Amnion Nodosum and Congenital Ichthyosis [PDF]
American Journal of Clinical Pathology, 1977 Histologic characteristics of the placentas in four cases of amnion nodosum and congenital ichthyosis, a rare association, are presented. Two cases were missed abortions of a single multiparous woman, supporting the hypothesis that in congenital ichthyosis amnion and skin share an abnormal genetic trait.
A G, Garcia +3 more
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Prevalence of inherited ichthyosis in France: a study using capture-recapture method [PDF]
, 2014 International audienceBACKGROUND:Inherited ichthyoses represent a group of rare skin disorders characterized by scaling, hyperkeratosis and inconstant erythema, involving most of the tegument. Epidemiology remains poorly described.
Barbarot, Sebastien +13 more
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Study of Correlation of Severity and Quality of Life in Patients with Congenital Ichthyosis
Nepal Journal of Dermatology, Venereology & Leprology, 2022 Introduction: Congenital ichthyosis is a disorder of cornification of skin with various cutaneous symptoms. Quality of life is a subjective perception of patients regarding their disease status and treatment received.
Priyanka Hemrajani +3 more
doaj +3 more sources
Phenotypic diversity of the recurrent p.Val379Leu missense mutation of the TGM1 gene
Dermatologica Sinica, 2018 Autosomal recessive congenital ichthyosis type 1 (ARCI1), a clinically heterogeneous group of keratinization disorders, develops due to mutations in the transglutaminase 1 (TGM1) gene.
Adrienn Sulák +4 more
doaj +1 more source
The possibilities of using retinol palmitate in the systemic treatment of generalized hereditary keratinization disorders [PDF]
Vestnik Dermatologii i Venerologii, 2023 Hereditary ichthyosis is a group of generalized hereditary keratinization disorders characterized by general dryness of the skin, peeling, hyperkeratosis and often erythroderma. These manifestations are caused by mutations in genes mainly involved in the
Stanislava Yu. Petrova, Vera I. Albanova
doaj +1 more source
Short stature with congenital ichthyosis [PDF]
BMJ Case Reports, 2015 PIBIDS syndrome (photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility and short stature) is a variant of trichothiodystrophy. It is a rare form of autosomal recessive congenital ichthyosis. Short stature is a vital component of PIBIDS syndrome. We present the cases of two siblings in whom we diagnosed PIBIDS syndrome.
Som J, Lakhani, Om J, Lakhani
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Congenital Ichthyosis: Clinical and Genetic Characteristics of the Disease
Вопросы современной педиатрии, 2022 Congenital ichthyosis is a group (almost 100 clinical variants) of rare genetic skin diseases caused by pathogenic changes in more than 50 genes.
Nikolay N. Murashkin +3 more
doaj +1 more source
Further insights in trichothiodistrophy: a clinical, microscopic, and ultrastructural study of 20 cases and literature review [PDF]
, 2015 Background: Trichothiodistrophy (TTD) is a rare autosomal recessive condition that is characterized by a specific congenital hair shaft dysplasia caused by deficiency of sulfur associated with a wide spectrum of multisystem abnormalities. In this article,
Cepeda-Valdés, Rodrigo +7 more
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Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis [PDF]
, 2016 Twenty-six families with keratinopathic ichthyoses (epidermolytic ichthyosis, superficial epidermolytic ichthyosis or congenital reticular ichthyosiform erythroderma) were studied.
Betz, Regina C. +12 more
core +3 more sources
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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