Ankyloblepharon filiforme adnatum: report of two cases.

Ankyloblepharon filiforme adnatum (AFA) is a rare congenital anomaly characterized by partial or complete adhesion of upper and lower eyelids, usually seen as an isolated finding but often associated with other anomalies or a well-defined syndrome. We report two cases of AFA who presented at a tertiary eye care center of West Bengal. Family history of consanguinity was absent. One baby had abnormal tuft of hair over the small of the back. No other congenital abnormalities were detected in any of them. The adhesions of the eyelids were divided by a number 15 blade after crushing with mosquito forceps in both cases without any anesthesia. Subsequent ocular examinations following separation and during follow-up revealed normal eyelid function, ocular motility, and fundus. In a case of AFA, timely separation of the eyelids is crucial to avoid the development of occlusion amblyopia. Cases of AFA reported in the literature are reviewed.

INTRODUCTION

Ankyloblepharon filiforme adnatum (AFA) is characterized by partial or complete adhesion of the ciliary edges of the upper and lower eyelids at the gray line, by single or multiple fine bands of extensible tissue, which reduces the palpebral fissure by interfering with the movement of the lids. It should be differentiated from ankyloblepharon by the fact that in the latter, lid margins are directly fused together.1 It is amblyogenic and its association with other congenital abnormalities may account for high mortality and morbidity. Here, we present two newborns with AFA who were treated successfully by separation of the eyelids. Case reports are rare in the literature with or without other associated congenital abnormalities.23456789

CASE REPORTS

Case 1

A 4-day-old male infant was admitted to the ophthalmic department of Calcutta National medical college and hospital on July 15, 2006. He was unable to open his eyes at birth due to adherent upper and lower eyelids [Figure 1a]. The baby weighing 2.7 kg was born at 40 weeks gestation by spontaneous vaginal delivery with episiotomy to a 28-year-old second gravida. The antenatal, intranatal, and postnatal periods were uneventful. The mother denied taking any drugs except iron and vitamin supplements. There was no history of any X-ray exposure. The previous sibling, a 2-year-old female, was healthy. There was no family history of congenital anomalies or consanguinity.

Figure 1

(a) Several extensible bands of tissue connecting the eyelid margins of the right and left eye in case 1 (b) Separated eyelids following surgical procedure in case 1

On examination the baby was noted to have bilateral partially fused eyelids. Apart from this, he was perfectly healthy without any other congenital abnormalities identified after a thorough pediatric assessment. A more detailed ophthalmic examination revealed two fine extensile bands of skin measuring about 1 mm in breadth and 3 mm in length between the upper and lower eyelid in the left eye. Similar bands, one centrally and one near the lateral canthus were detected in the right eye. In both the eyes, the adhesions were divided by a number 15 blade after being crushed with mosquito forceps. There was minimal bleeding [Figure 1b]. No sedation or local anesthetic was required. Posterior surface of eyelids, ocular motility, anterior segment, and fundus were normal.

Case 2

A 2-day-old male infant was admitted to the eye ward of our hospital on April 2, 2011 with similar signs as in case 1 [Figure 2a and b]. Family history and antenatal history was unremarkable. On examination, fine extensible bands similar to as in case 1 were found in both eyes. Systemic examination did not reveal any abnormalities except a tuft of hair over the lumbosacral area proximal to the cleavage [Figure 2c]. The patient was managed as in case 1.

Figure 2

(a) Ankyloblepharon filiforme adnatum in case 2 (b) Extensible band of tissue connecting the eyelid margins in left eye in case 2 (c) Tuft of hair over the small of the back in case 2

Both infants presented for follow up at one month and no abnormality was detected.

DISCUSSION

First described by Von Hasner in 1881, AFA is a rare benign congenital anomaly, usually associated with multiple and complex malformations, suggestive of an autosomal dominant inheritance of varying degrees of penetrance. Sporadic cases have, however, also been described.4 No sex affinity has been discussed to date.2

The fusion of eyelids is a normal stage in human development. The developing eyelid margins remain fused until the fifth gestational month but may take up to the seventh month of gestation to be completely separated.5 Fusion seen at birth as in AFA is abnormal.

The length of the bands varies from 1 to 10 mm and breadth varies from 0.3 to 0.5 mm and are invariably extensible. The bands always lie between the cilia and orifices of the tarsal gland. The band is always composed of a central vascular connective tissue strand surrounded by pavement epithelium. The connective tissue is usually highly cellular and embryogenic in nature, but Cordero found muscle fibers and numerous sub-epithelial glands in the histological study of the band. When the bands are cut, bleeding may occur.1

Pathogenesis of the condition is disputed. Various theories include a simple defect in separation, pathologic growth of the skin of inflammatory origin, an epithelial defect in fetal life through which connective tissue grows, most likely due to trauma, for example, fingernail trauma in utero. But the most accepted theory is that of pure aberrance of development, due either to a temporary arrest of the growth of epithelium or more probably, an abnormally rapid proliferation of mesoderm allowing union at certain points of the mesenchyme of the lid folds without epithelial interposition.1

It is usually a solitary malformation of sporadic occurrence, but can occur in an autosomal dominant pattern associated with cleft lip and palate in most familial cases. In some patients, it appears as a part of Edwards’ syndrome (Trisomy 18), Hay-Wells syndrome (a variant of ectodactyly-ectodermal dysplasia-cleft lip-palate syndrome), popliteal pterygium syndrome (characterized by intercrural webbing of the lower limbs), and curly hair-ankyloblepharon-nail dysplasia (CHANDS). It may also be reported in association with hydrocephalus, meningocele, imperforate anus, bilateral syndactyly, infantile glaucoma, and cardiac problems such as persistent ductus arteriosus and ventricular septal defect.6 An unusual report of a multiple malformation syndrome with AFA, with cleft lip and palate, bilateral popliteal pterygia, bilateral complete syndactyly of 2nd and 3rd toes and hypoplastic nails, accessory nipple, and partially descended testis has also been reported.4

In both the cases we could not find any causative factor for the defect as the perinatal and family histories were unremarkable. In case 2, the tuft of hairs over the lumbosacral area may be explained by ectodermal dysplasia reported in literature.6

This report demonstrates the simplicity in treating the condition and the importance of early intervention to avoid the development of amblyopia.

Moreover, considering the pattern of inheritance, genetic counseling of the parents of the affected offspring may be suggested. However, the major practical importance of this anomaly is, perhaps, to alert the physician as to the presence of other associated congenital anomalies.