Ichthyosis-Cheek-Eyebrow Syndrome

At a glance

It is a very rare genetic disorder characterized by ichthyosis vulgaris associated with sparse lateral eyebrows. Other features include prominent and full cheeks, craniofacial and musculoskeletal defects, such as high-arched palate, kyphoscoliosis, anterior chest deformity, and pes planus.

Synonym

Sometimes called the ICE Syndrome.

History

This medical condition was first described by E Sidransky et al in 1987. They reported a family of four generations affected with ichthyosis vulgaris, prominent and full cheeks, and sparse lateral eyebrows. Other features included some craniofacial and musculoskeletal defects, described as high-arched palate, kyphoscoliosis, anterior chest deformity, and pes planus.

Genetic inheritance

Autosomal dominant inheritance has been advocated.

Clinical aspects

Acronymic syndrome that is characterized by the presence of ichthyosis vulgaris, prominent and full cheeks, and sparse lateral eyebrows. Other features involve the head (brachycephaly, folded helix, large nose, high-arched palate), thorax and spine (kyphoscoliosis, pes planus, pectus excavatum or carinatum, asymmetrical rib cage with abnormally placed nipples), and limb (flat foot, genu valgum, arachnodactyly of toes and fingers).

Precautions before anesthesia

The presence of craniofacial anomalies may impact the airway. It is essential to ensure that a proper evaluation of the airway is conducted before anesthesia. Also, preparation for unexpected difficult airway must be done.

Anesthetic considerations

Cutaneous lesion could make venous access difficult. Perimedullar blockade is not contraindicated however could be difficult to realize because of the presence of kyphoscoliosis and skin lesions. Careful intraoperative monitoring is needed because of skeletal deformation. Due to the craniofacial anomalies, proper preparation for an unexpected difficult airway management must be done.

References