Results 31 to 40 of about 1,431 (158)

Microelements and Inherited Metabolic Diseases

Acta Medica, 2002
In addition to the main groups of inherited metabolic diseases, including mitochondrial, peroxisomal and lysosomal defects, organic acidurias, porphyrias, defects of amino acids, saccharides and fatty acids metabolism, disorders of transport and ...
Eliška Marklová
doaj   +1 more source

Acquired zinc deficiency in an adult female

Indian Journal of Dermatology, 2012
Acrodermatitis enteropathica is an autosomal recessive inherited disorder of zinc absorption. Acquired cases are reported occasionally in patients with eating disorders or Crohn′s disease.
Mohanan Saritha, Divya Gupta, Laxmisha Chandrashekar, Devinder M Thappa, Nachiappa G Rajesh   +4 more
doaj   +1 more source

Clinical analysis of 20 cases of childhood acrodermatitis enteropathica

Pifu-xingbing zhenliaoxue zazhi
Objective To investigate the clinical features of acrodermatitis enteropathica (AE). Methods A retrospective analysis was conducted on the clinical data of 20 children diagnosed with acrodermatitis enteropathica in the outpatient clinic at the ...
Jibing LI, Wei LI, Cui HU, Yingying QIAN, Ting ZHANG, Yafen WU, Hua QIAN   +6 more
doaj   +1 more source

Acrodermatitis enteropática

Boletín Médico del Hospital Infantil de México, 2017
Acrodermatitis enteropathica is a low-incidence disease due to inherited or acquired zinc deficiency. It is characterized by acral dermatitis, alopecia, diarrhea and growth retardation. The dermatological condition may mimic a cutaneous fungal infection or other pathogen-related skin diseases.We report the case of a female patient of 7 months of age ...
María Elena Martínez-Bustamante, Rubén Peña-Vélez, Enory Almanza-Miranda, Carlos Andrés Aceves-Barrios, Tonatiuh Vargas-Pastrana, Alfredo Raúl Rodolfo Morayta-Ramírez Corona   +5 more
openaire   +3 more sources

Acrodermatitis dysmetabolica as a sign of methylmalonic aciduria decompensation

Clinical Case Reports, 2018
Key Clinical Message Methylmalonic aciduria children must follow an adequate diet with low protein intake and should be regularly monitored to prevent complications.
Joana Rosa, Ana Beatriz Fraga, Rita deCarvalho, Ana Lúcia Maia, Ana Luísa Rodrigues, Maria Fernanda Gomes   +5 more
doaj   +1 more source

A mouse model of acrodermatitis enteropathica: loss of intestine zinc transporter ZIP4 (Slc39a4) disrupts the stem cell niche and intestine integrity. [PDF]

PLoS Genetics, 2012
Mutations in the human Zip4 gene cause acrodermatitis enteropathica, a rare, pseudo-dominant, lethal genetic disorder. We created a tamoxifen-inducible, enterocyte-specific knockout of this gene in mice which mimics this human disorder. We found that the
Jim Geiser, Koen J T Venken, Robert C De Lisle, Glen K Andrews   +3 more
doaj   +1 more source

Chronic mucocutaneous candidiasis, pancytopenia, and systemic mycosis in a patient with STAT1 gene mutation ineffectively treated with ruxolitinib

Central European Journal of Immunology, 2022
We present a case of a white adult female patient who suffered from chronic mucocutaneous candidiasis (CMC) since infancy. Her parents were not consanguineous, and neither of them nor any other family member, including an older sister, suffered from ...
Stanisława Bazan-Socha, Ada Gradzikiewicz, Magdalena Celińska-Lowenhoff, Aleksandra Matyja-Bednarczyk, Anna Maciołek, Katarzyna Bąbol-Pokora   +5 more
doaj   +1 more source

Multiple Carboxylase Deficiency in an Infant Presenting With Severe Metabolic Acidosis and Sepsis‐Like Features: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Multiple carboxylase deficiency (MCD) is a rare, treatable inborn error of biotin metabolism that may present in children in the first year of life with life‐threatening metabolic crises. We report a 4‐month‐old child presenting with persistent seizures, eczematous rash near the orifices, unjustified loss of hair with baldness, and severe ...
Touqeer Rehman, Riyan Saeed, Muhammad Ahmed Akif Rauf, Luqman Asif, Muhammad Junaid, Muddassir Khalid, Rao Nouman Ali, Umair Ali, Fred Segawa   +8 more
wiley   +1 more source

European S2k guidelines on management of autoimmune blistering diseases in children and adolescents

Journal of the European Academy of Dermatology and Venereology, Volume 40, Issue 7, Page 1137-1161, July 2026.
Autoimmune blistering disorders (AIBDs) in children are rare, challenging to diagnose and treat and often require immunosuppressants. Until now, no paediatric care guidelines existed. The EADV Task Force for AIBDs has developed the consensus‐based recommendations, enabling physicians to adopt a uniform, tailored treatment strategy to improve outcomes ...
A. Nanda, B. Tedbirt, C. Bodemer, M. C. Bolling, M. El Hachem, M. Nikolić, E. Benton, M. Caproni, D. De, D. Didona, K. Drenovska, M. Goebeler, M. Hertl, B. Horváth, M. Kasperkiewicz, D. Kiritsi, M. Larralde, A. V. Marzano, J. Meijer, D. F. Murrell, J. Powell, E. Sprecher, N. S. Chandran, M. M. Tomayko, S. Uzun, N. van Beek, H. Ott, A. Patsatsi, A. Torrelo, A. Welfringer‐Morin, E. Schmidt, P. Joly   +31 more
wiley   +1 more source

Clinical variants of acrodermatitis enteropathica and its co-relation with genetics

Indian Journal of Paediatric Dermatology, 2016
Acrodermatitis enteropathica (AE) is a rare disorder of zinc deficiency, which manifests as acral and periorificial dermatitis, alopecia, intractable diarrhea, and failure to thrive.
Sarabjit Kaur, Ankita Sangwan, Priyadarshini Sahu, Surabhi Dayal, Vijay Kumar Jain   +4 more
doaj   +1 more source