Results 31 to 40 of about 766 (133)

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   +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

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  

Keratitis-Ichthyosis-Deafness syndrome: A rare congenital disorder

open access: yesIndian Dermatology Online Journal, 2012
Keratitis-Icthyosis-Deafness syndrome is a rare congenital disorder characterized by keratitis, ichthyosis, and deafness. We report a 13 year old female child who presented with diffuse alopecia of the scalp and body. There was erythrokeratoderma of face
Vinay Shanker   +2 more
doaj   +1 more source

Oral Manifestation of Autosomal Recessive Congenital Ichthyosis in a 2‐Year‐Old Patient

open access: yesCase Reports in Dentistry, Volume 2014, Issue 1, 2014., 2014
Ichthyosis is a heterogeneous family of hereditary keratinisation disorders mostly characterized by variable erythema of the whole body and different scaling patterns. Although these disorders affect tissues of epidermal origin, there is little evidence regarding the oral and dental manifestations of Lamellar Ichthyosis.
Kavitha Ramar   +6 more
wiley   +1 more source

A pilot study demonstrating a non‐invasive method for the measurement of protein turnover in skin disorders: application to psoriasis

open access: yesClinical and Translational Medicine, Volume 2, Issue 1, December 2013., 2013
Abstract Background Previous studies of epidermal kinetics in psoriasis have relied on invasive biopsy procedures or the use of radioactive labels. We previously developed a non‐invasive method for measuring keratin synthesis in human skin using deuterated water labeling, serial collection of tape strips and measurement of deuterium enrichment in ...
Claire L Emson   +7 more
wiley   +1 more source

A Rare Cause of Fatty Liver and Elevated Aminotransferase Levels: Chanarin‐Dorfman Syndrome: A Case Report

open access: yesInternational Journal of Hepatology, Volume 2011, Issue 1, 2011., 2011
Chanarin‐Dorfman syndrome is a rare, inherited metabolic disorder of neutral lipid storage characterized by ichthyosis, lipid vacuoles in leukocytes, and involvement of several internal organs, mostly the liver. Since the initial case was reported by Dorfman in 1974, nearly 50 cases have been reported, and the majority were from Middle East countries ...
Özdal Ersoy   +5 more
wiley   +1 more source

Ichthyosis hystrix

open access: yesIndian Dermatology Online Journal, 2013
The present report describes the condition in a three day old male child with bilateral ,linear, hyperpigmented and hyperkeratotic verrucous plaques and patchy alopecia over scalpe without any nail and skeletal abnormalities.
Surajit Nayak   +2 more
doaj   +1 more source

Varicella Zoster Virus Infections in Canadian Children in the Prevaccine Era: A Hospital‐Based Study

open access: yesCanadian Journal of Infectious Diseases and Medical Microbiology, Volume 8, Issue 6, Page 323-328, 1997., 1997
OBJECTIVE: To describe the clinical course of children admitted for varicella zoster virus (VZV) infections to a pediatric hospital before the release of VZV vaccine in Canada. DESIGN: Retrospective case series. SETTING: Tertiary pediatric hospital. Population studied was children aged 18 years or younger admitted to hospital between 1983 and 1992 who ...
Susan Kuhn, H Dele Davies, Taj Jadavji
wiley   +1 more source

Advances in the Treatment of Desseminated Mycobacterium avium Complex in Adults with AIDS

open access: yesCanadian Journal of Infectious Diseases and Medical Microbiology, Volume 5, Issue B, Page 14B-20B, 1994., 1994
Although the prospects for successful treatment of Mycobacterium avium complex (MAC) infection in AIDS recently seemed quite dismal, the introduction of the semisynthetic macrolides, clarithromycin and azithromycin, has altered this perspective. Several recent clinical studies have been key to our understanding of the successful management of these ...
Carol A Kemper
wiley   +1 more source

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