Results 91 to 100 of about 4,560 (196)

Corneal Perforation as a Rare Ocular Manifestation in Lamellar Ichthyosis: Case Report and Literature Review. [PDF]

Indian Dermatol Online J, 2023
Peyman A, Pourazizi M, Dehghani S, Abtahi-Naeini B.   +3 more
europepmc   +1 more source

Prenatal Exclusion of Lamellar Ichthyosis Based on Identification of Two New Mutations in the Transglutaminase 1 Gene

, 1998
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., Elder, James T., Bichakjian, Christopher K., Goldberg, Simon, Nair, Rajan P.   +4 more
core   +1 more source

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   +1 more source

Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population. [PDF]

Int Ophthalmol, 2023
Macriz-Romero N, Vera-Duarte GR, Guerrero-Becerril J, Chacón-Camacho OF, Astiazarán MC, Zenteno JC, Graue-Hernandez EO.   +6 more
europepmc   +1 more source

Hiperqueratose epidermolítica em gêmeas monozigóticas: relato de caso e revisão de literatura. [PDF]

, 2007
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Sens, Mariana Mazzochi
core  

Aberrant Lipid Organization in Stratum Corneum of Patients with Atopic Dermatitis and Lamellar Ichthyosis

, 2001
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, Vissers, Debby C.J., Bouwstra, Joke A., Pilgram, Gonneke S.K., Koerten, Henk K., Lavrijsen, Sjan P.M., van der Meulen, Hans   +6 more
core   +1 more source

Severe Bilateral Ectropion in Lamellar Ichthyosis: A Case Report. [PDF]

Am J Case Rep, 2022
Moustaine MO, Frarchi M, Haloui M, Chabbab FZ.   +3 more
europepmc   +1 more source

Effective treatment of severe thermodysregulation by oral retinoids in a patient with recessive congenital lamellar ichthyosis

, 2008
Ichthyoses are a heterogenous group of keratinization disorders, which are often associated with hypohidrosis. We report a 42-year-old man with generalized thick brownish scales and severe thermodysregulation leading to heat intolerance.
Traupe, H., Hausser, Ingrid, Hennies, Hans C., Oji, Vinzenz, Emmert, Steffen, Haenssle, H.A., Oji, V., Neumann, C., Emmert, S., Hausser, I., Haenssle, Holger Andreas, Traupe, Heiko, Hennies, Hans Christian, Finkenrath, A.   +13 more
core   +1 more source

Bilateral viral keratitis in lamellar ichthyosis: A rare ocular manifestation. [PDF]

Indian J Ophthalmol, 2022
Dhakshini LS, Rashmita R, Christy JS.
europepmc   +1 more source

Autosomal dominant lamellar ichthyosis due to a missense mutation in the gene NKPD1

The identification of monogenic causes for cornification disorders has enhanced our understanding of epidermal differentiation and skin barrier function.
Komlosi, Katalin, Hausser, Ingrid, Kopp, Julia, Sandhoff, Roger, Oji, Vinzenz, Fischer, Judith, Hsu-Rehder, Hao-Hsiang, Alter, Svenja, Glocker, Cristina, Zimmer, Andreas D., Hotz, Alrun   +10 more
core   +1 more source