Results 11 to 20 of about 3,562 (228)

Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis [PDF]

, 2012
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,
Annicchiarico-Petruzzelli, M, Bui, L, Campione, E, Candi, E, Codispoti, A, Didona, B, Melino, G, Palombo, R, Serra, V, Sette, M, Talamonti, E, Terrinoni, A, Zambruno, G   +12 more
core   +3 more sources

Ocular complications of lamellar ichthyosis

Archives of Medicine and Health Sciences, 2018
Ichthyosis is a rare heterogeneous cutaneous disorder characterized by hyperkeratinization of the skin. They may be inherited or acquired following malnutrition, malignancy, or autoimmune disorders. Common forms of ichthyosis include lamellar ichthyosis (
Ibrahim Aliyu
doaj   +2 more sources

Pott disease in a 14-year-old girl affected by congenital lamellar ichthyosis type 3 and diabetes mellitus

Journal of Global Infectious Diseases, 2018
Extrapulmonary manifestations of tuberculosis (TB) are particularly frequent during childhood, and usually involve the lymph nodes and the skull. They are related to predisposing immunosuppression conditions.
Maria Elena Cucuzza, Flavia La Mendola, Angela D'Ambra, Pierluigi Smilari, Filippo Greco, Agata Fiumara, Andrea D Praticò   +6 more
doaj   +2 more sources

Lamellar ichthyosis: a case report

The Turkish Journal of Pediatrics, 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
doaj   +3 more sources

Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation [PDF]

Frontiers in Pediatrics, 2019
Background: Lamellar ichthyosis is an autosomal recessive type of rare skin disorders characterized with defective epidermis leading hyperkeratosis with brownish-gray scales over the body.
Sami Raja Alallasi, Amal A. Kokandi, Babajan Banagnapali, Babajan Banagnapali, Noor Ahmad Shaik, Noor Ahmad Shaik, Bandar Ali Al-Shehri, Nuha Mohammad Alrayes, Jumana Yousuf Al-Aama, Jumana Yousuf Al-Aama, Musharraf Jelani, Musharraf Jelani   +11 more
doaj   +2 more sources

Locked-in Scale: Full Manifestation of Lamellar Ichthyosis in an Adult with Serious Physical and Social Impairments. [PDF]

Ann Dermatol, 2023
Yun DK, Yeom K, Shon U, Choi MS, Park BC, Kim MH.   +5 more
europepmc   +2 more sources

Erosive pustular dermatosis of the scalp associated with lamellar ichthyosis successfully treated with dehydrated human amnion/chorion membrane allograft. [PDF]

JAAD Case Rep, 2018
Kempton DM, Maarouf M, Hendricks AJ, Shi VY.   +3 more
europepmc   +2 more sources

Lamellar congenital ichthyosis in practice of dermatologists

Vestnik Dermatologii i Venerologii, 2017
The paper describes 2 cases of congenital lamellar ichthyosis debuting state «collodion baby». Presented features of clinical manifestations: in newborn all skin is covered with a thin dry yellowish-brown film, resembling collodion, also ectropion and ...
S. V. Koshkin, T. V. Chermnykh, A. L. Evseeva, V. V. Ryabova, A. N. Ryabov   +4 more
doaj   +4 more sources

A cellular disease model toward gene therapy of TGM1-dependent lamellar ichthyosis. [PDF]

Mol Ther Methods Clin Dev
Sercia L, Romano O, Marini G, Enzo E, Forcato M, De Rosa L, De Luca M.   +6 more
europepmc   +3 more sources

Nonsense Variant in CYP4F22 Causes Malformation of Corneocyte Lipid Envelopes in a Lamellar Ichthyosis Patient. [PDF]

Acta Derm Venereol
Fukaura R, Tanahashi K, Omi M, Takeichi T, Akiyama M.   +4 more
europepmc   +2 more sources