EEC syndrome

Abstract

Dear Editor, We are reporting a case consisting of ectrodactyly, ectodermal dysplasia and clefting of lip and palate (EEC syndrome) with a very rare constellation of ocular features. The term EEC syndrome was coined by Rudiger et al.1 in 1970. It is a complex pleiotropic multiple congenital anomaly/dysplasia syndrome in which any one of the stigmata or cardinal signs are present in variable expression. A ten-year-old male child was referred to us from the cleft lip and palate clinic with bilateral cleft lip and palate. There was history of nonconsanguineous marriage with full term normal delivery conducted at home. There were no similar complaints in the family. The child has four siblings and none of them have abnormalities. On examination the child had cleft lip and palate with midline clefting [Fig. 1], speech was hypernasal with mild conductive hearing loss.2 Enamel hypoplasia with partial anodontia was also present.Figure 1: Bilateral cleft lip and palate with midline cleftingOphthalmological findings were confined to the adnexae and anterior segment. The features were hypertelorism [Fig. 2], entropion, punctal scarring, hypotrichiasis, absent meibomian glands [Fig. 3] and blepharitis. Child had photophobia, showing papillary conjunctivitis, conjunctival pigmentation and dryness. Nasolacrimal duct was blocked with chronic dacryocystitis. Tear formation and tear break up time was decreased. Rest of the anterior segment was normal with good visual acuity.Figure 2: Hypertelorism with cleft lip with midline cleftingFigure 3: Absence of meibomian orifice with blepharitisSkeletal anomalies were, ectrodactyly of both hands,3 syndactyly in fourth, fifth fingers and toes (ectrosyndactyly). A typical lobster claw hand4 deformity [Fig. 4] was also present. Skin was dry, scaly and hypopigmented. Body hair, eyebrows and lashes were sparse and poorly developed. Patient was of normal intelligence. X-ray of hands and teeth confirmed ectrodactyly and syndactyly.Figure 4: Distal limb abnormalities – EctrodactylyManagement of these cases is difficult from both the practical and psychological standpoint and is by multidisciplinary approach; the team comprises plastic and dental surgeons, ophthalmologist, dermatologist and a speech therapist. The child was advised artificial tears for dry eye and emollients for the dry skin. Cleft lip and palate was repaired by a plastic surgeon. Speech and audiology therapy was advised. Cleft hands and syndactyly repair was also suggested. The EEC syndrome results from a developmental abnormality that simultaneously affects the ectodermal and mesodermal tissues; although each defect that comprises the syndrome has been known to occur as a separate entity, the constellation of all three anomalies appears to be a rare occurrence.12 The inheritance of this condition is autosomal dominant, although sporadic and autosomal recessive traits have been reported,5 but it is not yet clear whether the incomplete forms reflect a reduced expression of the gene or one or more separate clinical entities. It is very likely that the EEC syndrome is another example of genetic heterogeneity and the determination of its genetic mechanism or mechanisms will require that clinical variability be carefully documented and defined.4 Early diagnosis helps in counseling and reassurance.5 Acknowledgment Dr. Rajesh Powar M.S, Mch, Department of Plastic Surgery, K.L.E.S's Hospital and M.R.C, Belgaum.