Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis [PDF]
Lamellar Ichthyosis (LI) is a form of congenital ichthyosis that is caused by mutations in the TGM1 gene that encodes for the transglutaminase 1 (TG1) enzyme. Functional inactivation of TG1 could be due to mutations, deletion or insertions. In this study,
Serra, V +16 more
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Two cases of lamellar ichthyosis with unusual hair shaft abnormalities
The authors describe two brothers presenting the clinical picture of lamellar ichthyosis. The scanning electron microscopy and transmission electron microscopy study of their hair demonstrated important recurrent anomalies of the hair ...
R. Piccinno +3 more
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Non-surgical management of ectropion using hyaluronic acid gel with cannula injection [PDF]
The treatment of eyelid ectropion remains challenging. Surgical approaches are more widely used, but techniques using hyaluronic acid have shown increasing promise.
Ana Paula Dornelles Manzoni +4 more
doaj +1 more source
Lamellar ichthyosis. The abnormal stratum corneum has produced what appears as very thick scale on the skin, and with an abnormal barrier layer these patients commonly get secondary staphylococcal and yeast infections.
Bezzant, John L.
core
Prenatal Exclusion of Lamellar Ichthyosis Based on Identification of Two New Mutations in the Transglutaminase 1 Gene [PDF]
Lamellar ichthyosis is a severe, generalized, autosomal recessive genodermatosis characterized clinically by large, parchment-like scales and histologically by acanthosis and marked hyperkeratosis.
Wu, Welby W. +4 more
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Infantile erythrodermic psoriasis: A case report and review of the literature
Erythroderma in infants can be attributed to plenty of causes, the more common ones being nonbullous congenital ichthyosiform erythroderma, lamellar ichthyosis, bullous congenital ichthyosiform erythroderma, severe atopic dermatitis, etc., However, there
Piyush Kumar, Anupam Das, Shvetha Jain
doaj +1 more source
Aberrant Lipid Organization in Stratum Corneum of Patients with Atopic Dermatitis and Lamellar Ichthyosis [PDF]
There are several skin diseases in which the lipid composition in the intercellular matrix of the stratum corneum is different from that of healthy human skin.
Pavel, Stan +6 more
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Oral acitretin treatment in severe congenital ichthyosis of the neonate
Two newborn infants with ichthyosis, one with lamellar ichthyosis and one with nonbullous ichthyosis form erythroderma, who presented at birth with a collodion baby appearance, were treated with acitretin (1 mg/kg/day).
Z Nurhan Saraçoğlu +4 more
doaj
Analysis of the cornified cell envelope in lamellar ichthyosis
BACKGROUND--Loricrin and involucrin are major precursor proteins to the cornified cell envelope expressed late in epidermal differentiation. Involucrin expression starts in the upper spinous layers in normal human epidermis and precedes loricrin ...
Huber, M., Hohl, D., Frenk, E.
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Ichthyosis associated with rickets in two Indian children
We wish to report two cases of rickets due to vitamin D deficiency secondary to underlying ichthyotic skin disorder. The first case is of an 8-year-old male with history of multiple fluid-filled lesions over the body that would rupture to heal with ...
Dimple Kothari +3 more
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