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At a glance

Extremely rare form of ectodermal dysplasia with eye, hair, skin, and teeth anomalies.

Synonym

Oculotrichodysplasia.

Incidence

Unknown. Two cases from one family have been described.

Genetic inheritance

Autosomal recessive transmission has been suggested because the parents were first cousins and 11 other siblings were unaffected.

Diagnosis

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.

Clinical aspects

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.

Anesthetic considerations

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

  • Please refer to ☞Ectodermal Dysplasia for other forms: Ectodermal Dysplasia represent a rare groups of inherited disorders that 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.

Reference

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Cecatto-De-Lima  L, Pinheiro  M, Freire–Maia  N: Oculotrichodysplasia (OTD): A new probably autosomal recessive condition. J Med Genet 25:430–432, 1988.  [PubMed: 3398012]

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