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

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Oculotrichodysplasia.

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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.

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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, scaling).

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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.

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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 25:430, 1988.  [PubMed: 3398012]

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