X-Linked Ichthyosis (Ichthyosis, X Linked)

Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromosome and transmitted to the male offspring. It is characterized by severe scaling, especially on the extremities, and is associated with steroid sulfatase deficiency.

Also Known As:

Networked: 192 relevant articles (3 outcomes, 22 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	X-Linked Ichthyosis (Ichthyosis, X Linked)
2.	Ichthyosis Vulgaris (Dominant Ichthyosis Vulgaris)
3.	Ichthyosis (Xeroderma)
4.	Psoriasis (Pustulosis Palmaris et Plantaris)
5.	Darier Disease (Darier's Disease)

Experts

1.	Elias, Peter M: 5 articles (03/2015 - 02/2004)
2.	Williams, Mary L: 5 articles (03/2015 - 02/2004)
3.	Gruber, Robert: 3 articles (03/2015 - 04/2010)
4.	Feingold, Kenneth R: 3 articles (03/2014 - 02/2004)
5.	Schmuth, Matthias: 3 articles (01/2013 - 04/2008)
6.	Cuevas-Covarrubias, S A: 3 articles (03/2008 - 03/2001)
7.	Cuevas-Covarrubias, Sergio A: 2 articles (11/2015 - 01/2005)
8.	Choi, Eung-Ho: 2 articles (03/2015 - 03/2014)
9.	Crumrine, Debra: 2 articles (03/2015 - 02/2004)
10.	Oji, Vinzenz: 2 articles (02/2015 - 01/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to X-Linked Ichthyosis:

1.	cholesteryl sulfateIBA 03/01/2014 - "Role of cholesterol sulfate in epidermal structure and function: lessons from X-linked ichthyosis." 04/01/2008 - "For example, in recessive X-linked ichthyosis (RXLI), cholesterol sulfate (CSO(4)) accumulation also produces a permeability barrier defect through lamellar/nonlamellar phase separation. " 04/01/2007 - "STS deficiency in X-linked ichthyosis leads to cholesterol sulfate accumulation, which induces transglutaminase-1 dysfunction. " 11/01/1998 - "[X-linked ichthyosis: development of a new cellular and metabolic model of cholesterol sulfate]." 11/01/1998 - "Recessive x-linked ichthyosis: role of cholesterol-sulfate accumulation in the barrier abnormality."
2.	Acquired ichthyosisIBA 01/01/2001 - "The object of the study was to assess the clinical efficacy of topical tacalcitol against ichthyoses with retentive hyperkeratosis; X-linked ichthyosis (XLI), ichthyosis vulgaris (IV), and acquired ichthyosis (AI). "
3.	1 alpha,24-dihydroxyvitamin D3 (Tacalcitol)IBA 01/01/2001 - "The object of the study was to assess the clinical efficacy of topical tacalcitol against ichthyoses with retentive hyperkeratosis; X-linked ichthyosis (XLI), ichthyosis vulgaris (IV), and acquired ichthyosis (AI). "
4.	Calcitriol (Calcijex)FDA LinkGeneric 01/01/1991 - "The present work compared the clinical efficacy of topically applied 1 alpha,25-dihydroxyvitamin D3 (1 alpha,25-(OH)2D3) in 16 cases with psoriasis vulgaris, 5 with ichthyosis vulgaris and 8 with X-linked ichthyosis. "
5.	Steryl-Sulfatase (Steroid Sulfatase)IBA 10/01/2002 - "In this study we describe an X-linked ichthyosis patient with complete deletion of the steroid sulfatase gene and his mother with somatic and germinal mosaicism for this molecular defect. " 06/01/2000 - "In this study, we examined the mutations of the steroid sulfatase gene in two unrelated X-linked ichthyosis patients without complete deletion of the gene. " 01/22/2000 - "Studies have shown that aberrant recombination between arrays of CRI-S232-homologous repeats flanking the steroid sulfatase ( STS ) gene results in STS deletion, which is manifested clinically as X-linked ichthyosis. " 11/12/1997 - "The present study analyzes the frequency of molecular deletions in the steroid sulfatase (STS) encoding gene in a sample of 50 Mexican subjects with biochemical diagnosis of X-linked ichthyosis (XLI). " 09/01/1995 - "A study of the steroid sulfatase gene in families with X-linked ichthyosis using polymerase chain reaction."
6.	CholesterolIBA 01/01/1990 - "Cholesterol sulphate (CS) has been suggested as an intercellular glue for corneocyte-corneocyte cohesion from studies on patients with recessive X-linked ichthyosis (RXLI). " 01/01/1990 - "Cholesterol sulphate levels in the hair and nails of patients with recessive X-linked ichthyosis." 09/15/1984 - "Topical cholesterol treatment of recessive X-linked ichthyosis." 12/10/1983 - "A reduction in the cholesterol content of the stratum corneum may be responsible for abnormal cornification in recessive X-linked ichthyosis." 12/10/1983 - "Topical cholesterol treatment of recessive X-linked ichthyosis."
7.	DNA (Deoxyribonucleic Acid)IBA 01/01/2005 - "To investigate the gene mutation in a pedigree with X-linked ichthyosis (XLI) and to explore the relationship between the mutation and its clinical manifestations, genomic DNA of affected members, the normal member of the pedigree and 50 unrelated normal members was extracted with a whole blood genomic DNA extraction kit and the DNA was used as a template for the polymerase chain reaction (PCR)-mediated amplification of exon 1 and exon 10 of the STS gene. " 01/01/1998 - "A case of X-linked ichthyosis diagnosed antenatally by molecular analysis of fetal DNA is described. " 03/01/1990 - "The pulsed-field maps were used to demonstrate a deletion of 180 kb of DNA from the X chromosome of an individual with X-linked ichthyosis. " 01/01/1989 - "Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 57 unrelated patients, at DNA and protein levels." 10/01/2013 - "In this study, we report the case of a 12-year-old male with X-linked ichthyosis (XLI) in association with glomerular sclerosis, and our investigation into the deletion pattern of the STS gene and the flanking regions in DNA samples of family members. "
8.	LipidsIBA 01/01/2001 - "Studies examining lipid organization in SC derived from dry or lamellar X-linked ichthyosis skin revealed that in native tissue the role of ceramide 1 and free fatty acids is similar to that observed with mixtures prepared with isolated SC lipids. " 12/01/1981 - "Stratum corneum lipids in disorders of cornification: increased cholesterol sulfate content of stratum corneum in recessive x-linked ichthyosis." 12/01/1981 - "Scales from 8 patients with recessive x-linked ichthyosis, 10 patients with other forms of ichthyosis, and normal human outer stratum corneum were extracted with chloroform/water (1:2:0.8 by vol) and lipids were fractionated by quantitative, sequential thin-layer chromatography. "
9.	Nonesterified Fatty Acids (NEFA)IBA 01/01/2001 - "Studies examining lipid organization in SC derived from dry or lamellar X-linked ichthyosis skin revealed that in native tissue the role of ceramide 1 and free fatty acids is similar to that observed with mixtures prepared with isolated SC lipids. " 01/01/1986 - "Interactions of cholesterol and cholesterol sulfate with free fatty acids: possible relevance for the pathogenesis of recessive X-linked ichthyosis."
10.	Urea (Carbamide)FDA LinkGeneric 12/10/1983 - "In an open prospective half-side trial, creams containing 10% cholesterol or 10% urea were applied to lesions in 20 steroid-sulphatase-deficient male patients with recessive X-linked ichthyosis. "

Therapies and Procedures

1.	Corneal Transplantation (Keratoplasty) 07/01/2008 - "We performed a prospective study of a surgical case series of 5 patients undergoing femtosecond laser-assisted inverted mushroom keratoplasty for pseudophakic bullous keratopathy or pre-Descemet X-linked ichthyosis. "
2.	Skin Transplantation (Skin Grafting) 07/01/2010 - "The authors describe split-thickness skin grafting in one patient with X-linked ichthyosis who sustained a burn with crush injury to his bilateral lower extremities. "
3.	Tissue Therapy (Cell Therapy) 12/01/2008 - "The main selected articles in pediatric dermatology covered the following topics: development and maturation of the epidermal barrier in the neonate, iatrogenic events in the neonatal ICU, diagnostic value of minor birthmarks, complications, risk factors and treatment of hemangiomas, coagulopathy in venous malformations, epidemiology and dermoscopy of congenital and acquired melanocytic nevi in childhood, growth of the body surface area, new pathogenic concepts and treatment in atopic dermatitis, the impact of filaggrin deficiency, hereditary factors in Kawasaki disease, severe and drug resistant cases, management of juvenile dermatomyositis, treatment of childhood psoriasis with biologics, the new classification of epidermolysis bullosa and therapeutic approach with cell therapy, neurological impairment in xeroderma pigmentosum, behavioural anomalies in X-linked ichthyosis, guidelines for neurofibromatosis type I, the genetics of an hereditary hypotrichosis, infantile acne, rosacea in childhood, mast cell disease management and, last but not least, treatment of hair lice with silicone."
4.	Thoracotomy 01/01/2006 - "Unilateral accentuation of X-linked ichthyosis following thoracotomy for lung cancer."
5.	Lasers (Laser) 07/01/2008 - "We performed a prospective study of a surgical case series of 5 patients undergoing femtosecond laser-assisted inverted mushroom keratoplasty for pseudophakic bullous keratopathy or pre-Descemet X-linked ichthyosis. "