We answered this question for a patient without insurance the other day. We asked for client pay pricing at a number of large genetic testing companies that perform EDS testing. To clarify, EDS testing for which we obtained pricing was usually for panels that tested for multiple subtypes of EDS as well as Marfan and syndromes associated with vascular aneurysms. The reason for this is that with improvement in molecular diagnostic technology, we know that there is great variability between individuals and the old classifications based on pure clinical features is not as relevant. The clinical features can hint at one type of EDS over another but the reality is that every individual has different manifestations based on their own private genetic alterations within the various proteins involved in collagen synthesis, assembly and degradation. As a result, it is much better to do broad panel testing.
I have had numerous patients prove me wrong. Based on clinical criteria, I have diagnosed Hypermobile type only to find out with testing that they had classic or another version of EDS. The variability between individuals is what makes us unique.
$1500-$1750 not including medical consultation
Why Unexplained and Persistent Rash may need further evaluation – The Signof Lesar-Trelat
Today I saw a 64 year old woman who had a persistent rash on her legs, arms and back. The rash was small raised bumps that were red or blanched. The rash itched tremendously and she had only minor relief with topical cortisone.
She went to an Urgent Care center and was prescribed prednisone a steroid to take. After taking the first dose, she felt dizzy and so stopped this medication. She then made an appointment with a Dermatologist. The first dermatologist prescribed a stronger topical steroid and did a skin biopsy since the rash was persistent. The steroid cream was too expensive and the patient was unable to fill it. The biopsy results showed inflammatory dermatitis. She then went to a second dermatologist who then performed a shave biopsy on a different lesion on her back. The pathology results showed eosinophilic infiltration and non-specific dermatitis.
She came to our clinic for further evaluation. A complete physical examination did not reveal any significant findings. A more thorough medical history was obtained. She then reported that at one point, she had unexplained abdominal pain that was transient but lasted a few months and as part of the evaluation, a CT-abdomen was performed which showed a small lesion over her kidney. The recommendation was to follow-up with a repeat CT scan in 6 months which due to travel and other circumstances she was unable to do.
A follow-up CT scan showed a mass above the left pole of the kidney.
The Sign of Lesar Trelat – is defined as the sudden appearance of skin lesions caused by an associated cancer. The more typical skin lesions are seborrheic keratosis but other skin findings can also be found. The sign was first described by Dr. Leser and Dr. Trelat who noted skin angiomatosis in patients with intra-abdominal cancer. The cause of the various skin findings is a consequence of growth factors secreted by the cancer. It is usually associated with a type of cancer called an adenocarcinoma.