Is ichthyosis vulgaris 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 gene mutation causes ichthyosis?
Ichthyosis vulgaris is caused by loss-of-function mutations in the filaggrin gene (FLG) and is characterized clinically by xerosis, scaling, keratosis pilaris, palmar and plantar hyperlinearity, and a strong association with atopic disorders.
Why do people get 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. Those who inherit two defective genes have a more severe form of ichthyosis vulgaris.
What chromosome is affected by ichthyosis?
The mutated gene in ichthyosis vulgaris is found on chromosome 1q21 and is related to a protein called filaggrin.
What is the life expectancy of someone with ichthyosis?
The prognosis is very poor. Most affected babies do not survive beyond the first week of life. It has been reported that the survival rate varies from 10 months to 25 years with supportive treatment depending on the severity of the condition(8).
What type of disease is lamellar ichthyosis?
Lamellar ichthyosis (LI) is a rare genetic skin disorder that is present at birth. It is one of three genetic skin disorders called autosomal recessive congenital ichthyoses (ARCI). The other two are known as harlequin ichthyosis and congenital ichthyosiform erythroderma.
Is ichthyosis a disability?
Ichthyosis is one of the impairments listed in the Social Security Administrations Blue Book. If your ichthyosis is severe enough (or includes flare-ups that are severe enough) to hinder your ability to work, you may be eligible for Social Security Disability benefits.
What is acquired ichthyosis?
Acquired ichthyosis, usually appearing for the first time in adulthood, is a nonhereditary condition associated with internal disease. Acquired ichthyosis is rare and must be viewed as a marker of systemic disease, including malignancy. Cases have been attributed to the use of certain medications.
What is the morbidity and mortality of ichthyosis vulgaris?
Children and adolescents with hereditary ichthyosis vulgaris may experience some morbidity in terms of cosmesis. Secondary infections may occur in fissures of the hands and feet. The morbidity and mortality of acquired ichthyosis in adults is due to associated internal disease.
What is hereditary ichthyosis vulgaris (HIV)?
Hereditary ichthyosis vulgaris is an autosomal dominant genetic disorder first evident in early childhood. It is the most common form of ichthyosis, accounting for more than 95% of ichthyosis cases.
What causes bathing suit ichthyosis?
Oji V, Hautier JM, Ahvazi B, et al. Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype. Hum Mol Genet. 2006 Nov 1. 15 (21):3083-97. [Medline].