Does ichthyosis affect the brain?
Although affected patients share the cutaneous feature of ichthyosis, there is variability in the nature and severity of neurologic disease. Impaired cognition, spasticity, sensorineural deafness, visual impairment, and/or seizures are the primary neurologic findings.
What causes ichthyosis?
Ichthyosis vulgaris is commonly caused by a genetic mutation that’s inherited from one or both parents. Children who inherit a defective gene from just one parent have a milder form of the disease.
Is ichthyosis an autoimmune disease?
The association of autoimmune conditions with acquired ichthyosis could indicate that an abnormal host immune response, probably against components of the granular cell layer in particular the keratohyalin granules, may have a role in the pathogenesis.
What is a Harlequin baby?
Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. Infants with this condition are born with very hard, thick skin covering most of their bodies. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures).
Why do my legs look like fish scales?
Ichthyosis is a group of about 20 skin conditions that cause skin dryness and scaling. The condition gets its name from the Greek word for fish, because the skin looks like fish scales. You might also hear it called fish scale or fish skin disease.
Why does my legs look like snake skin?
Ichthyosis vulgaris, also known as common ichthyosis or fish scale disease, is a skin condition resulting in scaly skin, especially on the arms and legs. Its name is derived from the Greek word meaning “fish.”
What is Hyperimmunoglobulin E syndrome?
(Hyperimmunoglobulinemia E Syndrome; Buckley Syndrome) Hyper-IgE syndrome is a hereditary immunodeficiency disorder characterized by recurring boils, sinus and lung infections, and a severe rash that appear during infancy. Levels of immunoglobulin E (IgE) are very high.
What is Artemis deficiency?
Artemis deficiency is a rare form of autosomal recessive radiosensitive SCID that results in a T-B-NK+ phenotype. It is caused by mutations in the DCLRE1C gene.
What is a collodion baby?
The term collodion baby (CB) refers to a newborn whose entire body is covered with an adherent, supple, parchment-like membrane. 1. The condition is usually associated with ectropion, eclabium, hypotrichosis, hypoplastic nasal and auricular cartilage, and pseudocontractures.
What does ichthyosiform erythroderma look like on one side?
The skin is usually dry, itchy, red and scaly (ichthyosiform erythroderma) on one side of the body, although minor skin involvement in the shape of lines or segments may occur on the opposite side of the body. Bands of normal skin may be found on the affected side as well.
What is the difference between ichthyosis and child syndrome?
General Discussion. CHILD syndrome (an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects) is an inherited disorder, affecting primarily women, that is characterized by ichthyosis-like skin abnormalities and limb defects on one side of the body.
How does muscle atrophy affect the human body?
However, excessive protein degradation in skeletal muscle, and the ensuing muscle loss (cachexia), is highly detrimental for the economy of the human body and can lead to death. Moreover, excessive loss of muscle mass is a poor prognostic indicator and can impair the efficacy of many different therapeutic treatments.
What are the symptoms of neuromuscular muscle atrophy?
Muscle atrophy may accompany other symptoms affecting the neuromuscular system including: Gradual difficulty walking and speaking, memory loss, tingling or weakness of extremities Symptoms of multiple sclerosis, such as weakness, numbness or tingling, vision problems, unsteady walk, fatigue, and depression