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
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Severe Bilateral Ectropion in Lamellar Ichthyosis: A Case Report
The American journal of case reports, 2022 Patient: Female, newborn Final Diagnosis: Ectropion in lamellar ichthyosis Symptoms: Entropion • parchment-like scales • dry eyes Medication: — Clinical Procedure: Ophthalmological and dermatological follow-up Specialty: Ophthalmology Objective: Rare ...
M. O. Moustaine +3 more
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Oral Manifestation of Autosomal Recessive Congenital Ichthyosis in a 2-Year-Old Patient
Case Reports in Dentistry, 2014 Ichthyosis is a heterogeneous family of hereditary keratinisation disorders mostly characterized by variable erythema of the whole body and different scaling patterns.
Kavitha Ramar +5 more
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Bilateral viral keratitis in lamellar ichthyosis: A rare ocular manifestation
Indian Journal of Ophthalmology, 2022 Cite this article as: Dhakshini LS, Rashmita R, Christy JS. Bilateral viral keratitis in lamellar ichthyosis: A rare ocular manifestation. Indian J Ophthalmol 2022;70:2628-9. This is an open access journal, and articles are distributed under the terms of
Lingappan Subramaniam Dhakshini +2 more
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Dermatodendrosophy and dermatokarposophy – A bird's eye view
Clinical Dermatology Review, 2022 Dermatodendrosophy is defined to describe the relation between dermatology and the trees whereas Dermatokarposophy describes the connection between dermatology and fruits.
Anil Harishchandra Patki +1 more
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Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosis. [PDF]
, 2011 Zebrafish (Danio rerio) can serve as a model system to study heritable skin diseases. The skin is rapidly developed during the first 5-6 days of embryonic growth, accompanied by expression of skin-specific genes. Transmission electron microscopy (TEM) of
Akiyama, Masashi +8 more
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Acral lamellar ichthyosis with amino acid substitution in the C‐terminus of keratin 2
Journal of the European Academy of Dermatology and Venereology, 2022 Most cases of hereditary ichthyoses present with generalized scaling and skin dryness. However, in some cases skin involvement is restricted to particular body regions as in acral lamellar ichthyosis.
L. Frommherz +11 more
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Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation, and metaphyseal dysplasia (Shwachman syndrome). [PDF]
, 1991 The Shwachman syndrome comprises exocrine pancreatic insufficiency, growth retardation, and bone marrow hypoplasia resulting in neutropenia. Clinical, morphological, and ultrastructural studies, as well as hair analysis, were performed in a patient with ...
Goeteyn, M. (M.) +4 more
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Further insights in trichothiodistrophy: a clinical, microscopic, and ultrastructural study of 20 cases and literature review [PDF]
, 2015 Background: Trichothiodistrophy (TTD) is a rare autosomal recessive condition that is characterized by a specific congenital hair shaft dysplasia caused by deficiency of sulfur associated with a wide spectrum of multisystem abnormalities. In this article,
Cepeda-Valdés, Rodrigo +7 more
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The importance of the lipoxygenase-hepoxilin pathway in the mammalian epidermal barrier [PDF]
, 2014 This review covers the background to discovery of the two key lipoxygenases (LOX) involved in epidermal barrier function, 12R-LOX and eLOX3, and our current views on their functioning.
Brash, Alan R. +4 more
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