DISEASE CARD

Disease group: Ectodermal Dysplasia
DISEASE NAME: AEC Syndrome
Synonymous: Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate, Hay-Wells-Syndrome
Estimated prevalence: -
OMIM: 106260
Inheritance: Autosomal Dominant
Gene (s) p63 (603273)

Definition

AEC syndrome is a rare autosomal dominant disorder characterized by ankyloblepharon (fusion of the eyelids), ectodermal dysplasia and cleft lip/palate. It was first described by Hay and Wells in 1976. The disease is caused by mutations in thetranscription factor p63 gene which has a gene map locus 3q27.

Clinical Description

Infants are born with ankyloblepharon, variable ectodermal dysplasia features and cleft lip or palate. Scalp erosions and scalp dermatitis are common clinical findings especially in infancy, when children may suffer recurrent scalp infections. Skin involvement may also be more generalized, with the majority of individuals having widespread dry, atrophic or eczematous skin. Hair is usually sparse, especially on the scalp, but eyebrows and eyelashes are also commonly affected. Hair that does develop is abnormal, coarse, wiry and difficult to comb. Another common clinical feature is hypodontia. When teeth are present however, they are abnormal in appearance, i.e. pointed or ‘peg-shaped’. AEC syndrome is a non-progressive condition. In the majority of cases, areas of scalp dermatitis and erosions improve with age. However, there remains great variability of other ectodermal dysplasia features into adulthood.

Pathogenesis

Many affected individuals have been found to have mutations within the p63 gene. The mutations are most commonly missense mutations which are clustered within the SAM domain of the gene. The p63 gene is a p53 homolog, and is an important transcription factor in the development of normal skin and ectodermal structures. However, its exact function remains poorly understood. AEC syndrome is an autosomal dominant condition which has great variability and clinical overlap with another ectodermal dysplasia syndrome: Rapp-Hodgkin Syndrome.

Diagnosis

Diagnosis is usually made by assessment of the clinical features either at, or soon after birth. In those individuals who have milder phenotypic features, the diagnosis becomes evident when hair, teeth or nails fail to develop normally. If a p63 gene mutation is identified, this will help confirm the diagnosis. No other diagnostic tests are available at present.

Treatment

The management of AEC syndrome requires the expertise from various specialties. Soon after birth, an affected infant will require surgical repair of his/her ankyloblepharon and cleft lip or palate defects. Topical emollients, antiseptic agents and NA dressings are required for any eroded areas which tend to be most severe on the scalp. Antibiotic therapy is often required to treat any secondary infections. Dental treatment is extremely important for these individuals. Many require successive dentures as a child with addition of dental implants and bridges later in adult life.