Results 1 to 10 of about 530 (127)

Primary Endometrial Squamous Cell Carcinoma in-situ with Extensive Icthyosis Uteri: A Rare Case Report [PDF]

open access: yesJournal 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   +3 more sources

Unusual presentation of Kallmannn syndrome with contiguous gene deletion in three siblings of a family

open access: yesIndian 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   +3 more sources

Sjogren-Larsson syndrome: A case report of a rare disease

open access: yesIndian Dermatology Online Journal, 2011
We report a case of Sjogren-Larsson syndrome with clinical profile (spastic diplegia, icthyosis, mental retardation) and imaging findings on magnetic resonance imaging.
S P Gupta   +3 more
doaj   +2 more sources

A Newborn with Icthyosis, Corpus Callosum Hypoplasia, Microcephaly, Atrichia and Intra Uterine Growth Retardation (IUGR): AVariant of Icthyosis Follicularis Atrichia Photophobia (IFAP) or Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Deformities, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate, Cryptorchidism (BRESHECK)? [PDF]

open access: yesJournal of Krishna Institute of Medical Sciences University, 2017
A full term newborn small for gestational age Intra Uterine Growth Retardation (IUGR) admitted with congenital dysmorphic features with icthyosis, atrichia, microcephaly and eye abnormalities, when explored further for other congenital malformations,
Gurudutt S. Joshi   +2 more
doaj   +2 more sources

Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis [PDF]

open access: yesJournal 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

Estimating the Frequency of Hanifin and Rajka’s Minor Criteria among Paediatric Atopic Cases at a Tertiary Care Hospital in Western Tamil Nadu, India- A Cross-sectional Study [PDF]

open access: yesIndian Journal of Neonatal Medicine and Research, 2023
Introduction: Atopic Dermatitis (AD) is a common relapsing inflammatory disorder, among the paediatric population clinically, characterised by pruritus and recurring eczematous skin lesions and a host of other cutaneous changes.
K Gopalakrishnan   +6 more
doaj   +2 more sources

Lamellar Icthyosis – A case Report [PDF]

open access: yesJournal 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   +2 more sources

Harlequin Ichthyosis: report of three cases

open access: yesGAIMS 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

Cataract surgery in Keratitis Ichthyosis Deafness (KID) syndrome. Performing a routine surgery in a rare entity - Points to consider

open access: yesIndian Journal of Ophthalmology. Case Reports, 2021
We describe the clinical features of a rare congenital ectodermal dysplasia - Keratitis Icthyosis Deafness (KID) syndrome in a 45-year-old female patient, who presented with corneal neovascularization and advanced cataract in both eyes.
Monika Balyan   +2 more
doaj   +1 more source

Unilateral megalocornea associated with Fuchs' heterochromic iridocyclitis

open access: yesTNOA Journal of Ophthalmic Science and Research, 2019
Fuchs' heterochromic iridocyclitis is an atypical form of chronic nongranulomatous anterior uveitis and is almost always unilateral. It presents with cataract, mild anterior chamber reaction, diffuse stellate keratic precipitates, absence of posterior ...
Muthukrishnan Vallinayagam   +3 more
doaj   +1 more source

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