A to Z of syndromes

A-Z of syndromes: Ito syndrome

How to recognise and support children with this rare genetic condition

How to recognise and support children with this rare genetic condition.


Although a generic disease, Ito syndrome is not believed to be inherited. Picture: iStock

Children with Ito syndrome have the common feature of unusual pigmentation in a characteristic swirling pattern located around the trunk and with line-like patterns down the legs and arms.

The cause of this is unknown, but it is thought that the condition occurs because of a post-conceptual change in the DNA of the individual. Although it is a genetic disease it is not thought to be inherited. Parents can be assured that there is little chance of reoccurrence in a subsequent child.

Pigmentation issues

Changes in the DNA alters the cells responsible for pigmentation and there is a trajectory of severity that will impact on the level of care, treatments and management the infant and family will require. Ito is a rare condition, which is more common in girls than boys and occurs in all races. 

The initial sign that there is something unusual about the infant may be considered soon after birth because of the skin patterns. The syndrome is also associated with a range of other problems, including neurological, which may include: hemimegalencephaly, seizures and learning difficulties, cardiac defects, ophthalmic anomalies and visual disturbances – such as myopia – which may occur as a direct result of the child’s retinal pigment abnormalities. There may also be hearing loss, the musculoskeletal system can be affected and there may be asymmetrical growth patterns and scoliosis.    

The effects of hypomelanosis on the skin do not require treatment and in some cases, as the child matures, the skin develops normal pigmentation. If the individual is self-conscious about their appearance a skin camouflage cream may be recommended.

Expert help

Specialist teams will be needed to monitor the child’s neurological problems, particularly as the seizures may be difficult to control and the anticonvulsant medication will need to be carefully titrated. The orthopaedic problems may need several corrective procedures to attain optimal results and the child will need ophthalmological monitoring by the appropriate specialists and the deficits in sight corrected as required.

The prognosis may differ between children depending on how severely they are affected, but the family will need appropriate support. There should be multidisciplinary team discussions and this may include teachers for the deaf and the visually impaired. Children should be assessed on an individual basis and, where indicated, a social and educational plan will need to be put in place. Some children may function well in a mainstream school, while others may have special educational needs and require additional support.  

Case study

Isobel (not her real name) was delivered at home. There had been a normal pregnancy and no complications at birth or after. Isobel seemed well and started feeding at the breast without difficulty. Isobel was regarded as a bit of a character and she had an unusual V-shape to her hair line on her forehead, which the midwife had called a ‘widow’s peak’. Her hair, like the rest of her family’s, was dark, but, unlike the others’ hair, it was curly. 

During her first year, the family noticed some unusual skin lesions and creamy swirls on her left torso. She was also overly quiet and not interacting as much as they wished.

The GP referred her to a child development clinic, where she was seen by a range of experts and a geneticist. The diagnosis was eventually made by default, as most of the investigations came back as normal. Giving the family a prognosis was also difficult, but the family were assessed under the Common Assessment Framework and were offered a package of support.

An ophthalmologist picked up an intermittent divergent squint – where one eye diverges when the child considers objects in the distance – but Isobel had good convergence and focus with a closer object. The family were advised to wait rather than have surgery.

Isobel flourished with the support of the early help service. Her personality blossomed with the care of the child therapy team; she particularly enjoyed the splash pool and the sensory room. However, it is likely that she will need special educational needs support as she enters playgroups and early years’ education.

 

Further information


About the authors

Doreen Crawford is nurse adviser with the consultancy Crawford McKenzie and Annette Dearmun is divisional head of nursing and clinical governance, Oxford University Hospital NHS Trust. 

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