A sporadic case of ectrodactyly, ectodermal dysplasia, cleft lip/palate (EEC) syndrome in a twin with unaffected parents and siblings
J Am Acad Dermatol
Introduction: Ectrodactyly, ectodermal dysplasia, cleft lip/palate (EEC) syndrome is a rare genetic disorder that presents with a triad of ectrodactyly and syndactyly of the hands and feet, cleft lip/palate and various ectodermal defects. The majority of cases are autosomal dominant and result from a missense mutation in the TP63 gene, which encodes a transcription factor for limb and ectoderm development. We present a sporadic case of a twin infant with clinical features of this rare syndrome, while sparing her twin.
Case presentation: A 14-month-old girl was presented for evaluation of multiple congenital anomalies. Her parents noted red, dry patches on her cheeks but had no other cutaneous concerns. A 20-week prenatal ultrasound had shown a twin gestation with hand/foot abnormalities of one fetus. At birth, the patient’s twin brother was healthy, although the patient required a neonatal intensive care unit stay for small gestational age, sleep apnea, and poor feeding due to cleft palate. She has since undergone cleft palate reconstruction and also follows with ophthalmology for a lacrimal duct abnormality and orthopedic surgery for planned reconstruction of skeletal anomalies. Physical examination revealed fine white hair and eczematous patches on her bilateral cheeks. All 4 limbs displayed marked syndactyly, split hand/foot malformations, and loss/fusion of existing nails.
Clinical course: Her eczema was managed with low potency topical corticosteroids and emollients. Her parents were counseled regarding appropriate skin care and the potential consequences of hypohidrosis and heat sensitivity, although uncommon in this disorder. Close follow-up with her multidisciplinary team was planned.
Discussion: Sporadic cases of EEC tend to be more severe as exemplified by our patient with high expressivity of clinical signs. Germline mutations may be suspected when seemingly normal parents have a child with the disorder. Awareness of the syndrome’s inheritance and potential manifestations and complications is important. An interdisciplinary approach with genetic counselors and multiple medical and surgical subspecialties is imperative to optimize outcomes.