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Ichthyosis
- ... gene have been identified in people with harlequin ichthyosis. This skin condition is characterized by hard, thick ... leads to the skin problems characteristic of harlequin ichthyosis. More About This Health Condition Variants in the ...
- ... TGM1 gene have been found to cause lamellar ichthyosis, which is a condition that causes scaly skin ... cell envelope, causing the skin abnormalities of lamellar ichthyosis. More About This Health Condition In addition to ...
- ... has been identified in people with hystrix-like ichthyosis with deafness (HID), a disorder characterized by dry, scaly skin (ichthyosis) and hearing loss that is usually profound. This ...
- ... to cause a relatively common skin disorder called ichthyosis vulgaris, which is characterized by dry, scaly skin, ... atopic dermatitis are also found in people with ichthyosis vulgaris. As in atopic dermatitis, the mutations lead ...
- ... gene can cause another skin disorder known as ichthyosis with confetti (also called congenital reticular ichthyosiform erythroderma), ... forms patches of normal skin in people with ichthyosis with confetti. More About This Health Condition Cyclic ...
- ... by skin abnormalities including widespread dry, scaly skin (ichthyosis), especially on the limbs. The mutations that cause ... than normal, resulting in the dry, scaly skin (ichthyosis) and other skin abnormalities associated with the variant ...
- ... have been found to cause another form of ichthyosis called self-healing collodion baby. Individuals with this ... analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic ...
- ... responsible for a skin disorder called Curth-Macklin ichthyosis hystrix. This condition involves severe hyperkeratosis on the ... genetic changes in the KRT1 gene called cyclic ichthyosis with epidermolytic hyperkeratosis is similar to epidermolytic hyperkeratosis, ...
- ... analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic ... type lipoxygenases in patients with autosomal recessive congenital ichthyosis. Hum Mutat. 2005 Oct;26(4):351-61. ...
- ... syndrome, a condition characterized by dry, scaly skin (ichthyosis); neurological abnormalities; and eye problems. Many of these ... Jennings MA, Crumrine DA, Williams ML, Elias PM. Ichthyosis in Sjogren-Larsson syndrome reflects defective barrier function ...