AEC Syndrome

AEC is an acronym for Ankyloblepharon-Ectodermal Defects Cleft Lip/Palate. The disorder is characterized by cleft lip/palate, unilateral or bilateral fusion of the eyelids, hair anomalies, onychodystrophy, hypohidrosis, and dental anomalies.

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Hay Wells Syndrome.

This form of Ectodermal Dysplasia is very rare, with probably fewer than 20 cases described in the medical literature. Females and males are equally affected.

AEC syndrome is inherited as an autosomal dominant trait. The gene defect has been mapped to 3q27, which encodes for tumor protein p63.

Usually made with the typical clinical features and family history.

The face of these mentally normal patients usually is oval shaped with a broad nasal bridge. Partial or complete fusion of the eyelids because of tissue bands (ankyloblepharon filiforme adnatum) and absent lacrimal puncta may be present at birth. Eyelashes may be sparse or absent. Photophobia and recurrent blepharoconjunctivitis are common. Auditory canals may be atretic or stenotic, resulting in conductive hearing loss. Ectodermal Dysplasia usually presents with sparse, coarse, wiry scalp hair, which may progress to partial or even total alopecia, often secondary to recurrent scalp infections. The skin appears dry and cracking and often is hyperpigmented. Palmoplantar keratoderma is common in adults. Dystrophic or missing nails, mild hypohidrosis, and dental anomalies such as hypodontia, enamel defects, and abnormally shaped teeth are common findings. Cleft lip/palate with or without maxillary hypoplasia, cupped ears, syndactyly, hypospadias and/or micropenis, and short stature have been reported in some patients. Cardiac defects include ventricular septal defects and patent ductus arteriosus.

Although no specific reports for this disease exist, because of mild depression of the immune system and hypoplasia/absence of the respiratory mucus glands, other forms of ectodermal dysplasia often are associated with a predisposition to respiratory tract infections, which can be life-threatening. To our knowledge, no such reports exist for AEC syndrome; nevertheless this potential should be kept in mind when assessing the patient.

Hypohidrosis usually is mild and likely will not result in increased body temperature during anesthesia, but body temperature should be measured. Tracheal intubation may be difficult secondary to cleft lip/palate and maxillary hypoplasia. Hypoplasia or even absence of mucous glands in the respiratory tract has been reported in some cases of ectodermal dysplasia; therefore, humidified air should be used during general anesthesia.

No adverse drug reactions specific for this disease have been reported.

ADULT Syndrome: The main manifestations are hypodontia, very brittle and/or early loss of permanent teeth, and ectrodactyly (split hands and feet). General health of patients with ADULT syndrome does not seem to be impaired.

Christ-Siemens-Touraine Syndrome: Genetic disorder characterized by the association of hypohidrosis, hypotrichosis, and defective dentition with peculiar facies. Consequences are related to thermoregulation and exocrine gland insufficiency.

Clouston Syndrome (Ectodermal Dysplasia): Autosomal dominant ectodermal dysplasia characterized by the triad of palmoplantar hyperkeratosis, nail dystrophy, and alopecia. Facial appearance, teeth, and sweating are normal.

Ectrodactyly, Ectodermal Dysplasia, and Clefting (EEC) Syndrome: Rare form of ectodermal dysplasia inherited as an autosomal dominant trait associating missing/irregular fingers and/or toes, abnormalities of the hair and glands, cleft lip/palate, unusual facial features, and abnormalities of the eyes and urinary tract, which can vary from mild to severe.

Hallerman-Streiff Syndrome: Genetic syndrome characterized by distinctive craniofacial malformations, including brachycephaly, bird-like facies with “parrot-beaked” nose, hypoplastic mandible, hypotrichosis, ocular abnormalities (congenital cataracts, microphthalmia), dental defects, skin atrophy (scalp, nasal area), and dwarfism.

Johanson-Blizzard Syndrome (JBS): Polymalformative syndrome characterized by nasal alar hypoplasia (beak shaped), scalp defects, hypothyroidism, pancreatic achylia, and congenital deafness.

Jorgenson Lenz Syndrome: Mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, prognathism, restricted joint mobility, radioulnar synostosis. The name of this syndrome is based on a single paper.

Rapp-Hodgkin Hypohidrotic Ectodermal Dysplasia: Autosomal dominant inherited anhidrotic ectodermal dysplasia with cleft lip/palate, hypodontia, nail and hair anomalies, and alopecia in adulthood. The mouth of some of these patients has been described as small. Assessment prior to anesthesia is recommended. Some researchers consider this disorder a variant of AEC syndrome.