Extremely rare form of ectodermal dysplasia with eye, hair, skin, and teeth anomalies.
Unknown. Two cases from one family have been described.
Autosomal recessive transmission has been suggested because the parents were first cousins and 11 other siblings were unaffected.
Based entirely on the clinical findings and family history. Scanning electron microscopy of the hair anomalies (structural changes in the orifices, peeling, scaling, dystrophic bulbs, and clubbing of free ends) can be helpful.
This disorder has been classified as a pure ectodermal dysplasia of the tricho-odonto-onychial subgroup. The clinical features consist of short stature, anomalies of the eyes (retinopathy pigmentosa [which resulted in severely decreased vision in one patient], sparse eyelashes and lateral eyebrows), the teeth (cavities, widely spaced, small, and pointy deciduous teeth), the nails (fragile and brittle, onychodysplasia), the hair (trichodysplasia, sparse scalp, axillary and pubic hair, generalized hypotrichosis), and the skin (dry, scaling).
Precautions before anesthesia
Routine preoperative assessment is considered adequate.
Anesthesia in this condition has not been described. According to the described symptoms, no specific anesthetic considerations are expected. However, dental fragility predisposes to injury during airway manipulations and should be kept in mind.
Other condition to be considered
N: Oculotrichodysplasia (OTD): A new probably autosomal recessive condition. J Med Genet