Hiperqueratose epidermolítica em gêmeas monozigóticas: relato de caso e revisão de literatura. [PDF]
, 2007 Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Sens, Mariana Mazzochi
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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 +18 more
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A case report of squamous cell carcinoma in ichthyosis hystrix Curth-Macklin
Turkderm Turkish Archives of Dermatology and VenereologyThe 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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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 +3 more
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Congenital Ichthyosis - Collodion Baby Case Report
JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH, 2016 A term female neonate was delivered by LSCS to a primigravida mother with the parents being non-consanguineous. The infant had a birth weight of 2.85 kg (appropriate for gestational age), with length and head circumference being 51cm and 32cm, respectively. On examination the vitals of the neonate was normal and the Apgar score was normal 6/9/9 at 1, 5,
Prachi Srivastava +4 more
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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 +9 more
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Elevated n-alkanes in congenital ichthyosiform erythroderma. Phenotypic differentiation of two types of autosomal recessive ichthyosis. [PDF]
, 1984 Mary L. Williams, Peter M. Elias
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Expanding the Genetic Spectrum of ANOS1 Mutations in Patients with Congenital Hypogonadotropic Hypogonadism [PDF]
, 2012 STUDY QUESTION: What is the prevalence and functional consequence of ANOS1 (KAL1) mutations in a group of men with congenital hypogonadotropic hypogonadism (CHH)?
Gonçalves, CI +4 more
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Coexistence of T-Cell Lymphoblastic Lymphoma and Ichthyosis Vulgaris: A Case Report
Case Reports in Oncological MedicineIchthyosis 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 +1 more
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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 +7 more
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