Hay-Wells (AEC) syndrome
Edwin K Joe and Seth J Orlow
Dermatology Online Journal 7(2): 11

History

This 11-month-old boy presented with a dermatosis involving widespread areas of his body present since birth. The areas of involvement included face, inincluding eyelids, eyelashes, and eyebrows; palate; scalp; ears; fingernails; toenails; and penis. The patient was born at term via normal vaginal delivery after an uncomplicated prenatal course. At birth, adhesions were noted between his upper and lower eyelids; these were lysed by an ophthalmologist. Erosions and oozing on his scalp and nail abnormalities also were noted. Hypospadias was surgically repaired by a urologist. He also was being followed by an ophthalmologist for underdeveloped tear ducts, and by a craniofacial expert for a submucous cleft palate. His primary teeth have not yet erupted. Reduced sweating or hyperthermia has not been noted. Family history included an unaffected older brother and an older sister. Prior treatment included bacitracin ointment and mupirocin 2% ointment for his scalp and mupirocin 2% ointment for his nails. Recently, sparse hair growth has been noted on his scalp, eyelashes, and eyebrows.

Physical Examination

Centrofacial hypoplasia was noted with patulous lips. The rims of the eyelids were slightly thickened, with only a few tiny eyelashes. Eyebrows were absent except for some fine vellus hairs. The ears were slightly malformed. Some brown hairs, especially on the vertex and frontal hairline, were present on the scalp. Erosions and erythematous patches were noted more occipitally and pustules and crusts more anteriorly. There was marked thickening of the nail plates of both the fingernails and toenails with yellow, brown-black discoloration but no digital or toe abnormalities. Mild hypospadias was noted. There were no intraoral lesions or lymphadenopathy.

Figure 1	Figure 2

Laboratory Data

Staphylococcus aureus and Pantoea (Enterobacter) agglomerans were cultured from a scalp pustule. Mutational analysis of p63 gene showed the most common mutation.

Histopathology

There was parakeratosis admixed with fibrinopurulent debris. A periodic acid-Schiff stain failed to reveal fungi.

Diagnosis

Hay-Wells (AEC) syndrome

Comment

Hay-Wells syndrome, or AEC syndrome-ankyloblepharon, ectodermal dysplasia , a cleft lip and/or palate-was first described by Hay and Wells in 1976. There are approximately 24 reported cases. The mode of inheritance is autosomal dominant with variable clinical expression. The basic defect is unknown.

Ankyloblepharon filiforme adnatum (strands of epithelial tissue between the eyelids) are pathognomonic but are present in only 70%. The ectodermal dysplasia may involve the skin, hair, nails, and teeth. Severe, recurrent scalp erosions and infections occur in more than two-thirds of cases. Those hairs that are present are wiry, coarse, and sparse. Although cleft lip is a variable feature, cleft palate is reported in most. More than one-half exhibit lacrimal duct atresia or obstruction. Other possible findings include anonychia and hypoplastic and dystrophic nails; a broadened nasal bridge and maxillary hypoplasia; small, low-set ears with auricular deformities; abnormally shaped ear canals; hypodontia or small, discolored teeth; reduced number of sweat pores and heat intolerance; supernumerary nipples; cutaneous syndactyly of the second and third toes; and hypospadias. Complications include chronic otitis media, hearing loss, excessive lacrimation, and chronic conjunctivitis. In affected families, prenatal diagnosis is suggested if cleft lip and/or palate is detected by fetal ultrasound.

Hay-Wells syndrome may be difficult to distinguish from Rapp-Hodgkin syndrome-autosomal dominant, ectodermal dysplasia, cleft lip and/or palate, and mid-facial hypoplasia-especially if ankyloblepharon are absent. Scalp erosions and infections are more common and more severe in the former. CHAND syndrome-autosomal recessive, ectodermal dysplasia with curly hair, ankyloblepharon, and hypoplastic nails-may be distinguished by absence of cleft lip and/or palate and other typical craniofacial features. Furthermore, hair is curly or woolly in CHAND syndrome and wiry and coarse in Hay-Wells syndrome. However, there are numerous cases of clinical overlap between these and other syndromes, which suggests that they may be various manifestations of a single entity. Determination of the molecular defect(s) involved will help clarify whether these are distinct disorders.

Management often involves multidisciplinary care. Reported therapies for the scalp dermatitis include keratolytic shampoos and topical glucocorticoids and for scalp erosions and infections include topical and systemic antibiotics, aggressive wound care, and manual debridement. Ankyloblepharon may lyse spontaneously or may require surgical correction. Lacrimal duct atresia, cleft lip and/or palate, maxillary hypoplasia, and hypospadias also may be surgically repaired. Frequent dental examinations and restorative procedures are often necessary. The National Foundation for Ectodermal Dysplasia (www.nfed.org) provides information, support networks, scholarships, patient advocacy, and funding for research programs.

References

© 2001 Dermatology Online Journal