EEC syndrome

The EEC syndrome is a genetic disease characterized mainly by ectodactyly, syndactyly, oro-facial clefts and various anomalies of ectodermal structures. Irregularities of the skin also occur: the skin is hypopigmented, and usually dry texture, hyperkeratosis and skin atrophy occur.

The hair and eyebrows grow fine and sparse. In addition, patients show small or dysplastic teeth, nail dystrophy and exocrine glands with reduced or absent secretions of sweat, saliva and sebum.

Other clinical symptoms include genitourinary system abnormalities, chonic atresia, sensorineural or conductive deafness, mastoid or mammary hypoplasia, ocular abnormalities, hypoplastic thymus, hypopituitarism and growth hormone deficiency. Delayed development, white sponge nevus and malignant lymphomas are rare.

The severity of the various symptoms varies considerably from patient to patient.

In almost all cases, the syndrome is triggered by missense mutations in the TP63 gene. This gene is responsible for the coding of the TP63 transcription factor, which controls the development of the ectoderm and limbs. About 10 percent of the cases are due to a mutation in the 7q21 locus and are due to malformation of the pinna and the inner ear. This disease status is described as EEC syndrome type 1.