Ichthyosis congenita
| Harlequin-type ichthyosis | |
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| Synonyms | Harlequin ichthyosis, hyosis fetalis, keratosis diffusa fetalis, harlequin fetus, ichthyosis congenita gravior |
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| Harlequin fetus (1886) | |
| Specialty | Dermatology |
| Symptoms | Very thick skin which cracks, abnormal facial features |
| Complications | Breathing problems, infection, problems with body temperature, dehydration |
| Usual onset | Present from birth |
| Causes | Genetic (autosomal recessive) |
| Diagnostic method | Based on appearance and genetic testing |
| Similar conditions | Ichthyosis congenita, Lamellar ichthyosis |
| Treatment | Supportive care, moisturizing cream |
| Medication | Antibiotics, etretinate, retinoids |
| Prognosis | Death in the first month is relatively common |
| Frequency | 1 in 300,000 |
| Classification |
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| External resources |
Harlequin-type ichthyosis is a genetic disorder which results in thickened skin over nearly the entire body at birth. The skin forms large, diamond-shaped plates that are separated by deep cracks. They affect the shape of the eyelids, nose, mouth, and ears, and limit movement of the arms and legs. Restricted movement of the chest can lead to breathing difficulties. These plates fall off over weeks. Other complications can include premature birth, infection, problems with body temperature, and dehydration.
Harlequin-type ichthyosis is due to mutations of the ABCA12 genes. It is inherited from a person's parents in an autosomal recessive manner. Diagnosis is often based on appearance at birth and confirmed by genetic testing. Before birth amniocentesis or ultrasound may support the diagnosis.
There is no cure. Early in life constant supportive care is typically required. Treatments may include moisturizing cream, antibiotics, etretinate, or retinoids. It affects about 1 per 300,000 births. Both sexes are affected equally commonly. Long term problems are common. Death in the first month is relatively common. The condition was first documented in 1750.
Newborns with harlequin-type ichthyosis present with thick, fissured armor-plate hyperkeratosis. Sufferers feature severe cranial and facial deformities. The ears may be very poorly developed or absent entirely, as may the nose. The eyelids may be everted (ectropion), which leaves the eyes and the area around them very susceptible to infection. Babies with this condition often bleed during birth. The lips are pulled back by the dry skin (eclabium). Joints are sometimes lacking in movement, and may be below the normal size. Hypoplasia is sometimes found in the fingers. Polydactyly has also been found on occasion. In addition, the fish mouth appearance, mouth breathing, and xerostomia place affected individuals at extremely high risk for developing rampant dental decay.
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Wikipedia