How Do You Treat Harlequin Syndrome?

Harlequin Syndrome and Ichthyosis: Rare Conditions Explained

At first glance, Harlequin syndrome and Harlequin ichthyosis sound theatrical. Both conditions are named after the ‘Harlequin’ character from Italian theatre, known for his striking, half-and-half or diamond-patterned costume. This visual symbolism is key, as both conditions showcase symptoms resembling the character design.

What is Harlequin Syndrome?

The Harlequin syndrome causes sweating and flushing on one side of the body while the other remains unaffected. This is due to the sympathetic nervous system being affected.

Harlequin syndrome is caused by an interruption of the sympathetic nerve supply to one side of the face and body. This leads to a failure of sweating and flushing (vasodilation) on that side during episodes of heat or exertion. It can cause permanent facial discolouration, difficulty regulating body temperature and anxiety regarding the changes.

The symptoms are episodic, meaning they are not constant and are typically triggered by activities that activate the sympathetic nervous system. The condition itself is usually persistent. For example, while exercising, you may feel that one side of your body is sweating and hot to the touch while the other side is unchanged or cold. However, it is a highly treatable syndrome and not life-threatening.

What are the treatment options for Harlequin syndrome?

Harlequin syndrome is a benign and typically permanent condition. Because it does not pose a threat to physical health, aggressive treatment is not always necessary. However, several options are available for those seeking to manage the cosmetic symptoms. They are as follows:

• Stellate Ganglion Block: It is an injection given at the base of the neck. It blocks skin colour changes and flushes.
• Botulinum Toxin: Commonly known as Botox, it helps to control sweating and other symptoms. Additionally, it can also improve your self-esteem by enhancing your appearance.
• Surgery: If a tumour causes Harlequin syndrome, doctors will recommend surgery or radiation to remove it.
• Therapy: People with Harlequin syndrome often face anxiety and depression regarding their symptoms. Therapy can help cope with these feelings.

What is Harlequin Ichthyosis?

Harlequin ichthyosis is a rare and severe genetic skin disorder that affects newborns. Mutations in the ABCA12 gene cause it. This gene is responsible for producing a protein essential for normal skin development.

As a result, the skin forms large, diamond-shaped plates separated by deep cracks. The thick skin restricts movement and affects vital functions, such as eating and breathing. It also affects facial features. Infants with this condition often require intensive medical care from birth.

You may notice symptoms such as dry and scaly skin, abnormal facial structure, and tightness around the eyes and mouth. The condition also makes the skin highly vulnerable to infections and dehydration.

The condition is life-threatening. However, advances in neonatal care and specialised treatments have improved the survival rate and quality of life. Babies surviving with harlequin ichthyosis need lifelong treatment and care.

How Do You Treat Ichthyosis in Newborns?

Treating harlequin ichthyosis centres on multidisciplinary care from the moment of birth. Newborns typically start in a neonatal intensive care unit (NICU), where a humidified incubator helps regulate body temperature and reduce fluid loss. Doctors and nurses take the following measures:

• Frequent Bathing: It softens the plate‑like and thickened skin and helps in the gentle removal of scales.
• Regular Moisturising: Gentle, petrolatum-based emollients are crucial to protect the skin and reduce water loss. The use of keratolytic agents like salicylic acid is generally avoided in newborns due to the high risk of systemic absorption and toxicity.
• Antiseptic or Antibiotic Treatments: Since their skin is covered in fissures, these help control or prevent skin and organ infections.

In severe cases, doctors may prescribe oral retinoids such as acitretin or isotretinoin. It helps promote the shedding of thick skin and alleviate constriction, improving breathing, feeding, and circulation. However, oral retinoids carry significant side effects. The doctors will effectively monitor its timing and stop giving it as soon as possible.

What are the additional treatment options for harlequin ichthyosis?

Apart from the above treatment options, proper management is necessary. They are as follows:

• Intravenous fluids and nutritional support address fluid loss, electrolyte balance, and feeding challenges.
• Ophthalmic lubrication protects eyes affected by ectropion (turned-out eyelids).
• An expert care team, including neonatologists, dermatologists, ophthalmologists, geneticists, nutritionists, physical therapists and surgeons, ensures comprehensive, lifelong monitoring.

Although there is no cure, this intensive approach has dramatically improved survival rates and quality of life for newborns with harlequin ichthyosis. With ongoing care and early intervention, affected infants can grow, develop, and thrive.

Although Harlequin syndrome and ichthyosis derive their names from an Italian character, they are distinct conditions. While Harlequin syndrome affects the nervous system, ichthyosis is a genetic skin condition. Knowing the difference between the two helps you recognise symptoms and seek treatment.