Extremely rare form of ectodermal dysplasia with eye,
hair, skin, and teeth anomalies.
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.
Diagnosis is made clinically and by scanning
electron microscopy of the hair, which shows structural anomalies. Patients
present with short stature. Other clinical features involve the eyes
(retinopathy pigmentosa, sparse eyelashes and [lateral] eyebrows), the teeth
(caries, widely spaced, small, pointy deciduous teeth), the nails (fragile
and brittle, onychodysplasia), the hair (trichodysplasia, sparse scalp,
axillary and pubic hair, generalized hypotrichosis), and the skin (dry,
Anesthesia in this condition has not
been described. According to the symptoms, no specific anesthetic
precautions are necessary. However, dental fragility predisposes to injury
during airway manipulations and should be kept in mind.
Other forms of Ectodermal Dysplasia: A rare group of
inherited disorders which arises from disturbances in one or
more ectodermal structures and their accessory appendages. The
absence or deficient function of at least two derivatives of
the ectoderm constitutes a form of ectodermal dysplasia. Each
combination of defects represents another type of ectodermal
dysplasia and has a specific name. At least 150 different forms
of ectodermal dysplasia have been identified.
Cecatto-De-Lima L, Pinheiro M, Freire-Maia N: Oculotrichodysplasia (OTD):
A new probably autosomal recessive condition. J Med Genet