A 29-year-old woman presents for evaluation of
changes in her skin, which she first noticed during her late teens. The
changes have been asymptomatic and slowly progressive, and various providers
have given different explanations for them at different times. However, she
has never been seen by dermatology prior to this visit, which is ostensibly
for treatment of hand warts and eyelid dermatitis.
Aside from being somewhat atopic, the patient is
in otherwise excellent health. Laboratory work done as part of a recent
physical showed her lipid levels to be well within normal limits. A discussion
of family history reveals she has a sister with the same type of skin changes;
however, she too has never received a definitive diagnosis from any of the
many providers who have evaluated her over the years.
The patient points to changes in several
intertriginous locations, including bilateral neck skin, both antecubital
areas, axillae, and crural folds. The skin in those areas has an odd
cobblestone-like papularity, appears atrophic, and is light yellow. The
changes are barely palpable. The midline posterior neck is spared, but the
same changes can be seen on oral mucosal surfaces. Elsewhere, there are no
signs of hypermobile joints or of cutis laxa. No evidence of excessive sun
exposure is observed.
Several punch biopsies show distorted, fragmented
elastic fibers in the mid to deep reticular dermis. Taken in context with the
clinical facts as presented, this probably means the patient has: