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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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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.
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AEC syndrome is inherited as an autosomal
dominant trait. The gene defect has been mapped to 3q27, which encodes for
tumor protein p63.
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Usually made with the typical clinical features and
family history.
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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.
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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.
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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 ...