Results 91 to 100 of about 5,748 (201)

Pleomorphic Ichthyosis: Proposed Name for a Heterogeneous Group of Congenital Ichthyoses with Phenotypic Shifting and Mild Residual Scaling

, 2010
Congenital ichthyosis is often associated with typical neonatal phenotypes, "Collodion baby" and "Harlequin foetus", later transforming into severe lamellar or erythrodermic ichthyosis.
A Vahlquist, Vahlquist, Anders,
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Congenital harlequin ichthyosis: A rare case report and literature review

, 1970
Harlequin ichthyosis is an extremely rare congenital genetic disorder. One of the most prominent features is the severe thickening and scales of newborn skin covering the whole body surface.
Kawilarang, Bertha
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A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis

, 2020
Summary Autosomal recessive congenital ichthyosis (ARCI) is a group of rare, clinically heterogeneous skin disorders that affect cornification. ARCI includes lamellar ichthyosis, congenital ichthyosiform erythroderma and harlequin ichthyosis.
Fonseca Mendoza, Dora Janeth, Restrepo Fernández, Carlos Martín, Medina, C. L., Mosquera, H., Vergara, J. I., Ortega?Recalde, O., Moreno, M. B., Rojas, R. F., Laissue, P.   +8 more
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Pathogenic Variants in the ABCA12 Gene Associated to Autosomal Recessive Congenital Ichthyosis: Report of an Attenuated Phenotype

European Medical Journal Dermatology
Congenital ichthyosis represents keratinisation disorders characterised by abnormal skin scaling across the entire body, leading to a red, denuded, and scaly appearance.
Gabriela Mantilla Beltrán, Ana María Navarro Pinilla, Diego Andrés Padilla Mantilla, Alfonso Suárez Camacho, Mónica Paola Novoa Candia   +4 more
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Cross-sectional survey on disease severity in Japanese patients with harlequin ichthyosis/ichthyosis: Syndromic forms and quality-of-life analysis in a subgroup [PDF]

, 2018
Background: Congenital ichthyoses (CIs) adversely affect quality of life (QOL) in patients. However, the effects of CIs on patient QOL have not been studied sufficiently.
Takeichi, Takuya, Masuda, Koji, Nakajima, Kimiko, Kawakami, Hiroshi, Ochiai, Toyoko, Kanekura, Takuro, Kurosawa, Michiko, Hatano, Yutaka, Kubo, Akiharu, Moriwaki, Shinichi, Washio, Ken, Amano, Hiroo, Shibata, Akitaka, Murase, Chiaki, Tohyama, Mikiko, Asano, Masayuki, Nakatochi, Masahiro, Teramura, Kazuya, Ishii, Norito, Sato, Tomotaka, Seishima, Mariko, Ishida-Yamamoto, Akemi, Akasaka, Eijiro, Akiyama, Masashi, Kinoshita, Fumie, Ikeda, Shigaku   +25 more
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Lamellar Ichthyosis with Bilateral Ectropion

, 2016
Lamellar ichthyosis is a rare congenital disorder with ocular manifestation resulting from the cicatrization of anterior lamella of eyelids. Early diagnosis and management of ectropion can prevent the most severe complications such as severe dry eyes ...
Sharma, Reena, Jain, Vaibhav Kumar, Jain, Gunjan, Sharma, Indra Kumar, Verma, Ganesh Kumar   +4 more
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Dorfman-Chanarin syndrome: A rare neutral lipid storage disease

Indian Journal of Pathology and Microbiology, 2010
Dorfman-Chanarin syndrome is a rare neutral lipid storage disorder characterized by ichthyosis, lipid vacuolations in peripheral leucocytes, and multisystem involvement. It is an autosomal recessive disorder caused by mutations in the CGI-58 gene.
Mitra Souvik, Samanta Moumita, Sarkar Mihir, Chatterjee Sukanta   +3 more
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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
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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
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CONGENITAL ICHTHYOSIS (CLINICAL CASE)

Медицина в Кузбассе, 2021
The word «ichthyosis» comes from the Greek root «ichthys», which means «fish», and is manifested by the characteristic peeling of the skin, resembling the scales of a fish. In patients with ichthyosis, the barrier function of the skin is impaired.
Ольга Борисовна Зарубина, Юлия Валерьевна Васютинская, Анна Николаевна Денисова, Наталья Викторовна Вахонина, Елена Владимировна Рудаева, Ольга Борисовна Карелина, Владимир Вячеславович Павленко, Сергей Валерьевич Рыбников, Вадим Гельевич Мозес, Светлана Ивановна Елгина   +9 more
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