Abstract
• Background: The ectrodactyly —ectodermal dysplasia —clefting (EEC) syndrome is a rare disease which follows an autosomal-dominant pattern of inheritance. Due to the ectodermal dysplasia there is atresia of the lacrimal duct system and aplasia of the meibomian glands with a defective tear film. Therefore, vascularized corneal scars often form during early adult life. • Patients: Father aged 41 years, and son aged 23 months.Both patients: stenosis/atresia of lacrimal duct systems (the father had twice undergone dacryocystorhinostomy externally) with epiphora, lip-palate clefting, syndactylies of fingers and toes, lobster deformities of hands.Additional ophthalmological findings in the father: bilaterally extracted juvenile cataracts with implantation of intraocular lenses, bilateral extensive vascularized corneal scars.Additional dermatological findings in the father: malignant melanoma of the calf, now in complete remission following several operations on the melanoma and several cycles of chemotherapy for the metastases. • Discussion and therapeutic conclusions: Father and son show the full clinical picture of the EEC syndrome with clefting, lobster-like deformities of the hands and ectodermal dysplasia with tear duct atresia and aplasia of the meibomian glands with defective tear film. During childhood, the main handicapping features are the clefting and the hand deformities with their respective multiple operative revisions. During early adulthood, however, the ocular problems become the predominantly handicapping aspects of the EEC syndrome; due to the ectodermal dysplasia, vascularized corneal scarring develops. Tearing and secondary inflammation due to lacrimal duct atresia has to be treated by early dacryocystorhinostomy. As secondary infections promote the development of corneal scars, one should not postpone the operation too long. Infections have to be treated promptly by local antibiotics. Because of the aplasia of the meibomian glands, artificial tear substitution should be given on a regular basis to support the defective tear film. Thus, the development of vascularized corneal scars can perhaps be delayed. Once corneal scarring has developed, perforating keratoplasty has a poor prognosis due to the ectodermal dysplasia, the absence of the meibomian glands and the defective tear film. Three factors lead to the formation of vascularized corneal scars: recurrent infections of lid margins and conjunctiva due to obstructed tear ducts; defective tear film with insufficient lipid phase due to the aplasia of the meibomian glands; and primary corneal epithelial defects in the course of the generalized ectodermal dysplasia.
Similar content being viewed by others
References
Aldenhoff P, von Mühlendahl KE, Waldenmaier C (1978) Das EEC-Syndrom. Fallbericht und Überlegungen zur Pathogenese. Monatsschr Kinderheilkd 126:575–578
Baum J, Bull M (1974) Oocular manifestation of the ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome. Am J Ophthalmol 78:211–214
Bronsheim M, Gershoni-Baruch R (1993) Prenatal transvaginal diagnosis of the ectrodactyly-ectodermal dysplasia-cleft palate (EEC) syndrome. Prenat Diagn 13:519–522
Buss PW, Hughes HE, Clarke A (1995) Twenty-four cases of the EEC syndrome: clinical presentation and management. J Med Genet 32:716–723
Fosko SW, Stenn KS, Bolognia JL (1992) Ectodermal dysplasia associate with clefting: significance of scalp dermatitis. J Am Acad Dermatol 27:249–256
Fukushima Y, Ohashi H, Hasegawa T (1993) The breakpoints of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) confirmed to 7q11.21 and 9p12 by fluorescence in situ hybridization. (letter) Clin Genet 44:50
Kaiser-Kupfer M (1973) Ectrodactyly, ectodermal dysplasia and clefting syndrome. Am J Ophthalmol 76:992
Koniszewski G, Maywald M, Henke V (1987) Augenbeteiligung bei ektodermaler Dysplasie. Klin Monatsbl Augenheilkd 190:519–523
Mawhorter LG, Ruttum MS, Koenig SB (1985) Keratopathy with the ectrodactyly-ectodermal dysplasia — clefting syndrome. Ophthalmology 92:1427–1431
McNaab AA, Potts MJ, Welham RA (1989) The EEC syndrome and its ocular manifestations. Br J Opthalmol 73:261–264
Mondino BJ, Bath PE, Foos RY, Apt L, Rajacich GM (1984) Absent meibomian glands in the ectrodactyly, ectodermal dysplasia, cleft lip palate syndrome. Am J Ophthalmol 97:496–500
Obel N, Hansen B, Black FT (1993) Normal immunological status in four patients with ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC syndrome). Clin Genet 43:146–149
Roelfsema BR, Cobben JM (1996) The EEC syndrome: a literature study. Clin Dysmorphol 5:1125–1127
Rosselli D, Gulienetti R (1961) Ectodermal dysplasia. Br J Plast Surg 14:1190–2204
Rüdiger RA, Haase W, Passarge E (1970) Association of ectodactyly, ectodermal dysplasia and cleft lip/palate. Am J Dis Child 120:160–163
Wilson F, Grayson M, Pieroni D (1973) Corneal changes in ectodermal dysplasia. Am J Ophthalmol 75:17–20
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Käsmann, B., Ruprecht, K.W. Ocular manifestations in a father and son with EEC syndrome. Graefe's Arch Clin Exp Ophthalmol 235, 512–516 (1997). https://doi.org/10.1007/BF00947009
Received:
Revised:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00947009