Congenital Eyelid Anomalies
BLEPHAROPHIMOSIS
Blepharophimosis is a congenital eyelid syndrome that has a characteristic eyelid appearance and includes telecanthus, epicanthus inversus, and severe myogenic ptosis.
Epidemiology and Etiology
• Age: Congenital
• Gender: Equal
• Inheritance: Autosomal dominant
• Etiology: Unknown
History
• Often have family members with the same syndrome
Examination
• Characteristic eyelid findings include telecanthus, epicanthus inversus, and severe ptosis.
• Other findings, which may or may not be present, include lower eyelid ectropion, a poorly developed nasal bridge, hypoplasia of the superior orbital rims, hypertelorism, motility disorders, and various degrees of mental deficiency (Fig. 6-1).
Differential Diagnosis
• No other syndrome gives these characteristic changes. Must differentiate from simple epicanthus (see Fig. 6-2) and telecanthus.
Treatment
• Multiple stages of reconstruction are required.
• Initial surgery is aimed at the telecanthus and epicanthus inversus.
• This may require a simple Z-plasty, Y-V plasty, or transnasal wiring.
• The second stage is correction of the ptosis, which usually requires frontalis suspension.
• Finally, other eyelid abnormalities are addressed.
Prognosis
• Significant improvement can be made with surgery. Depending on the severity, there will always be some eyelid changes that remain.
 FIGURE 6-1. Blepharophimosis. This child has classic changes of blepharophimosis with ptosis, telecanthus, and epicanthus inversus. This must be differentiated from simple epicanthus (see Fig. 6-2). |
EPICANTHUS
Epicanthus is a medial canthal fold that is usually caused by immature midfacial bones. The condition is usually bilateral and will resolve as the child’s face matures. Epicanthus is associated with certain eyelid syndromes.
Epidemiology and Etiology
• Age: Congenital
• Gender: Equal
• Etiology: Immature midfacial bones are considered to be the cause.
History
• Noted at birth
Examination
• There is an extra fold of skin and subcutaneous tissue medially involving the eyelids. This may make the child appear esotropic. Four types of epicanthus have been described:
Epicanthus tarsalis: Fold is more prominent on the upper eyelid.
Epicanthus inversus: Fold is more prominent on the lower eyelid.
Epicanthus palpebralis: Fold is equally on the upper and lower eyelids (Fig. 6-2).
Epicanthus superciliaris: Fold runs from the eyebrow region to the lacrimal sac.
Special Consideration
• Epicanthus tarsalis can be a normal variant of the Asian eyelid. Epicanthus inversus is a part of blepharophimosis syndrome.
Differential Diagnosis
• Blepharophimosis
Treatment
• Most cases of epicanthus resolve with normal facial maturation, so any potential treatment should be delayed until the child is mature.
• The exception is epicanthus inversus, which rarely disappears with facial maturation.
• If surgical treatment is required, these cases respond well to a Y-V-plasty or Z-plasty.
Prognosis
• Excellent. Most cases resolve as the child grows.
• If surgery is required, the results are good.
 FIGURE 6-2. Epicanthal folds. These folds can often be seen as an isolated finding in young children. Unless severe, these epicanthal folds will lessen and even disappear as the child’s face matures. |
EPIBLEPHARON
Epiblepharon is an override of the pretarsal muscle and skin, which causes the cilia to assume a vertical position, although the eyelid margin is in a normal position. This disorder is usually asymptomatic with no corneal staining and requires no treatment.
Epidemiology and Etiology
• Age: Congenital
• Gender: Equal
• Etiology: Immature facial bones are felt to allow for this excess skin and muscle.
History
• There are usually no symptoms.
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