Ectodermal dysplasia associated with ankyloblepharon.
CHANDS is an acronym for curly hair, ankyloblepharon, and nail dysplasia, syndrome.
Fewer than 10 cases have been described. Autosomal
recessive mode of inheritance with pseudodominance has been suggested. Consanguinity seems to be a risk factor.
The main clinical signs are listed in the acronym:
curly hair, ankyloblepharon (fusion of the eyelids), and nail dysplasia
(hypoplastic, hyperconvex, grooved). Other signs may include abnormal gait,
ataxia, speech defect, hypermetropia, and strabismus. One case also had
fibrous adhesions between maxilla and mandibula at the level of the
premolars, but also from the buccal mucosa to the alveolar ridges, which
basically resulted in the inability to open the mouth.
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 is 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 had not been described.
Either awake fiberoptic nasal intubation or, if this option is not available,
tracheotomy under local anesthesia is the technique of choice. As
illustrated by this case, separation of the mandibula and maxilla does not
immediately improve the situation from an anesthetic point of view because
ankylosis of the temporomandibular joints is present. 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 anesthetic was given at that time).
Ectodermal Dysplasia: A group of inherited disorders characterized by disturbances
in one or more ectodermal structures and their accessory appendages. The absent or deficient function of
at least two derivatives of the ectoderm constitutes a form of ED.
More than 150 different forms of ED have been described.
Ohishi M, Kai S, Ozeki S, et al: Alveolar synechia, ankyloblepharon, and
ectodermal disorders: An autosomal recessive disorder? Am J Med Genet
Toriello HV: Alveolar synechia-ankyloblepharon-ectodermal defects likely
CHANDS. Am J Med Genet
Toriello HV, Lindstrom JA, Waterman DF, et al: Re-evaluation of CHANDS.
J Med Genet