• 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-μm bodies in the papillary dermis. Ultrastructurally, the bodies were interpreted as abnormal elastic fibers.
(Arch Dermatol 1988;124:1411-1414)
Brennan TE, Pearson RW. Abnormal Elastic Tissue in Cartilage-Hair Hypoplasia. Arch Dermatol. 1988;124(9):1411-1414. doi:10.1001/archderm.1988.01670090067015