Two interesting cases of EEC syndrome

Area of Science:

• Genetics
• Dermatology
• Oral Medicine

Background:

• EEC syndrome is a rare congenital disorder characterized by ectodermal dysplasia, limb anomalies, cleft lip/palate, and lacrimal duct issues.
• Variable expressivity and penetrance are typical, with ectrodactyly sometimes absent in oligosymptomatic forms.
• It is typically inherited as an autosomal dominant trait.

Purpose of the Study:

• To present two cases of EEC syndrome with significant oral involvement.
• To emphasize the potential role of dental surgeons in the early diagnosis of EEC syndrome.

Main Methods:

• Case report presentation of two patients diagnosed with EEC syndrome.
• Clinical examination focusing on oral manifestations and characteristic features of EEC syndrome.

Main Results:

• Both reported cases exhibited the three cardinal features of EEC syndrome.
• Oral involvement was a prominent feature in both cases, suggesting its diagnostic importance.

Conclusions:

• Dental surgeons are well-positioned for early recognition of EEC syndrome due to oral manifestations.
• Differential diagnosis should include Rapp-Hodgkin and AEC syndromes for incomplete EEC presentations.
• An interdisciplinary approach is vital for optimal management of EEC syndrome.