Results 1 to 10 of about 766 (133)
Lamellar Icthyosis – A case Report [PDF]
Journal of Clinical and Diagnostic Research, 2014 Autosomal recessive congenital ichthyosis is a heterogenous group of disorders that are present at birth with generalized involvement of skin and lack of other organ systems.
Pranitha V +3 more
doaj +6 more sources
Primary Endometrial Squamous Cell Carcinoma in-situ with Extensive Icthyosis Uteri: A Rare Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2017 Primary squamous cell carcinoma of the endometrium is a rare entity with primary endometrial squamous cell carcinoma in-situ being more uncommon. We report a 60-year-old multiparous post-menopausal woman who presented with a lower abdominal swelling ...
Manjula Jain +2 more
doaj +5 more sources
Prenatal Diagnosis of Harlequin Icthyosis.
Narayana Medical Journal, 2020 Harlequin icthyosis is a very rare but most fatal form of Autosomal recessive congenital icthyosis [1]. It is characterized by very thick keratin layer of skin, flattened ears,[2] , fish mouth appearance of the eclabium and diffuse plate like hexagonal ...
Venkatesh Manchikanti
exaly +8 more sources
Lamellar icthyosis with bilateral cicatricial ectropion: Case report with review of the literature
Medical Journal of Dr. D.Y. Patil University, 2015 Lamellar ichthyosis (LI), is a rare genodermatoses, that appears at birth and continues throughout a person's life with an autosomal recessive mode of inheritance.
Sonia P Jain
doaj +3 more sources
Use of coconut oil in a case of Lamellar icthyosis
MedPulse International Journal of Pediatrics, 2019 Gargi Chaphekar +6 more
exaly +3 more sources
Autosomal Recessive Congenital Icthyosis with Cataract – A Case Report from Pakistan
Journal of Medicine, 2023 The ichthyoses are a diverse group of disorders with variable clinical presentations. There are syndromic and non-syndromic forms with multiple associated features.
Nida Fatima +3 more
semanticscholar +2 more sources
Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis [PDF]
Journal of Clinical and Diagnostic Research, 2015 Harlequin Ichthyosis (HI) is an extremely rare genetic skin disorder. It is the most severe type of ichthyosis. It is characterized by thickened, dry, rough and armor like plates of skin with deep cracks in between.
Swati Rathore +4 more
doaj +2 more sources
Journal of Radiology Case Reports, 2010 Keratitis-Icthyosis-Deafness (KID) syndrome is a rare dysplasia characterized by vascularizing keratitis, congenital sensorineural hearing-loss, and progressive erythrokeratoderma.
Carina Mari Aparici
exaly +2 more sources
Unusual presentation of Kallmannn syndrome with contiguous gene deletion in three siblings of a family [PDF]
Indian Journal of Endocrinology and Metabolism, 2012 We report the case of 3 brothers aged 34, 24, and 22 years, unmarried, who presented to our endocrinology clinic with absence of secondary sexual characters. There was no such history in other siblings, but their maternal uncle had similar complaints. On
Sri Venkat Madhu +4 more
doaj +2 more sources
Harlequin Ichthyosis: report of three cases
GAIMS Journal of Medical Sciences, 2022 Harlequin Icthyosis is the most severe form of congenital Icthyosis. It characteristically presents as large thickened plate like scaly skin lesions over whole body at the time of birth. Few patients survive beyond neonatal period.
Rekha Thaddanee +2 more
doaj +1 more source