Sjogren-Larsson syndrome: A case report of a rare disease
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
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Unilateral megalocornea associated with Fuchs' heterochromic iridocyclitis
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
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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]
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
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
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
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
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
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
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Varicella Zoster Virus Infections in Canadian Children in the Prevaccine Era: A Hospital‐Based Study
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
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

