Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (MIM number: 106260), also called AEC syndrome and Hay-Wells syndrome [1], is one of the rarest ectodermal dysplasia forms. It is a rare autosomal dominant disorder with an unknown prevalence [2]. The manifestations of AEC syndrome are present at birth. The majority of researchers consider that the phenotype associating ankyloblepharon filiform adnatum (congenital adhérences of the eyelids), cleft lip and/or palate and ectodermal dysplasia is the key criterion for the diagnosis of AEC syndrome [2, 3, 4]. Ectodermal defects usually consist of sparse wiry hair, skin erosions, onychodystrophy, dental changes and decrease in transpiration capacity.
Subsequent studies showed that this disorder most often results from mutations in the
A newborn with ankyloblepharon.
Physical examination findings were characteristic and included dysmorphic features such as hypertelorism, pointed nose, prominent and low set ears in addition to a median cleft palate. The ankyloblepharon was operated at age of 3 months. Dermatological evaluation showed dry skin, sparse and frizzy hair with small areas of alopecia, sparse eye-brows and absent eyelashes. Patient had also oligodontia and dystrophic teeth and nail (Figure 2). The parents report that the patient has decreased sweating and heat intolerance. They report also that she has slow growth of the hair, multiple scalp infections treated and constantly watering eyes. Ophthalmological examination revealed obstruction of the lacrymal ducts and normal visual acuity. The patient also has a vaginal atresia discovered during a systematic medical examination. There were no malformations in the hands or feet. The psychomotor development, her weight and height were normal for her age. Cardiac, abdominal and pelvic ultrasonography did not find any malformations.
Phenotypic features of patient with AEC syndrome:
(a) : sparse and frizzy hair with small areas of alopecia;
(b) : oligodontia and dystrophic teeth (c); (d): dystrophic nails.
The parents are healthy, without a positive history for congenital and genetic diseases. There were no similar cases in the family.
The sequencing of
Sequence analysis of the
Hay-Wells or AEC syndrome is an autosomal dominant genetic disease characterized the presence of ankyloblepharon, ectodermal abnormalities (including sparse and frizzy hair, skin defects, nail alterations, dental changes, and hypohidrosis) associated with a clefting of the lip and/ or the palate. The majority of authors consider these as the cardinal features suggestive of this syndrome [2, 3, 4, 5, 6, 7, 8, 9, 10]. It has been reported that AEC syndrome includes erythroderma at birth with desquamation, superficial erosion and crusting [2]. These clinical manifestations were found in the case reported here. Erosive dermatitis and recurrent scalp infection at birth and during infancy, as present in our case, are major signs that orient differential diagnosis with similar genetic disorders. [11,12]. Eyelids fusion can be partial or complete, this pathognomonic phenomenon is known as ankyloblepharon filiforme adnatum. Lacrymal duct obstruction is a common feature of this syndrome and other eye findings can be observed. Other rare clinical findings include ear canal atresia, supernumerary nipples, heart defects, and genitalia anomalies [11], Our patient has vaginal atresia, this exceptional finding has been reported in clinical databases as a very rare symptom in this syndrome [2].
The differential diagnoses include ichthyosis and epidermolysis bullosa, but AEC syndrome is distinguished by the type of skin lesions and the associated clefting and eye findings [11]. We have also eliminated other syndromes, especially acro-dermo-ungual-lacrimal-tooth syndrome (ADULT syndrome), ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (EEC), split hand/foot malformation (SHFM) and limb-mammary syndrome (LM Syndrome). Although these syndromes present overlapping phenotypes, distinct clinical features may be useful to differentiate them [2,13].
AEC syndrome is due to mutations in
The genetic testing result of the