Results 21 to 30 of about 4,942 (173)
Balkan Journal of Medical Genetics, 2023 Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal dysplastic syndrome presenting with keratitis, ichthyosis and sensorineural hearing loss.
Kalezić T +6 more
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Quality of life in Swedish children with congenital ichthyosis
Dermatology Reports, 2010 Congenital ichthyosis encompasses a large group of keratinizing disorders with widespread scaling and a variable degree of erythema. Little is known about the quality of life in children with congenital ichthyosis and the impact of the disease on their ...
Agneta Gånemo
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Spontaneous subconjunctival abscess in congenital lamellar ichthyosis
Indian Journal of Ophthalmology, 2018 Congenital lamellar ichthyosis is an autosomal recessive, heterogeneous disorder presenting at birth with generalized skin involvement. The most common ophthalmic manifestation noted is bilateral ectropion of the lower eyelids.
Shivanand C Bubanale +2 more
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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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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
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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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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
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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
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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
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