This condition is unusual in that the mutations causing it occur in cells outside of the reproductive system and the lesions, primarily benign tumors, have been seen throughout the tissues of the body. This disorder is not inherited in the usual patterns of inheritance.
Defects in normal skin formation occur primarily in the scalp. Often there are areas of the scalp where hair does not grow (alopecia). Benign fatty tumors may occur in the skin around the eye while others are attached to the outside of the eye itself (dermoids and lipodermoids). Other relatively minor eye malformations may be seen. The eyeballs may appear small, the pupils may be small and rarely the eye contains internal malformations. Cysts and fatty tumors are often found in the jaw bones. Small tags of skin are sometimes seen around the eye and the eyelids may have defects called colobomas.
Fatty tumors and cysts can also be found in the brain and along the spinal column. These can also be found in the heart which may also have valves that do not function completely normally. A few patients have some intellectual disability and seizures. Undescended testes and kidney anomalies have been reported.
A gene mutation is considered responsible for this disorder. However, the mutation occurs after fertilization so that it is usually not transmitted in reproductive cells. The mutation leads to activation of a gene that influences growth and development of many structures such as bone, skin and the brain. A three generation family has been reported suggesting autosomal dominant inheritance but it is uncommon for the condition to be transmitted from parent to child.
Pediatricians, dermatologists, and sometimes ophthalmologists may collaborate on the diagnosis based on the skin and eye findings. No treatment is available for this condition but tumor lesions can be surgically removed for cosmetic reasons. Selected lesions may also require removal if located in areas where they impinge on vital structures. Nothing is known regarding longevity.