Ichthyosis: Meaning, Types, Causes, Symptoms, Treatment, Ayurveda Understanding

Article by Dr Raghuram Y.S. MD (Ay) & Dr Manasa S, B.A.M.S

Word derivation – The term “Ichthyosis” is derived from the Greek word for fish. This is because the skin in this condition looks like the scales of a fish.  This is the reason why some people call this ‘fish skin disease’ or ‘fish scale’.

What is Ichthyosis ?

Ichthyosis comprises a group of skin conditions that cause dryness and scaling of the skin. The skin in these conditions is itchy, rough and red. The symptoms can be mild or severe. While some types of ichthyosis are limited to skin and cause dryness and scaly skin, the others forms might also cause problems inside the body affecting the internal organs.

Most people have a genetic form of the disease. This is inherited from the parents resulting from a changed gene. On the other hand, some develop a non-genetic disease and this form is called acquired ichthyosis. This condition occurs from another medical disorder or some medications.

Who gets Ichthyosis?

Ichthyosis can affect anyone, there is no exemption. While the disease is usually passed down from parents to children, some people can be the first one in the family to be affected by the disease due to a new mutation in the gene. Others may develop acquired forms of the disease (non-genetic) as said above.

Outlook of Ichthyosis

The outlook varies and depends on the disease type and severity. Many people would need a life-long treatment for ichthyosis so as to manage it to an extent.

What happens in Ichthyosis?

In ichthyosis the person loses the protective barrier that helps keep moisture levels in their skin leading to formation of thick, scaly skin. That is why the skin gets scaly and dry.

Can Ichthyosis be cured?

Ichthyosis cannot be completely curable. Ongoing research works are providing treatment options which would help in managing the symptoms of the disease. The skin needs constant monitoring and pampering. Effective treatments can relieve the scaling and this would make you feel more comfortable.

Types of Ichthyosis

There are more than 30 types of ichthyosis. It also includes the types which are part of some other condition or syndrome. The type of Ichthyosis is determined by identifying the gene mutation, pattern of inheritance, symptoms (their severity, the organs they affect etc) and the age at which the first symptoms of the disease appeared.

The two most common types of Ichthyosis are –

1. Ichthyosis Vulgaris – This is the most common type of the disease. One out of every 250 people suffers from this condition. It is usually mild and appears in the first year of life. In this condition, gray, brown or white scales can be seen in early childhood.
2. X-linked Recessive Ichthyosis – It usually occurs in males. It begins at about 3 to 6 months of life. In comparison to the above mentioned type, this is rare. It is said to affect 1 in 6,000 people. In this condition, the scaling is usually present on the neck, lower part of the face, trunk and legs. The symptoms of this type can worsen over time. It is a risk factor for testicular cancer. Women who are carriers (in some cases) may have labor problems.

Other types of ichthyosis (inherited)

Sl No	Type of Ichthyosis	Features
1	Harlequin Ichthyosis	usually seen at birth presents with thick scaly plaques of skin which cover the whole body can affect facial features may limit movement of joints
2	Epidermolytic Ichthyosis	present right from birth infants have fragile skin and blisters all over the body right from birth scaling develops following disappearance of blisters over period of time on the areas of the body that bend it can have a ridged appearance
3	Congenital Ichthyosiform Erythroderma	present at birth collodion membrane is often present in infants
4	Progressive Symmetric Erythrokeratoderma	usually appears in childhood presents with dry, scaly skin mainly on the limbs, face, wrists, ankles and buttocks
5	Lamellar Ichthyosis	present at birth collodion membrane (tight clear covering) is present all over the body of the infant at birth large and dark plate like scales are formed over most of the body over a period of several weeks once the collodion membrane peels off
6	Erythrokeratodermia Variabilis	usually develops few months after birth has progression during childhood rough, thick or reddened areas of skin are developed on the face, limbs or buttocks the affected areas can spread on the skin over a period of time

Most forms of the disease are very rare.

Cause of Ichthyosis

Gene mutation – All kinds of inherited ichthyosis are caused by gene mutation. Many gene mutations are identified. The pattern of inheritance depends on the type of the disease. Thes mutated genes change the cycle of normal skin growth and shedding. This causes the skin cells to grow faster (than shedding), grow normally and shed slowly or shed quickly and grow slowly. People keep growing new skin and shed old skin continually throughout their lives.

X-linked Ichthyosis – In this condition rough, dark and scaly skin are formed due to the skin cells not properly separating or shedding. It is most commonly found on the trunk or neck. It is caused by a deficiency of steroid sulphatase deficiency.

Inherited Ichthyosis – it is a genetic condition. Gene mutations occurring in ichthyosis affect the proteins that protect the skin and keep it moist. Apart from this they also affect the way the body grows or sheds new skin cells.

One would develop a more serious condition if both parents have this gene in comparison to one of them having the gene.

Acquired Ichthyosis – It occurs in adulthood. Exact causes for this condition are not known. People suffering from this type of ichthyosis often have one of the below mentioned conditions –

• Kidney disease
• Sarcoidosis
• Underactive thyroid gland
• HIV infection
• Cancer (Hodgkin lymphoma)

This condition can also be triggered by some medicines including cancer drugs, protease inhibitors and nicotinic acid.

Inheritance Patterns of Ichthyosis

Dominant – One would inherit one normal and one mutated copy of the gene which causes ichthyosis. Mutated genes are the dominant one and would cause the disease. Parent having a dominant mutation has a 50% chance of passing on this disorder to each of his or her children.

Recessive – In this condition both parents carry only one abnormal gene which is not enough to cause the disease. Both parents do not have any signs of the disease. There would be only 25% chances that the child of parents (both) carrying one recessive gene inheriting both these mutated genes and hence goes on to develop the disease. On the other hand there is a 50% chance that a child who inherits only one mutated recessive gene. These children would not have any noticeable signs they would be a carrier of the disease.

X-linked Ichthyosis – Here the gene mutations are located on the ‘X sex chromosome’. The inheritance pattern of this type of ichthyosis is usually recessive. Females are the ones who are most often affected with this type. Typically they would have one mutated and one normal X chromosome.

Spontaneous Ichthyosis – In this condition, without the family history of ichthyosis gene mutation occurs randomly and is common in dominant and X-linked ichthyosis.

Epidemiology

Ichthyosis vulgaris, the most common type of ichthyosis (accounts to more than 95% of cases) has a prevalence of around 1:100 to 1:250. It might manifest in infancy (during the first year of life) or early childhood, often at birth. It has been observed that the disease improves with age.

Sex and ethnicity – No notable significance of the disease are found in sex or ethnicities.

Mutations in filaggrin gene (FLG mutation) cause ichthyosis vulgaris. In the general population, FLG mutation is 8-10 %. The spectrums of mutations vary according to populations.

2.5-37% patients with atopic dermatitis possess clinical evidence of ichthyosis vulgaris. This is because loss of function mutations in FLG is a major genetic predisposing factor for atopic dermatitis.

Symptoms of Ichthyosis

Symptoms of inherited form of ichthyosis –

Here, the symptoms either appear at birth or in the first few months of life. The main symptoms of this condition are scaly skin which is dry. The scales are formed only on some parts of the body including face, scalp, trunk, stomach, butts and legs.

Appearance of scales – The scales are white, dark brown or gray in color. Thick or thin cracks can be seen within them. Cold and dry weather make dryness and scaling worse and usually get better in warm weather. Scales may appear differently in different cases. They are small and flaky, large, dark and plate like or hard and armor like.

The symptoms can range from mild to severe.

Other signs and symptoms of ichthyosis –

• redness of the skin
• skin peeling / cracking of skin
• itching
• blisters
• tightness of the skin
• formation of lines / thickening of the skin on the palms and soles
• pain

Symptoms based on different types of ichthyosis –

• formation of blisters – these blisters can break which leads to the formation of wounds
• fragile hairs, hair loss
• dryness of the eyes
• difficulty in closing the eyelids
• inability to sweat
• difficulty in hearing
• difficulty in flexing some joints of the body
• eczema

Complications of Ichthyosis

Below mentioned are the complications of ichthyosis –

• frequent infections
• dehydration
• blocked sweat glands – this leads to overheating
• slow growth of hairs on the scalp
• burning of more calories
• depression and low self esteem

Complications in men – Men suffering from ichthyosis are at increased risk for the below mentioned conditions –

• testicular cancer
• low sperm count
• hidden / un-descended testicles

Other complications include vision loss and problems related to the brain and nervous system.

Diagnosis of Ichthyosis

Doctors may diagnose ichthyosis on seeing the dry and scaly skin typical of the disease. You may be advised for a skin biopsy or saliva test (for detecting gene changes).

To determine specific types of the disease in some kinds of congenital ichthyosiform disorders routine histopathology, skin biopsy specimens and electron microscopy may be needed. Genetic analysis / studies for mutations in genes may be required in lamellar ichthyosis, KID syndrome, CHILD syndrome etc.

Tests required in acquired ichthyosis include HIV testing, CBC count with differential and bone marrow aspirate, thyroid function tests, serum angiotensin converting enzyme and lysozyme, chest radiography, serum ANA etc.

Imaging studies – Ultrasonography is helpful in early identification of congenital ichthyosis syndromes and harlequin ichthyosis. Echographic findings are also helpful.

Other tests – Analysis of maternal serum unconjugated estriol is useful to diagnose X-linked recessive ichthyosis and so also the FISH (fluorescence in situ hybridization) analysis of cultured amniotic fluid.

Fetal skin biopsy at 19 weeks estimated gestational age approximately may provide an early diagnosis of certain forms of ichthyosis like Harlequin type.

Differential Diagnosis of Ichthyosis Vulgaris

Below mentioned conditions are included in the differential diagnosis of ichthyosis vulgaris –

• Atopic dermatitis
• Xerosis
• Allergic contact dermatitis
• Irritant contact dermatitis
• Eczema craquele / Asteatotic eczema
• Lamellar ichthyosis
• X-linked Ichthyosis
• Sjogren Larsson Syndrome
• Acquired Ichthyosis

What is the right time to call the doctor?

Skin infections would become common because ichthyosis interferes with its effective barrier. One should contact the doctor or healthcare provider if he or she develops fever or redness of the skin.

Prognosis of Ichthyosis

Ichthyosis can be managed with continued effective treatment and good advice provided to the patient by the physician about skin care. Some kinds of the disease show improvement after childhood.

When the disease that triggers acquired ichthyosis is treated the chances of ichthyosis being treated too is possible. If a drug is the cause of ichthyosis, reducing its dose too shows good prognosis.

The prognosis for inherited cases of ichthyosis has been proven to be good in the majority of patients. They would enjoy normal lifespan and improvement in disease and its symptoms with age. Treatment however is usually continued for life.

On the other hand, rare forms of the disease can be life threatening even in infancy especially if the skin problems are severe or if the condition is associated with some serious disease in some other parts of the body.

Prevention of Ichthyosis

There is no way that ichthyosis can be prevented. There is a risk that the children of parents affected with ichthyosis will also inherit the gene for the disease just as in other genetic diseases.

Prevention of skin infections in ichthyosis – is possible if the patients maintain the skin barrier through emollient use. They soften and moisturize the skin. Petroleum Jelly (petrolatum) is a common ingredient of emollients. This has shown to improve the barrier function and also have anti-inflammatory effects. These properties would help in reducing the likelihood of infections.

Dilute bleach baths improve barrier function and hence reduce skin infections. Antibacterial soaps or antiseptic washes can be used to relieve odor and bacterial overgrowth.

Home care in Ichthyosis

Below mentioned are some tips which can help in easing ichthyosis symptoms and can be done at home –

Use of emollients – it shall be applied on wet skin following a bath / shower, at least once a day. Different types of emollient shall be tried until one finds which works the best. One should not smoke or go near to flames if emollient containing paraffin is being used. Emollient shall be used instead of soap and soap should not be used on affected skin.

Comb – To remove scaly skin on the scalp one should use a comb on wet hair.

Consult – One should talk to his or her skin specialist if any of the treatments cause irritation.

Treatment of Ichthyosis

As already said, ichthyosis cannot be cured. Treatments can help in managing the symptoms i.e. dry and scaly skin.

Below mentioned are the important principles –

• Application – rubbing ointment, lotion or cream to the skin everyday – this would keep the skin moist
• Creams – which are used for application should consist lanolin, alpha hydroxy acids, urea or propylene glycol
• Products having ceramides or cholesterol also act as moisturizers
• Lotion – shall be applied immediately after the bath or shower, on damp skin
• Salt water bath
• Use of pumice stone for rubbing on the skin
• Products having salicylic acid, glycolic acid or lactic acid would help in removing dead skin
• Oral retinoid may be prescribed if there is severe dryness and scaling
• Antibiotic therapy – when bacterial infections of the skin develop in patients with epidermolytic hyperkeratosis
• Bezafibrate (hypolipidemic drug) – to induce the activity of FALDH in patients with Sjogren Larsson Syndrome (wherein there is deficiency of FALDH)

Dermatologist – for skin issues and a therapist or mental health experts – for depression and low self esteem may come in handy.

Eye Care (ocular therapy) – aims at maintaining moisture, integrity and clarity of the cornea since ichthyosis involving the eye or eyelids is associated with high risk of developing corneal dryness and an epithelial scar which can reduce the clarity of eye or even perforation of the cornea. Non-preserved artificial tears and ointment are given in chronic ocular surface disorders associated with ichthyosis, to prevent the complications. Bandage contact lenses and temporary collagen shields would decrease the symptoms and promote surface healing in those cases wherein poor corneal epithelial adhesion is present.

 Topical Therapy – Below mentioned are beneficial as topical agents in different kinds of ichthyosis and should be used as prescribed –

• Topical cyclosporine A 2%
• Humidified atmosphere combined with use of topical moisturizing agents
• Petrolatum ointment and 10% urea cream (for eyelids)
• Salicylic acid 2% and retinoic acid 0.1% ointments
• Calcipotriene ointment

Surgical care – Surgery may be needed in patients of lamellar ichthyosis developing cicatricial ectropion and when danger of corneal breakdown and perforation are noted.

Patient education

Patients should be educated about the disease and let them know that ichthyosis is a chronic condition and they would need long term therapy. When long term therapy is not followed, the defective permeability barrier associated with the disease can result in chronic loss of water and calories. This would cause growth impairment in children.

Research and studies related to Ichthyosis

A study reveals that ‘Ichthyosis considerably impaired quality of life, especially for pediatric patients. Further studies and efforts should be done to manage and treat the pain’.

Research reveals reason for perplexing redness associated with Ichthyosis and other skin diseases.

Many other research works related to Ichthyosis can be found to be documented in “ISG – Ichthyosis Support Group” site.

Ayurveda Understanding of Ichthyosis

Dry and scaly skin is the predominant symptom of ichthyosis. Basically dryness is caused by aggravated vata. Scales are also formed by the aggravated vata only.

Since Ichthyosis is a skin condition we can consider it under the umbrella term (disease) Kushta. Kushta refers to a wide array of skin disorders. Though there are 18 types of Kushta, they are caused by the predominant aggravation of one or more doshas. So, all the vataja types of kushta or kushta having predominance of vata and presenting with dry and scaly skin can be considered as ichthyosis.

Related Reading – Ichthyosis – Ayurveda Understanding