ALTERNATE NAMES

ARCI4B; Autosomal Recessive Congenital Ichthyosis 4B; Autosomal Recessive Congenital Ichthyosis, Harlequin Type Ichthyosis; Harlequin Baby Syndrome; Harlequin Fetus; Harlequin-Type Ichthyosis; Harlequin Type Ichthyosis; HI; Ichthyosis Congenita; Ichthyosis, Congenital, Autosomal Recessive 4b (Harlequin); Ichthyosis Congenita, Harlequin Type; Ichthyosis, Congenital, Autosomal Recessive Type 4B; Ichthyosis Fetalis; Ichthyosis Fetalis, Harlequin Type

DESCRIPTION

Harlequin Ichthyosis (HI) is a rare skin disease caused by changes (mutations) in the ABCA12 gene that is present at birth. It is the most severe type of ichthyosis, which is characterized by scaly, thick, hyperkeratotic (rough) skin. Infants born with HI have hard, thick plates of skin that cracks and splits apart. These plates of skin can pull at and distort facial features and restrict breathing and eating. Infants with this condition may become dehydrated and develop life-threatening infections in their first few weeks of life.

HI affects males and females equally and occurs in approximately one in every 300,000 to 500,000 births annually in the United States.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Children with HI are often diagnosed based on their appearance at birth. Other ways to diagnose HI include:

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  Skin biopsy;

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  Histiological findings of hyperkeratotic skin; and

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  Ultrasound or amniocentesis during the second trimester.

Prenatal genetic testing may reveal mutations in the ABCA12 gene and confirm diagnosis of the condition before birth.

Physical findings: Children with HI may experience various signs and symptoms including:

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  Premature birth;

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  Widespread redness and scales;

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  Out turned eyelids and lips caused by skin tightness;

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  Eating difficulty;

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  Thick, platelike scales of skin at birth;

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  Tight skin with deep cracks (fissures);

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  Dehydration;

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  Flat nose;

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  Fused ears;

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  Small, swollen hands and feet;

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  Abnormal hearing;

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  Frequent respiratory infections;

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  Decreased joint mobility; and

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  Low body temperature.

ICD-9: 757.1

ICD-10: Q80.4

PROGRESSION

Around half of the children affected by HI die within the first few months. Those who survive the first year of life often have long-term problems such as red skin, joint contractures, and delayed growth.

TREATMENT

There is no cure for HI. Infants and newborns require constant supportive care. Although improved treatment options have given babies a better chance at survival, many still die within the first few weeks of life due to complications of the disease.

Supportive treatments may include:

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  Skin treatments such as moisturizing cream, antibiotics, petroleum jelly, or retinoid treatments.

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  A humidified incubator to decrease evaporative losses and thermal instability, improve fluid and electrolyte balance, and enhance skin integrity.

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  Intubation (an artificial ventilation tube into the trachea) is often required until nares (nostrils) are present.

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  Nutritional support with tube feeding is essential until eclabium (outward turning of the lips) resolves and infants can begin nursing.

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  Ophthalmologic consultation is useful for the early management of ectropion (outward turning of the lower eyelid that exposes the inner surface of the eyelid), which is initially pronounced and resolves as scales are shed.

Doctors may need to perform debridement (removing dead, damaged, or infected tissue) on infants and newborns with constrictive bands of hyperkeratosis (thick, rough skin) to avoid digital ischemia (reduced blood supply to the fingers or toes). Occasionally, digital autoamputation (spontaneous loss of a finger or toe) or necrosis will occur due to cutaneous constriction bands (a rare, congenital condition that causes bands to form around limbs or digits). Relaxation incisions have been used to prevent this complication.

Suggested MER for Evaluation:

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  Clinical history and examination that describes the diagnostic features of the impairment; and

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  Biopsy results.

Meets

101.18

108.09

110.08 A or B

Equals