EEC SYNDROME. CASE REPORT

Aim. Case report. EEC syndrome is a genetic developmental disorder characterized by ectrodactyly,
ectodermal dysplasia, and orofacial clefts (cleft lip/palate). The three cardinal signs of the syndrome are
ectrodactyly and syndactyly of the hands and feet, cleft lip with or without cleft palate, and
abnormalities in several ectodermal structures including skin (i.e. hypopigmentated and dry skin,
hyperkeratosis, skin atrophy), hair (i.e. fine and sparse hair and eyebrows), teeth (small, absent or
dysplastic teeth), nails (nail dystrophy) and exocrine glands (reduction/absence of sweat, sebaceous
and salivary glands). Other associated clinical features include abnormalities of the genitourinary system,
conductive or sensorineural hearing loss, choanal atresia, mammary gland/nipple hypoplasia,
ophthalmological findings (i.e. lacrimal duct defects, corneal ulcerations, keratitis, blepharitis). Patients
do not have intellectual deficit.
Materials and methods. The exact prevalence is not known. More than 300 cases have been described in
the literature. In more than 90% of cases, EEC is due to missense mutations in the sequence of the TP63
gene (3q27) encoding the TP63 transcription factor that is essential for ectoderm and limb development.
These cases correspond to the classical EEC syndrome (EEC type 3) and seem to present some degree of
genotype-phenotype correlation. The other cases correspond to EEC syndrome type 1, which shows
associated clinical features such as malformedauricles and middle and inner ear malformations, and was
mapped to 7q21. EEC type 2 does not exist anymore. EEC syndrome is an autosomal dominant disorder
with incomplete penetrance (between 93 and 98%) and variable expression. The diagnosis is based on
clinical examination, X-rays of the limbs and jaw, and, according to the associated features, kidney
ultrasound, ophthalmologic examinations, and skin biopsy.
Results and conclusions. Management is multidisciplinary and requires evaluation by orthopedic, plastic
and dental surgeons, ophthalmologists, dermatologists, and speech therapists. Surgery allows correction
of orofacial and dental abnormalities.