Ichthyosis is the group of genetic disorders which result in dry scaly skin. It is due to abnormal epidermal differentiation and is regarded as disorder of keratinization or cornification. It is further classified on the basis of clinical manifestations, genetic presentation and histological findings. The word ichthyosis is derived from ancient Greek word meaning fish, as cracked skin resembling fish scales is the main clinical representation of all kinds of this disease. Itchycal is the herbal product which can be used for the treatment of icthyosis.
Ichthyosis causes and types: Ichthyosis causes and types include: ichthyosis vulgaris which is most common type caused due to mutation of 1q22 gene. A mutation in filaggrin gene causing abnormal production of flaming protein which is normally responsible for protecting epidermis against environmental allergens, water loss and infection. Epidermolytic hyperkeratosis is the type in which mutation in keratin gene is suspected. It is an autosomal dominant disorder in which generalized erythroderma is present at birth which fades leaving a characteristic grey waxy scale which progresses. Lamellar ichthyosis is an autosomal recessive disorder caused due to mutation on multiple gene loci. The children suffering from this form of disease are called collodion babies and are covered at birth by a thickened membrane that sheds subsequently. Some children suffering from this type of disease develop bilateral ectropion of the cicatricial type resulting from excessive dryness of the skin and subsequent contracture. Due to long term exposure corneal ulceration may also occur. In X-linked ichthyosis generalized scaling is present at or some times after birth most prominent over extremities. The gene responsible is steroid sulfatase gene causing deficiency of steroid sulfatase in skin fibroblast and elevation of plasma cholesterol sulfate. In autosomal recessive congenital ichthyosis ceramide synthase protein is defective.
Symptoms of Ichthyosis: The main symptoms of ichthyosis include severely dry skin, scales on skin, possible thickening of the skin and presence of mild itching. This is most commonly prominent over the skin of legs, arms, hands and middle of the body.
Other associated diseases with ichthyosis: Increased risk of testicular cancer and cryptorchidism (non descendent testicles) is seen in X-linked recessive ichthyosis other related diseases are CHILD syndrome, conradi-hunermann syndrome, ichthyosis follicularis with alopecia and photophobia syndrome, keratitis-ichthyosis-deafness syndrome, netherton syndrome, neutral lipid storage disease with ichthyosis, adult refsum disease, ichthyosis and male hypogonadism, sjogren-larsson syndrome, photosensitive trichiodystrophy and gauchers disease type 2
Diagnosis of ichthyosis: Diagnosis of ichthyosis can be done by looking at the skin. Family history also provides evidence of presence of the disease. Other than this genetic testing and biopsy provides a definite prove of presence of disease.
Treatment of ichthyosis: Treatment of ichthyosis is done by the topical application of creams and emollient oils which aids in hydrating the skin. Creams containing lactic acid are very beneficial. Other than this propylene Glycol and retinoids are also used. Effect of sunlight is controversial. In some cases dead skin sloughs off better when wet and tanned on the other hand effects of sunlight can be damaging for dry skin.