Search results
Results From The WOW.Com Content Network
[4] [5] The condition is the most severe form of ichthyosis (except for syndromes that include ichthyosis, for example, Neu–Laxova syndrome), a group of genetic disorders characterised by scaly skin. [8] Harlequin-type ichthyosis is caused by mutations in the ABCA12 gene. [4]
Ichthyosis (also named fish scale disease) [1] is a family of genetic skin disorders characterized by dry, thickened, scaly skin. [2] The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and mode of inheritance (e.g., dominant, recessive , autosomal or X-linked ). [ 3 ]
Cutaneous conditions caused by mutations in structural proteins within the epidermis, excluding keratin proteins Defective protein Conditions(s) Loricrin: Vohwinkel syndrome [nb 1] Progressive symmetric erythrokeratodermia: Filaggrin: Ichthyosis vulgaris Atopic dermatitis
The two main types of human skin are: glabrous skin, the hairless skin on the palms and soles (also referred to as the "palmoplantar" surfaces), and hair-bearing skin. [3] Within the latter type, the hairs occur in structures called pilosebaceous units , each with hair follicle , sebaceous gland , and associated arrector pili muscle. [ 4 ]
PVA usually has an underlying cause, attributed to existing skin diseases and disorders associated with a cutaneous lymphoma or inflammation. [5] Mycosis fungoides is the common lymphoma believed to cause PVA, although it may be considered a precursor when the lymphoma is occult (hidden) and undiagnosed. [ 5 ]
This article provides a list of autoimmune diseases. These conditions, where the body's immune system mistakenly attacks its own cells, affect a range of organs and systems within the body. Each disorder is listed with the primary organ or body part that it affects and the associated autoantibodies that are typically found in people diagnosed ...
X-linked ichthyosis (abbreviated XLI) is a skin condition caused by the hereditary deficiency of the steroid sulfatase (STS) enzyme that affects 1 in 2000 to 1 in 6000 males. [2] XLI manifests with dry, scaly skin [3] and is due to deletions [4] [5] or mutations [6] in the STS gene.
Epidermolytic ichthyosis (EI), [a] is a severe form of dry scaly skin, that initially presents with redness, blisters, erosions, and peeling in a newborn baby. [5] [6] Hyperkeratosis typically develops several months later. [6] Other symptoms include itch, painful fissures, strong body odor, and absence of sweat. [6]