Results 101 to 110 of about 3,562 (228)

Lamellar icthyosis with bilateral cicatricial ectropion: Case report with review of the literature

Medical Journal of Dr. D.Y. Patil University, 2015
Lamellar ichthyosis (LI), is a rare genodermatoses, that appears at birth and continues throughout a person's life with an autosomal recessive mode of inheritance.
Sonia P Jain
doaj   +1 more source

Thematic review series: Skin Lipids. Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism

Journal of Lipid Research, 2008
Many of the ichthyoses are associated with inherited disorders of lipid metabolism. These disorders have provided unique models to dissect physiologic processes in normal epidermis and the pathophysiology of more common scaling conditions.
Peter M. Elias, Mary L. Williams, Walter M. Holleran, Yan J. Jiang, Matthias Schmuth   +4 more
doaj  

The successful treatment of Lamellar Ichthyosis-a plastic surgeons perspective. [PDF]

J Surg Case Rep, 2023
Johnson M, Mowatt C, Scott K.
europepmc   +1 more source

Harlequin ichthyosis in an African child: Case report [PDF]

, 2012
Severe congenital skin abnormalities are a rare event. This case is unique in that it is a case of harlequin ichthyosis in sub-sahara Africa in a child of African origin and elaborates the challenges faced in its management.
Gatinu, BW, Kimani, E, Mbithe, J, Migowa, AN, Murungi, CW, Nduati, R, Ochieng, R, Okiro, P, Rana, FS   +8 more
core   +2 more sources

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

A Mouse Model of Harlequin Ichthyosis Delineates a Key Role for Abca12 in Lipid Homeostasis [PDF]

, 2008
Harlequin Ichthyosis (HI) is a severe and often lethal hyperkeratotic skin disease caused by mutations in the ABCA12 transport protein. In keratinocytes, ABCA12 is thought to regulate the transfer of lipids into small intracellular trafficking vesicles ...
Bahlo, Melanie, Collinge, Janelle E., de Graaf, Carolyn A., Ellis, Sarah, Hacking, Douglas F., Hilton, Adrienne A., Hilton, Douglas J., Kile, Benjamin T., Meikle, Peter J., Mukhamedova, Nigora, Slattery, Keith, Smyth, Ian, Sviridov, Dmitri   +12 more
core   +3 more sources

Collodion Skin in the Neonate due to Lamellar Ichthyosis [PDF]

, 1952
H. V. L. Finlay, J. P. Bound
openalex   +1 more source

Lamellar ichthyosis [PDF]

, 2020

openalex   +3 more sources

Lamellar ichthyosis (collodian baby) with severe bilateral ectropion

Indian Journal of Ophthalmology, 1988
A case of lamellar ichthyosis (collodian baby), is being reported. Skin biopsy has confirmed the diagnosis. Severe bilateral ectropion of thee eyelids was the prominent feature. Management of such cases has been briefly discussed.
Boparai M, Dash R, Sohi B
doaj  

Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR9C7 [PDF]

, 2017
journal ...
74646, 74647, 74648, 74649, 74650, 74651, 74652, 74653, 74654, 74655, Akiyama, M., Kono, M., McGrath, J.A., Nomura, T., Shimizu, H., Simpson, M.A., Sugiura, K., Takama, H., Takeichi, T., Watanabe, D.   +19 more
core   +1 more source