Results 91 to 100 of about 14,698 (215)

Harlequin Ichthyosis: A Case Study

, 2004
The most severe manifestation of congenital ichthyosis presents itself in the form known as harlequin ichthyosis. Harlequin ichthyosis is characterized by a profound thickening of the fetal skin.
Phyllis Lawlor-Klean, Laura Murphy-Brown, Judith Vella   +2 more
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Harlequin Ichthyosis

, 2011
Objective: To assess the clinical outcomes of 45 cases of harlequin ichthyosis and review the underlying ABCA12 gene mutations in these ...
Purvis, Diana, Mary Glover, Paige, David, Hellström-Pigg, Maritta,, Jemima Mellerio, David Paige, O'Toole, Edel, Emma Hobson, Kelsell, David, Anders Vahlquist, Edel O’Toole, Burrows, Nigel, Hobson, Emma, David Everman, Fouani, Mohamad, Andrew Ilchyshyn, John Harper, Lestringant, Giles, Everman, David, Carol Chu, Kennedy, Cameron, Charles Mein, Diana Purvis, Harper, John, Cameron Kennedy, Mein, Charles, Agneta Gånemo, David Kelsell, Rajpopat, Shefali, Hulya Kayserili, Fleckman, Philip, Mellerio, Jemima, Celia Moss, Philip Fleckman, Giles Lestringant, Ganemo, Agneta, Nigel Burrows, Vahlquist, Anders,, Ilchyshyn, Andrew, Taylor, Aileen, Hellstrom-Pigg, Maritta, Mohamad Fouani, Glover, Mary, Chu, Carol, Shefali Rajpopat, Vahlquist, Anders, Kayserili, Hulya, Aileen Taylor, Maritta Hellstrom-Pigg, Moss, Celia   +49 more
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Ichthyosis

, 1910
Stereocard for Ichthyosis. The front of the card depicts an image of the disease and the back of the card lists information about the disease including a description, diagnoses, and ...

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Lovastatin-induced, acquired ichthyosis

, 1996
A renal transplant patient who had been receiving immunosuppressive treatment and ranitidine for one year developed ichthyosis after one month of lovastatin therapy. The causes that may lead to the development of dermatoses are discussed.
Baykal, Can, Kavak, A, Korkmaz, Y
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Lamellar ichthyosis: a case report [PDF]

, 2002
Ichthyoses are divided into four groups according to clinical, histopathologic and genetic findings. Lamellar ichthyosis is one of them. The incidence of lamellar ichthyosis is believed to be approximately 1 per 100,000 to 300,000 live births.
Hamit Ozyürek, Ayşe Kavak, Murat Alper
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NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis

Romanian Journal of Laboratory Medicine, 2016
Introduction: Autosomal recessive congenital ichthyosis is a non-syndromic ichthyosis, with a genetic background of mutations in 9 genes. This case series presents clinical and paraclinical particularities of 3 Romanian ARCI patients with NIPAL4 mutation
Maier Dalila, Florea Adrian, Tilinca Mariana Cornelia, Zazgyva Ancuța, Cosgarea Rodica   +4 more
doaj   +1 more source

Severe ichthyosis in MPDU1-CDG.

, 2018
Congenital disorders of glycosylation (CDG) have a broad spectrum of clinical manifestations. They can affect multiple organ systems, including skin and subcutaneous tissue. We report on an infant with severe ichthyosis caused by MPDU1 mutations.
Prokisch, H., Wortmann, S.B., Thiel, C., Riedhammer, K., Distelmaier, F., Alhaddad, B., Mayatepek, E.   +6 more
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Zeldzaam subtype van congenitale ichthyosis: Ichthyosis prematuriteitsyndroom (IPS)

, 2017
Ichthyosis prematurity syndrome (IPS) is a rare subtype of autosomal recessive congenital ichthyosis and is caused by a mutation in the SLC27A4 gene encoding the fatty acid transport protein 4 (FATP4).
Kuijpers, A.L.A., van Geel, Michel, Pasmans, S. G. M. A., van Oosterhout, M.M., Stuurman, K.E., Steijlen, Peter   +5 more
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Ichthyosis in Chianina cattle

, 2006
Ichthyosis describes a heterogeneous group of keratinisation disorders, most of which are genetic in nature and affect both human beings and animals. It is characterised by an excessive amount of superficial scale on the skin, resembling the scales of a ...
G. Sironi, M. Polli, A.M. De Giovanni, L. Molteni, S. Dardano, M. Longeri, A. M. De Giovanni, P. Parma   +7 more
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Congenital Ichthyosis in Pediatric Age Group: A Clinical study [PDF]

, 2008
INTRODUCTION : Ichthyoses comprise of a heterogeneous group of disorders, due to defect in keratinization or cornification with abnormal differentiation and desquamation of epidermis. It is clinically characterized by dry rough skin with scaling over
Sivayadevi, P
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