Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR 9C7
نویسندگان
چکیده
منابع مشابه
Skin diseases associated with the depletion of stratum corneum lipids and stratum corneum lipid substitution therapy.
The skin is the largest organ of the body, whose main function is to protect the body against the loss of physiologically important components as well as harmful environmental insults. From the inside to the outside, the skin comprises three major structural layers: the hypodermis, the dermis and the epidermis. The epidermis contains four different sublayers, the stratum corneum (SC), stratum g...
متن کاملLamellar ichthyosis caused by a previously unreported homozygous ALOXE3 mutation in East Asia.
Autosomal recessive congenital ichthyosis (ARCI) includes a wide range of ichthyosis phenotypes, including harlequin ichthyosis, lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE), and self-improving collodion ichthyosis (SICI) (1, 2). To date, 9 causative genes for ARCI have been identified (1, 2). ALOXE3 is a causative gene in LI as well as CIE, and it encodes the eLOX-3 li...
متن کاملSkin Diseases Associated with the Depletion of Stratum Corneum Lipids and Stratum Corneum Lipid Substitution Therapy
The skin is the largest organ of the body, whose main function is to protect the body against the loss of physiologically important components as well as harmful environmental insults. From the inside to the outside, the skin comprises three major structural layers: the hypodermis, the dermis and the epidermis. The epidermis contains four different sublayers, the stratum corneum (SC), stratum g...
متن کاملcombined choroidal neovascularization and hypopituitarism in a patient with homozygous mutation in methylenetetrahydrofolate reductase gene
we report a case of choroidal neovascularization (cnv) secondary to methylenetetrahydrofolate reductase (mthfr) gene mutation in a 20-year-old male patient with hypopituitarism. treatment with three consecutive injections of intravitreal ranibizumab (anti-vascular endothelial growth factor) resulted in significant improvement of the patient’s vision and the appearance of the macula. a search ...
متن کاملLamellar Ichthyosis with Rickets
Lamellar ichthyosis (LI) is a rare genetic disorder with autosomal recessive inheritance. It is equally seen in both sexes and usually manifests at birth. The child presents as a collodion baby. The erythema is minimal or absent; but when present, it is maximum on the face. The scaling is generalized, accentuated on lower extremities and flexural areas. Rickets is a condition in which there is ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: British Journal of Dermatology
سال: 2017
ISSN: 0007-0963,1365-2133
DOI: 10.1111/bjd.15315