Monday, December 10, 2018

17 Year-old Girl with Unexplained Bruising

The patient is a 17 year-old girl whose first episode of bruising occurred after trauma sustained while playing soccer in March of 2018.  The middle child of three, she comes from a stable family.  She is an active varsity athlete.

For purposes of VGRD, the present illness consists of episodes of unexplained ecchymoses occurring every few months since March 19th, 2018.  This initial ecchymosis was tender and persisted for a month.  She has had three more episodes of bruising since then, not all related to antecedent trauma.

The patient has had poorly explained pelvic pain for two years, menometrothagia, and significant urinary retention necessitating self-catherization.  Extensive pediatric urologic evaluation at a major medical center found only a “lazy bladder.”

Other constitutional symptoms include nausea, vomiting and weight loss.  Over the past two years she has consulted multiple primary pediatricians, a pediatric endocrinologist, a neurosurgeon, a pediatric nephrologist, two pediatric urologists, a pediatric gastroenterologist, a pediatric gynecologist, a neurologist, and a pediatric hematologist. 

Thorough hematologic/coagulation workup was normal except for a minor platelet defect on electron microscopy that was felt insufficient to be causing the ecchymoses.

Two weeks ago she had another spontaneous episode of ecchymoses on her abdomen and neck, that are illustrated in photos.  Although her past ecchymoses have been tender, this most recent extensive bruise on the neck was very painful, and exquisitely tender to light touch.  Over the past two weeks these are slowly resolving.

On questioning both patient and her parents deny any adverse childhood experiences and nothing suggests a factitial etiology.

Clinical Photos:

Lab: Extensive laboratory studies have been normal.
An intradermal autoerythrocyte sensitization test has not been done yet.  Among the many studies done, an MRI showed a small pituitary microadenoma that was considered to be an incidentaloma.

Diagnosis:  The history and clinical appearance suggests Gardner Diamond Syndrome (Autoerythrocyte Sensitization Syndrome).

Questions:  GDS is a controversial diagnosis. 
1. What are your thoughts regarding this entity, especially in reference to this young woman?  She will see a pediatric rheumatologist and a pediatric  dermatologist and a pediatrician with a special interest in adolescent medicine. 
2. How can you tie together her disparate pelvic and urologic symptoms, as well as her unexplained nausea and vomiting with her bruising?

One can imagine how unsettling and scary the past two years have been for this young person and her family.  Your thoughts and suggestions will be appreciated.


  1. From Brian Maurer, Connecticut: In general terms one thinks about some sort of coagulopathy or recurrent vasculitis. That would certainly tie in with the menorrhagia and pelvic pain. Although the previous hematologic work up was reportedly negative, I would consider von Willibrand’s high on the list. There are any number of subtypes with varying degrees of expression. Another separate diagnosis apropos the pelvic pain and menstrual issues might be endometriosis.

  2. From Professor Sharquiek Baghdad: The spontaneous ecchymosis is not a rare skin problem seen among females without any other obvious complaints .It is usually recurrent over a period of time and then disappear and rarely severe ecchymosis.The auto erythrocytes sensitization theory should not be accepted easily as inflammatory reaction always precede ecchymosis.Accordingly there should be inflammation first that cause rupture of blood vessels then followed by ecchymosis???
    So the etiology till now could not be explained by the auto erythrocytes sensitization as such? Further thoughts might be helpful

  3. Richard Sontheimer, Salt Lake City: Interesting case. Except for the absence of overt psychological/psychiatric problems which a high percentage of such patients display, this clinical context would be consistent with the Gardner-Diamond syndrome except for the gynecologic and bladder problems. The recent Mayo Clinic series reported a positive “autoerythrocyte sensitization test” in less than half of patients meeting the other clinical criteria for the Gardner-Diamond syndrome. The current recommendations concerning management of Gardner-Diamond syndrome include a complete psychiatric evaluation and any such needed treatment. Treatment of any underlying mental health issues can help mitigate the painful bruising.

    The other thing that came to mind in this case of cyclic ecchymosis/bruising was cyclical thrombocytopenia. Has this girl's platelet count been checked during her menses which is the time point at which the platelet count is typically lowest in this curious hematologic condition? Cyclical thrombocytopenia could explain one component of this girl’s gynecologic history, menometrothagia.

  4. From Dato Cheng Leng, Malaysia: Instead of GDS, I would think of a more common condition in a young lady, like a connective tissue disease, especially Systemic Lupus Erythematosis which can be associated with antiphospholipid syndrome and or, leukocytoclastic vasculitis, which causes her bruising.
    The nausea and vomiting signifies the underlying systemic disease rather than innocent bruising.
    Her pelvic pain may be due to intermittent thrombosis of the iliac veins, possibly associated with her ‘lazy bladder’.

    Please add the following which I’ve forgotten at 2:30 am in the early morning:-

    1. The irregular and excessive menstrual flow can be explained by antiphospholipid syndrome.

    2. Leucocytoclastic vasculitic bruises are typically tender.

  5. from A.R. Pito, Norfolk Island: When I was in practice in Melbourne I saw an occasional case that was similar. These are patients with multiple somatic symptoms. Most of their complaints remain "medically unexplained." This suggests a functional somatic illness. Rheumatologic disease and bleeding diathesis needs to be ruled out; but a careful and sensitive psychiatric evaluation must to be performed. The prognosis for these young people is better than for older individuals. They may be reluctant to discuss personal issues, and their reticence should be respected.


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