A newborn with overlapping features of AEC and EEC syndromes

Area of Science:

• Genetics and Developmental Biology
• Clinical Medicine
• Syndromology

Background:

• Ectrodactyly, ectodermal dysplasia, clefting (EEC) syndrome is a prototype for p63-related disorders.
• These conditions, including AEC, LMS, RHS, and ADULT syndromes, involve variable combinations of ectodermal dysplasia, orofacial clefting, and limb malformations.

Observation:

• A newborn presented with diffuse erythematous, desquamating skin lesions and anal atresia.
• The patient exhibited sparse hair, deep-set eyes, hypoplastic alae nasi, short philtrum, complete cutaneous syndactyly of the 3rd/4th fingers, mild ectrodactyly of the 1st/2nd digits, and post-axial polydactyly of the feet.
• Ankyloblepharon and cleft lip/palate were notably absent.

Findings:

• The clinical presentation suggested an overlap between AEC and EEC syndromes, with skin findings pointing towards AEC and limb malformations towards EEC.
• Genetic analysis revealed a C308Y mutation in exon 8 of the TP63 gene.
• This specific mutation was previously associated only with EEC syndrome, not other allelic conditions.

Implications:

• The case highlights the significant clinical variability associated with specific TP63 gene mutations.
• It underscores the importance of comprehensive genetic analysis in diagnosing complex overlapping syndromes.
• Understanding this variability is crucial for accurate diagnosis, genetic counseling, and management of p63-related disorders.