Results 141 to 150 of about 528,814 (282)

Chanarin-Dorfman Syndrome with Multi-System Involvement in Two Siblings

Turkish Journal of Hematology, 2013
Chanarin-Dorfman syndrome (CDS) is a very rare autosomal recessive inherited neutral lipid metabolism disorder associated with congenital ichthyosis and multi-system involvement.
Seçil Arslansoyu Çamlar, Pınar Gençpınar, Balahan Makay, Ayşe Yüzbaşıoğlu, Nur Arslan, Serap Emre Dökmeci, Özden Anal, Galip Köse   +7 more
doaj   +1 more source

Coexistence of T-Cell Lymphoblastic Lymphoma and Ichthyosis Vulgaris: A Case Report

Case Reports in Oncological Medicine
Ichthyosis vulgaris (IV) is an inherited disorder characterized by the scaling of the skin. It is caused by mutations in the filaggrin gene. IV is a reactive skin manifestation that may be associated with malignant hematological disease.
Şule Çalışkan Kamış, Begül Yağcı   +1 more
doaj   +1 more source

A case report of squamous cell carcinoma in ichthyosis hystrix Curth-Macklin

Turkderm Turkish Archives of Dermatology and Venereology
The Curth-Macklin type of ichthyosis hystrix is an extremely rare genodermatosis presenting as generalized or nevoid forms. Clinical expression varies in the time of onset and morphology, even within families, from painful palmoplantar keratoderma to a ...
Vishalakshi Pandit, Rakesh Yelhanka
doaj   +1 more source

A Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis [PDF]

, 2011
Shirli Israeli, Ziad Khamaysi, Dana Fuchs‐Telem, Janna Nousbeck, Richard N. Bergman, Ofer Sarig, Eli Sprecher   +6 more
openalex   +1 more source

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +18 more
core  

A 6-Month-Old Boy with Reddish, Scaly Skin: Netherton Syndrome

Journal of Pediatric Research, 2018
Typical features of Netherton syndrome are congenital ichthyosiform erythroderma, atopic diathesis and trichorrhexis nodosa. Here in this report, we present a case with congenital ichthyosis with atopy presenting later.
Fatma Derya Bulut, Deniz Kör, Berna Şeker Yılmaz, Mustafa Yılmaz, Derya Ufuk Altıntaş, Serdar Ceylaner, Sebile Kılavuz, Neslihan Önenli Mungan   +7 more
doaj   +1 more source

Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis [PDF]

, 2016
Yohya Shigehara, Shujiro Okuda, Georges Nemer, Adele Chedraoui, Ryota Hayashi, Fadi Bitar, Hiroyuki Nakai, Ossama Abbas, Laetitia Daou, Riichiro Abe, Maria Bou Sleiman, Abdul Ghani Kibbi, Mazen Kurban, Yutaka Shimomura   +13 more
openalex   +1 more source

Management of harlequin ichthyosis in low-income countries [PDF]

, 2011
Mesia, D, Rossi, G
core   +2 more sources

A novel combination of mutations leading to congenital ichthyosis and ichthyosis vulgaris. [PDF]

Clin Case Rep, 2023
Shearer Z, White G, Steed JZ, Brown C, Venable T, Baber M.   +5 more
europepmc   +1 more source

Mutations in the _SC4MOL_ gene encoding a novel methyl sterol oxidase cause autosomal recessive psoriasisiform dermatitis, microcephaly and developmental delay [PDF]

, 2008
Disorders of cholesterol biosynthesis have clinical manifestations involving skeleton, eyes, neurologic development, and skin. We describe a patient with congenital cataracts, developmental delay, microcephaly, and low serum cholesterol who developed ...
Abbe Vallejo, Gerard Vockley, Jacqueline Hoover, Jushua Michel, Laura Ferris, Lisa Kratz, Miao He, Michael Gibson, Richard Kelley   +8 more
core   +1 more source