Results 41 to 50 of about 3,923 (158)

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, Auer-Grumbach, Piet, Budka, Herbert, El Shabrawi-Caelen, Laila, Fink-Puches, Regina, Fröhlich, Eleonore, Guelly, Christian, Haas, Anton, Janecke, Andreas R., Metze, Dieter, Papić, Lea, Pieber, Thomas R., Schabhüttl, Maria, Senderek, Jan, Trajanoski, Slave, Weger, Martin, Windpassinger, Christian   +16 more
core  

Cutis laxa: A report of two interesting cases

Indian Journal of Dermatology, 2013
Cutis laxa is a rare disease that may be either inherited or acquired. The acquired form is rarer than the inherited form. Pathogenesis of this disease is largely unknown.
Subhabrata Mitra, Amit Kumar Agarwal, Jayanta Kumar Das, Asok Gangopadhyay   +3 more
doaj   +1 more source

Primary systemic amyloidosis, acquired cutis laxa and cutaneous mucinosis in a patient with multiple myeloma [PDF]

Anais Brasileiros de Dermatologia, 2013
A 57-year-old woman presented with periorbital ecchymoses, laxity in skin folds, polyneuropathy and bilateral carpal tunnel syndrome. A skin biopsy of the axillary lesion demonstrated fragmentation of elastic fibers, but with a negative von Kossa stain ...
Fernanda Guedes Lavorato, Maria de Fátima Guimarães Scotelaro Alves, Juan Manuel Piñeiro Maceira, Natasha Unterstell, Laura Araújo Serpa, Luna Azulay-Abulafia   +5 more
doaj   +1 more source

Impact of N‐linked glycans on the dual short fibulin/LTBP‐4 axes regulating elastogenesis

The FEBS Journal, Volume 292, Issue 21, Page 5676-5696, November 2025.
Elastic fiber assembly is orchestrated by multiple glycoproteins. We delineate the molecular basis of two key axes involved in elastic fiber formation—LTBP‐4L/fibulin‐4 and LTBP‐4S/fibulin‐5. We show that N‐linked glycans on these glycoproteins regulate their interactions and conformations, both of which are critical aspects in elastic fiber formation.
Valentin Nelea, Heena Kumra, Chae Syng Lee, Daniel Williamson, Hana Hakami, Rong‐Mo Zhang, Neha E. H. Dinesh, Robert Haltiwanger, Dieter P. Reinhardt   +8 more
wiley   +1 more source

Multiple arterial anomalies in the newborn infant. Echocardiographic and angiographic diagnosis [PDF]

, 2000
Multiple arterial anomalies characterized by tortuosity and rolling of the pulmonary arteries and aorta were diagnosed on echocardiography in an asymptomatic newborn infant with a phenotype suggesting Ehlers-Danlos syndrome.
Andrade, José Lazaro de, Carvalho, Antonio Carlos, Gomes, Lourdes, Moisés, Valdir Ambrósio, Rivera, Ivan Romero, Silva, Celia Camelo   +5 more
core   +5 more sources

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +7 more
wiley   +1 more source

Congenital Disorder of Glycosylation Following ATP6AP1 Deficiency With Normal Liver Function: A Case Report

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, Babak Abdinia, Kia Seyed Toutounchi, Mohammad Saberi, Shabnam Eskandarzadeh   +4 more
wiley   +1 more source

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

, 2020
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.
El Choubassi, Naji, Fischer-Zirnsak, Björn, Herczegfalvi, Ágnes, Holtgrewe, Manuel, Horvath, Rita, Hübner, Christoph, Karcagi, Veronika, Kornak, Uwe, Krause, Sabine, Kölbel, Heike, Lekaj, Anja, Lochmüller, Hanns, Mundlos, Stefan, Roos, Andreas, Schara, Ulrike, Schuelke, Markus, Vogt, Guido   +16 more
core   +3 more sources

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, Alireza Ebrahim Soltani, Mehrdad Goudarzi, Amir Abbas Yaghooti, Abbas Ostad Alipour, Ebrahim Espahbodi   +5 more
doaj  

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, Fatmah Al‐Sughayer, Humoud Al‐Sabah, Atlal Al‐Lafi   +3 more
wiley   +1 more source