Recurrent limb mottling and pleuritic pain in a young woman

presented by

Julianne Mann MD (1)

Sam Hopkins MD (2)

Portland, OR, USA

October 1, 2010

(1) Dermatology resident, Oregon Health and Science University, Portland, Oregon, USA

(2) Attending physician, Oregon Health and Science University, Portland, Oregon, USA


26 yo woman with recurrent unilateral limb mottling and swelling associated with pleuritic pain.

26-year-old Jordanian woman
Several days
Trunk and left upper extremity

This is an otherwise healthy 26 yo Jordanian woman from who developed mottling and swelling of the left upper extremity along with shortness of breath and left-sided pleuritic chest pain, while hiking at Smith Rock in Oregon.  It resolved after she took four Ibuprofen.  She had a similar episode again a few days ago.  She has never taken oral contraceptives, and is on no medications.

The patient reports that when she was a young child, a surgeon refused to perform a tonsillectomy on her because of a "clotting abnormality" that was found on routine pre-op bloodwork.  She has two grandparents who have had "blood clots in the lungs", but no family history of ischemic events.  I spoke with the patient this week and she continues to have periodic episodes of pain and mottling in the left arm, accompanied by pleuritic chest pain. 

There is no family history of autoimmune connective tissue disease. 

Physical Examination

Reticulated, mottled erythema over the left upper arm, forearm, scapula, and left medial chest and breast, with linear areas of what look like vasocontriction.  Her fingers were slightly cool to the touch.


Laboratory Data

Patient has been seen twice by vascular surgery who feels that this is not a vascular process 
CT angiogram of the chest was performed on 9/18 which showed no evidence of a pulmonary embolism.  The arm was not included in this imaging.

Venous and arterial doppler ultrasounds were performed of the L upper extremity on 9/18 which were normal.

INR was repeatedly elevated at ~1.6, but patient had been fasting for Ramadan so this was felt to be due to low Vitamin K levels in the gut.

Blood chemistry and CBC normal

Coagulation studies all normal, including fibrinogen, Protein C/S, Antithrombin III, Factor V, homocysteine levels

ANA 1:40 speckled, ENA negative
ANCAs, cryoglobulins negative
HIV, and Hepatitis B negative
CRP < 0.5, ESR 24
troponins negative
EKG normal

*The patient is scheduled for MRI of the left upper extremity tomorrow.





Reason for presentation

What Ideas do you have?  After all of the coagulation studies came back normal we were somewhat stumped.  Some vasospastic process?  Reflex sympathetic dystrophy?  It is hard to piece together the shortness of breath and pleuritic chest pain with those things.


We believe that this is either a vascular or neurologic process, or a combination of both.  Could this be thoracic outlet syndrome, or reflex sympathetic dystrophy?  What additional imaging or workup would you order for this patient? 


Zimmerman NV. Occclusive vascular disorders of the upper extremity.  Hand Clin. 1993 Feb;9(1):139-50.
Garnier D et al.  Arterial complications of thoracic outlet syndrome and pseudoarthrosis of the clavicle: three patients.  J Mal Vasc. 2003 Apr;28(2):79-84.


livedo reticularis, skin mottling, pleuritic chest pain, arm swelling

Comments from Faculty and Members

Victoria Werth MD, Professor, Department of Dermatology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA on October 1, 2010

Would strongly consider antiphospholipid syndrome.  aPTT can be prolonged because of the autoantibodies. The mottled skin findings are consistent and she could be have pulmonary emboli as a cause her pleuritic chest pain. Would check a panel:  aPTT, RVVT, lupus anticoagulant, anti-phospholipid antibody, to rule this out.

If positive, she needs evaluation for pulmonary emboli, and further treatment for this and antiphospholipid syndrome.

Khalid el-Aboud MD, Medical Director and Consultant Dermatologist, King Faisal Hospital, Makkah, Saudi Arabia on October 1, 2010

Among the differential diagnoses, I want to draw the attention of the authors to the possibility of factitial disorder in this case. The general clue is that, when the pattern of presentation does not fit with common diseases, one may think about self-induced changes. This patient might have a Secrétan's syndrome.

Secrétan's disease is an injury that is self-inflicted either for secondary gain or as a conversion reaction and present with limb edema that might be associated with vascular changes. It is best treated with conservative care and psychiatric counseling. It was first described in 1901 as "hard edema and traumatic hyperplasia of the dorsum of the metacarpus." Lower limb involvement can occur in Secretion's disease.

Needless to say that other differential diagnoses to be considered in this case include:
Connective tissue diseases like SLE, dermatomyositis, scleroderma
Blood diseases like cold agglutinin diseases, antiphospholipid syndrome.
Disease related to the cold exposure like cryoglobulinemia and frost bite.
Reynaud's disease
Vascular diseases like Buerger disease
Exanthema related to viral infection.

For further reading about Secrétan's disease please see the following references. Moretta DN , Cooley RD Jr. Secrétan's disease: a unique case report and literature review. Am J Orthop (Belle Mead NJ). 2002 Sep; 31(9):524-7.
Winkelmann RK , Barker SM. Factitial traumatic panniculitis. J Am Acad Dermatol. 1985 Dec; 13(6):988-94.
Abnousi F , Chou LB. Secretan's disease of the foot: a case report and review. Foot Ankle Int. 2008 Feb; 29(2):248-50.

Michael LaCombe MD, Internal Medicine Physician, Maine General Medical Center, Augusta, ME, USA on October 2, 2010

Lacking:  Blood pressure measurements in both arms; chest auscultation for pleural friction rubs; examination of digital nail folds for thrombi; d-dimer assay; echocardiogram for PA systolic pressures and evidence of RV pressure overload

Most likely APL syndrome with multiple pulmonary emboli

el-Azhary, Rokea A., M.D., Ph.D, Professor of Dermatology, Mayo School of Medicine, Rochester, Minnesota, USA on October 2, 2010

The clinical cutaneous pattern is linear scleroderma.  Have seen it before and looks early on very much like a vascular process.  Can't explain the pleuritic chest pain, unless it is related to the sclerodermatous tightening process.

Julianne Mann MD, Dermatology resident, Oregon Health and Science University, Portland, OR, USA on October 3, 2010

Thank you to everyone who has posted. 

Some additional information: the patient was managed while in house by the family medicine service who reported no friction rubs.  Blood pressures in both arms were normal.  There was one tiny splinter hemorrhage in one fingernail plate, nailfolds were normal. 

We too strongly considered anti-phospholipid antibody syndrome.  Anti-cardiolipin antibodies and lupus anticoagulant were ordered but for some reason were not performed while the patient was in house, so she will be having these done this coming week.

MRI of the L upper extremity yesterday was normal.

Yoon Cohen, University of New England College of Osteopathic Medicine, Portland, Maine, USA on October 5, 2010

I'm just wondering if we have ruled out erythromelalgia if I may share my thoughts on this case.

While it commonly presents in the distal extremities and bilaterally, there are cases reported that it could present unilaterally, particularly in secondary erythromelalgia. For example with myeloproliferative disorder. In that case symptoms could precede diagnosis of the myeloproliferative disorder by about 2.5 years [1] so she does not necessarily have abnormal CBC today. Dramatic relief with aspirin or NSAIDs could be typical of this type according to the reference.

Thank you for letting me participate in the discussion.

Raed Alsmadi MD, Consultant Dermatologist, Amman, Jordan on October 6, 2010

Very good case  I think a rheumatologist should be consulted. I think this can be a vascular manifestation of Behcet's disease  where we can have pulmonary lesion include thrombosis in the superior vena cava, or mediastinal vein, aortic or pulmonary arterial aneurysm, pulmonary infarct, hemorrage, pleural effusion, focal or diffuse pulmonary fibrosis as caused by vasovasorum vasculitis of pulmonary vessels. Also the upper extremities have arterial occlusion.

Bashir Zendah MD, Senior Registrar, Department of Dermatology, Tripoli Medical Centre, Tripoli, Libya on October 9, 2010

Good case to do a skin biopsy and exclude urticaria vasculitis and its associations.

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