Abnormal Elastic Tissue in Cartilage-Hair Hypoplasia

Abstract

A 29-year-old white woman had short limbs, hyperextendable joints, fine skin and body hair, anergy to common skin test antigens, subnormal lymphocyte response to phytohemagglutinin, and increased numbers of natural killer cells, characteristic of cartilage-hair hypoplasia, an autosomal, recessively inherited disorder found in America mainly among the old-order Amish. Her forearm skin was hyperextendable and numerous verrucae were present on the digits of her hands. A skin biopsy from hyperextendable skin showed ovoid, 10- to 20-micron bodies in the papillary dermis. Ultrastructurally, the bodies were interpreted as abnormal elastic fibers.

Cartilage hair hypoplasia: Characteristics and orthopaedic manifestations

“…The hair has been demonstrated to be diminished in caliber and lacks a pigmented core, a finding also observed by van der Burgt et al [3]. The hands are short and “pudgy” with marked excessive joint laxity, particularly of the metacarpal, phalangeal, and interphalangeal joints [1, 62]. The elbows typically lack full extension.…”