Lamellar ichthyosis information

Lamellar ichthyosis, also known as ichthyosis lamellaris and nonbullous congenital ichthyosis, is a rare inherited skin disorder, affecting around 1 in...

X-linked). Ichthyosis comes from the Greek ἰχθύς ichthys, literally 'fish', since dry, scaly skin is the defining feature of all forms of ichthyosis. The severity...

characteristic of harlequin ichthyosis. Mutations in the ABCA12 gene also cause another severe skin disorder, lamellar ichthyosis type 2. People with this...

cancers. It is used to treat harlequin-type ichthyosis, a usually lethal skin disease, and lamellar ichthyosis. It is a retinoid, meaning it is related to...

(November–December 2017). "Psedoanihum and autoamputation associated with lamellar ichthyosis". Indian Journal of Dermatology, Venereology and Leprology: 728.{{cite...

syndrome) Ichthyosis linearis circumflexa Ichthyosis prematurity syndrome Ichthyosis vulgaris (autosomal dominant ichthyosis, ichthyosis simplex) Ichthyosis with...

heterozygous or homozygous variety, which leads to the expression of lamellar ichthyosis as a result of abnormal cross-linkaging of the cornified cell envelope...

sometimes used, but may be considered offensive when applied to people). Lamellar ichthyosis, also called "fish scale disease", is an inherited condition in which...

required. Mutations in keratinocyte transglutaminase are implicated in lamellar ichthyosis. As of late 2007, 19 structures have been solved for this class of...

recessive inactivating mutations of CYP4F22 are associated with the lamellar ichthyosis subtype of congenital ichthyosiform erythroderma in humans. Humans...

Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome is a neurocutaneous condition caused by mutation in the SNAP29 gene. CEDNIK syndrome is...

"Oral liarozole in the treatment of patients with moderate/severe lamellar ichthyosis: Results of a randomized, double-blind, multinational, placebo-controlled...

markedly increased in inflammatory skin diseases such as psoriasis Lamellar ichthyosis involves a decrease in expression of involucrin. This decrease could...

Recessive loss-of-function mutations in TGM1 have been shown to cause lamellar ichthyosis, a disease characterized by excessive scaling and shedding of the...

mutations have been reported in NIPAL4. Lamellar Ichthyosis Congenital ichthyosiform erythroderma Ichthyosis Skin GRCh38: Ensembl release 89: ENSG00000172548...

mutations in ALOX3 are also associated with the human disease lamellar ichthyosis (see Ichthyosis § Types – item 5 in the table). Two lipoxygenases may act...

limited to General Ichthyosis. Congenital ichthyosis[citation needed] Lamellar ichthyosis[citation needed] Harlequin type Ichthyosis[citation needed] Scarring...

known as "Ichthyosis deafness intellectual disability skeletal anomalies". The primary symptoms of Ruzicka Goerz Anton syndrome include ichthyosis, deafness...

12(R)-lipoxygenase pathway. Mutations in this gene are the cause of ichthyosis lamellar type 3. CYP4F22, like other CYP4F proteins, is a Cytochrome P450...

recessive inactivating mutations of CYP4F22 are associated with the Lamellar ichthyosis subtype of Congenital ichthyosiform erythrodema in humans. 6) CYP4F2...

Relapsing linear acantholytic dermatosis List of cutaneous conditions Lamellar ichthyosis – Possible differential diagnosis "OMIM Entry - # 275210 - RESTRICTIVE...

Gene Protein product Resulting condition(s) ABCA12 Harlequin ichthyosis Lamellar ichthyosis ABCB1 P glycoprotein ABCC6 Pseudoxanthoma elasticum ABCC7 CFTR...

differentiation of keratinocytes. Mutations in this gene are associated with lamellar ichthyosis type 4. [provided by RefSeq, Dec 2011]. GRCh38: Ensembl release 89:...

crystals in the cornea cause tinsel-like corneal opacities. Ichthyosis: X-linked ichthyosis is a genetic skin disorder caused by the hereditary deficiency...

(November 1996). "Corrective gene transfer in the human skin disorder lamellar ichthyosis". Nature Medicine. 2 (11): 1263–1267. doi:10.1038/nm1196-1263. PMID 8898758...