The correct answer is the need for referral to a geneticist (choice “d”), who will sort through the differential diagnosis for persons with cutis laxa and/or hypermobile joints. This combination of findings strongly suggests that this patient has Ehlers–Danlos (ED) syndrome (choice “a”). However, since there are at least nine types of ED syndrome, as well as a dizzying array of other diagnostic possibilities and inheritance modes, a geneticist is the specialist most likely able to not only establish a diagnosis but also advise the patient about necessary follow-up.
Pseudoxanthoma elasticum (choice “b”) involves heritable deposition of fragmented collagen fibers in intertriginous skin, eventuating in calcification and weakening of vessel walls. It does not involve cutis laxa or hypermobile joints.
Marfan syndrome (choice “c”) is another heritable condition that affects people of very tall and slender build, most of whom also have hypermobile joints.
This case highlights the need to become familiar with the so-called genodermatoses, inheritable conditions with prominent cutaneous features. One might properly ask what difference it could make in this healthy patient’s life, but there are solid answers to that question. For one thing, if this patient has ED syndrome, it could easily affect her children or siblings, who, like her, will be at risk for any number of problems related to poor connective tissue involvement of vasculature. Such complications include retinal or intracranial bleeds, major problems with premature rupture of membranes, and premature delivery with major postpartum bleeds. Screening for and avoidance of these possibilities are major goals, once a diagnosis is made.
Other genodermatoses include neurofibromatosis and tuberous sclerosis.