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Genetic Simple Ichthyosis

Ichthyosis vulgaris, also known as common ichthyosis or ichthyosis simplex, is autosomal semi-dominant. It is the most common variation if this disorder and accounts for 95% of all cases. Ichthyosis vulgaris is usually diagnosed early in life but generally is not present at birth. Characteristics of this variation include flat, white scaly skin. These scales can be darker on the arms and legs and are especially prominent on the palms of hands and soles of feet. There can also be increased scaling around hair follicles. Presence of this disorder is diagnosed with a physical exam but a biopsy can also be helpful in confirmatory diagnosis.

Harlequin Ichthyosis, also known as harlequin fetus, is autosomal recessive. This the rarest and most severe form of the disorder. Due to the fact that this form of the disorder is autosomal recessive, the recessive gene must be provided by both parents to express the disorder. Since it is two recessive genes required for the disorder to be present, it is possible that neither parents have symptoms. Harlequin Ichthyosis is present at birth and is characterized by very thick sections of skin that crack and split. This can cause severe distortion of facial features. The thick plates of skin crack so much that raw, premature skin is exposed. This can put the patient at risk for infection. In addition, the thick skin can restrict the movement of the chest wall, making breathing and feeding difficult. Due to the severity of the disorder, previously many babies born with Harlequin Ichthyosis did not survive the first few days of life. Advancements in medicine and understanding of the disease have allowed for increased survival, with many people leading a relatively normal life with appropriate and diligent treatment.

Non-Bullous Ichthyosiform Erthyroderma or Congenital Ichthyosiform Erythroderma (CIE) is a rare autosomal recessive disorder that affects 1:100,000 people. The skin is very thin and red with white or flesh colored scales, and nails are brittle. The skin may also be itchy. CIE commonly presents itself after Collodion Baby and the condition is lifelong. The severity of CIE can vary largely between individuals. Due to the inability to sufficiently regulate temperature, treatment includes moisturizing of the skin to protect heat from being lost. Also, many CIE patients are unable to regulate their temperature due to their inability to sweat. It is important as these patients age, to be cognizant of this in hot weather or while participating in sports. As with Collodion Baby, it is not uncommon for babies to require prolonged hospitalizations after birth. These hospitalizations may also include artificial nutrition. Diagnosis is confirmed with genetic testing of the blood.

Genetic Disease with Ichthyosis

CHILD syndrome, also known as congenital hemidysplasia with ichthyosiform erythroderma and limb defects, is X-linked dominant. This is a very rare variation in which symptoms are most commonly expressed unilaterally. Poor development of the internal organs (brain, heart, kidneys and endocrine glands) on the affected side is a rare but defining characteristic of this disorder. In addition to poor internal organ development, the bones and musculature of the limbs are underdeveloped. This is a more common characteristic. The nails appear an abnormal color and there is patchy hair loss on the affected side. The areas of skin involvement are distinctively patterned; red, patchy and with a greasy scale. This can occur unilaterally or in patchy areas all over the body. Diagnosis of CHILDS syndrome is confirmed through analysis of cellular DNA.

Netherton Syndrome is a rare autosomal recessive defect that presents itself at birth. Babies present with very red and cracked skin, appearing as though their skin as been scalded with hot water. The hair on the skin is very fragile and short. Complications of this variation can include failure to thrive due to the constant leakage of moisture and proteins through the skin. Temperature regulation is also difficult due to the loss of heat through the skin. Babies may require supplemental feeding through the use of nasogastric feeding tubes or parenteral nutrition (when nutrition is delivered intravenously). Another serious complication of this variation of Ichthyosis is a very high risk for bacterial and fungal infections in the skin. Moisturizing creams and ointments should be applied frequently throughout the day to prevent drying and keep the skin protected. The use of antiseptic and antimicrobial soaps can also help to prevent infection. Diagnosis of Netherton Syndrome is confirmed through analysis of cellular DNA but hair analysis can also aid in clinical diagnosis.

Collodion Baby is another very rare variation that occurs in only 1:100,000 babies. This variation presents itself at birth with the child being covered in a very tight, shiny film that appears almost as though they are covered in Vaseline. Therefore the eyelids and lips are held open due to the tightness of the skin. The parchment like skin usually sheds itself over the course of 2-4 weeks. Shedding may reveal normal skin but it may also reveal another form of Ichthyosis. It is important to keep the skin moisturized and many babies spend time shortly after birth in a humidified incubator. Diagnosis is done by physical exam, as there is no genetic testing for Collodion Baby.

Non-genetic Ichthyosis

Acquired Ichthyosis occurs later in life and is related to development of other diseases or conditions. Some systemic diseases and disorders that can cause Ichthyosis are leprosy, hypothyroidism, lymphoma and acquired immunodeficiency disorder (AIDS). The presence of Ichthyosis is not necessarily indicative of these medical problems and biopsy will not confirm their diagnosis. Sarcoidosis, however, does manifest ichthyosis that when biopsied shows the diseases typical granulomas. Another cause of acquired Ichthyosis is drug use. Drugs causing Ichthyosis are nicotinic acid, triparanol and butyrophenones.

Emotional and Psychological Effects

Being different and living with an obvious skin condition can be difficult at times and especially for children. During the middle school years, children are becoming aware that not everyone is the same and noticing the differences in others. It is important to provide support for both the patient and family members of those suffering from Ichthyosis. Uneducated individuals often are concerned that this skin condition is contagious, leading to isolation of the patient. Keeping people educated and spreading awareness of the disease can help to reduce the amount of isolation one suffering with Ichthyosis may feel. Support groups are an excellent way for patients with Ichthyosis to get the psychological support and understanding that they need.          

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