X-linked ichthyosis (abbreviated XLI) is a skin condition caused by the hereditary deficiency of the steroid sulfatase (STS) enzyme that affects 1 in...

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

slowly progressive muscle weakness of the legs and pelvis. X-linked ichthyosis, a form of ichthyosis caused by a hereditary deficiency of the steroid sulfatase...

(ATR-X) X-linked dominance X-linked ichthyosis X-linked juvenile retinoschisis X-linked lymphoproliferative syndrome X-linked mental retardation X-linked mental...

homodimer. A congenital deficiency in the enzyme is associated with X-linked ichthyosis, a scaly-skin disease affecting roughly 1 in every 2,000 to 6,000...

abnormal desquamation. In pathologic desquamation, such as that seen in X-linked ichthyosis, the stratum corneum becomes thicker (hyperkeratosis), imparting...

systemic lysosomal storage diseases, and several skin diseases (X-linked ichthyosis, keratosis follicularis spinolosa decalvans). Historically, an accumulation...

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

sulfate in normal desquamation and the pathogenesis of recessive X-linked ichthyosis". The Journal of Clinical Investigation. 74 (4): 1414–1421. doi:10...

cholesterol sulfate in the skin is implicated in the pathophysiology of X-linked ichthyosis, a congenital disorder in which STS is non-functional and the body...

Wolf–Hirschhorn syndrome (4p- syndrome) X-linked ichthyosis (steroid sulfatase deficiency, X-linked recessive ichthyosis) X-linked recessive chondrodysplasia punctata...

defining the basic biochemical defect in a skin disease, known as x-linked ichthyosis. Dr. Larry Shapiro's discovery that this was a hereditary disease...

Genodermatosis has many types, many of which are rare. Ichthyosis refers mainly to ichthyosis vulgaris, a common genodermatosis, people with this disease...

male had ichthyosis, hypogonadism, short stature, epilepsy, anemia, and polyneuritis. In 1929, he described a 29-year-old female with ichthyosis, hypogonadism...

many teeth, increasing their transparency to x-rays. Originally believed to be inherited in an X-linked recessive fashion, gerodermia osteodysplastica...

Hopkins University, Ichthyosis follicularis, atrichia and photophobia Boente M del, Bibas-Bonet H, Coronel AM, Asial RA; Atrichia, ichthyosis, follicular hyperkeratosis...

linkage to type I ocular albinism are of the following:  X-linked ichthyosis Kallmann syndrome X-linked recessive chondrodysplasia punctata Microphthalmia with...

which are characterized primarily by myopathy and ichthyosis, respectively. Normally, the ichthyosis that is present is typically non-bullous congenital...

deafness Ichthyosis alopecia eclabion ectropion mental retardation Ichthyosis and male hypogonadism Ichthyosis bullosa of Siemens Ichthyosis cheek eyebrow...

effects without other estrogenic effects. Azacosterol Desmosterolosis X-linked ichthyosis Clomestrone Mytatrienediol Elks J (14 November 2014). The Dictionary...

Tranebjaerg–Svejgaard syndrome, also known as X-linked mental retardation associated with psoriasis is a very rare genetic disorder which is characterized...

Duchovny) and Dana Scully (Gillian Anderson) who work on cases linked to the paranormal, called X-Files. In this episode, Mulder and Scully investigate a series...

(photosensitive), and TTD. Features of TTD can include photosensitivity, ichthyosis, brittle hair and nails, intellectual impairment, decreased fertility...

syndrome Hystrix-like ichthyosis–deafness syndrome Ichthyosis follicularis with alopecia and photophobia syndrome Ichthyosis prematurity syndrome Idiopathic...

Wiskott–Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema, thrombocytopenia (low platelet count), immune deficiency,...

X chromosome X hyperactivation X linkage X linked X-and-Y linkage X-inactivation X:A ratio Xenograft XYY XYY syndrome Y chromosome Y linkage Y linked...

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

and novel mutations in ichthyosis bullosa of Siemens". J. Invest. Dermatol. 111 (5): 817–21. doi:10.1046/j.1523-1747.1998.00371.x. PMID 9804344. Rothnagel...

Netherton syndrome is a severe, autosomal recessive form of ichthyosis associated with mutations in the SPINK5 gene. It is named after Earl W. Netherton...

subcortical infarcts and leukoencephalopathy Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome Cerebral gigantism Cerebral palsy Cerebral vasculitis...