An ectodermal dysplasia associated with ankyloblepharon. CHANDS is an acronym that stands for Curly Hair, Ankyloblepharon, and Nail Dysplasia Syndrome.
Approximately 10 cases have been described.
Autosomal recessive mode of inheritance with pseudodominance has been suggested. Newer research indicates that CHANDS is caused by mutations in the RIPK4 (Receptor-Interacting Serine-Threonine Kinase 4) gene located on chromosome 21q22.3. RIPK4 is a member of the receptor-interacting protein kinase family and—among other functions—regulates the proliferation and differentiation of epidermal keratinocytes. Consanguinity seems to be a risk factor.
The main clinical signs are incorporated in the acronym: curly hair, ankyloblepharon (fusion of the eyelids), and nail dysplasia (hypoplastic, hyperconvex, and/or grooved). Other features may include ataxia with abnormal gait, speech defects, oral frenula, lip pits, hypermetropia, and strabismus. One patient also had fibrous adhesions between maxilla and mandible at the level of the premolars, and additionally from the buccal mucosa to the alveolar ridges, which basically resulted in the inability to open the mouth.
Precautions before anesthesia
Obviously, the preanesthesia evaluation needs to focus on airway assessment.
In the presence of interalveolar fusion and inability to open the mouth (in the case reported by Ohishi et al, interalveolar distance was 4 mm at birth), airway management will be very difficult. In this report, surgery was postponed until 1 year of age because feeding (surprisingly) was not an issue. At the time of surgery, mouth opening was 6 mm preoperatively and 12 mm after cutting of the fibrous bands. Endotracheal intubation was performed, but the technique used not described. Maintenance of spontaneous ventilation is recommended until the airway has been secured. Alternative airway management options should be immediately available (eg, supraglottic airway device [which would not have been an option in the aforementioned case], fiberoptic bronchoscope) and adherence to an established difficult airway algorithm is advised. A surgeon familiar with surgical airway management and the necessary equipment should easily be available in the operating room. The safest approach in a case with basically no mouth opening is an awake fiberoptic nasal intubation or, if this option is not available, a retrograde intubation or a tracheotomy performed under local anesthesia would be the technique of choice. As further illustrated by this case, the separation of mandible and maxilla does not immediately improve the situation from an anesthetic point of view because the ankylosis of the temporomandibular joints will still be present postoperatively. Other anesthetic implications are limited to eye protection (in Ohishi’s report, the eyelids were separated immediately after birth by an ophthalmologist, and apparently no anesthesia was provided at that time).