Abnormality of the Hair in Cartilage-Hair Hypoplasia

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Abstract
The scalp hair in a patient with cartilage-hair hypoplasia was studied by light-microscopy, amino-acid analysis and tensile testing. Measurement of the hair shaft diameter, using an ocular micrometer, confirmed McKusick’s observation that the hairs were thinner than those seen in normal individuals. They were also weaker than normal hair, even when the smaller cross-sectional area was taken into account. However, no differences could be detected on amino-acid analysis between the patient’s and control hair. It was suggested that the findings were consistent with shorter keratin chain length in the patient’s hair.

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