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Updated: Aug 13, 2026

Isolation and Culture of Adult Epithelial Stem Cells from Human Skin
Published on: March 31, 2011
Abnormal elastic tissue in cartilage-hair hypoplasia
1Department of Dermatology, Rush-Presbyterian-St Luke's Medical Center, Chicago, IL 60612.
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.
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