa type 2 caused by defects in v-ATPase components or the mitochondrial proline cycle.
Vogt G, El Choubassi N, Herczegfalvi Á, Kölbel H, Lekaj A, Schara U, Holtgrewe M, Krause S, Horvath R, Schuelke M, Hübner C, Mundlos S, Roos A, Lochmüller H, Karcagi V, Kornak U, Fischer-Zirnsak B.   +16 more
europepmc   +5 more sources

Anaesthetic Management in a Child with Cutis Laxa for Bilateral Ureteric Reimplantation

Archives of Anesthesia and Critical Care, 2021
Cutis laxa is a rare congenital multisystem connective tissue disorder. Patients with cutis laxa have facial features, pulmonary emphysema and right-sided heart failure.
Haripriya Ramachandran, Dammaningala Venkataramaiah Bhagya   +1 more
doaj   +1 more source