Primary Raynaud's phenomenon in monozygotic twins

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ls of the Rheumatic Diseases 2004;63:219

© 2004 by BMJ Publishing Group Ltd & European League Against Rheumatism

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LETTER

Primary Raynaud's phenomenon in monozygotic twins

T Oskay1 and Ü Ölmez2

1 Department of Dermatology Bayndr Medical Centre Ankara, Turkey

2 Department of Clinical Immunology and Rheumatology, Ankara University

Faculty of Medicine Ankara, Turkey

Correspondence to:

Dr T Oskay

Mesa Park Sitesi Sedir Apt, Daire: 44 06400 Oran, Ankara, Turkey;

tubaoskay@...

Accepted 27 March 2003

Keywords: Raynaud's phenomenon; twins

We report two cases of primary Raynaud's phenomenon in 16 year old

monozygotic female twins.

CASE REPORT

The twins were admitted to the dermatology department with a one year

history of the sudden onset of episodic purple lesions on both hands.

Presentation of the lesions in the twins was synchronous. After careful

questioning, we determined that it was usually induced by emotion or

cold temperature. On dermatological examination, the order of purple

discolouration, erythema, and pallor was observed symmetrically in both

hands. There was no history of smoking, the use of drugs, occupational

hazard, or trauma. They also had sensations of coolness and

paraesthesia. Photographs of the hands were obtained during an attack

and used to confirm the history. We also performed a provocative

test-namely, immersion of the patient's hand in ice water for three

minutes, to confirm the diagnosis. Nailfold capillaroscopy examination

also demonstrated normal capillaries. The female twins were born at 38

weeks of gestation by caesarean section. Obstetric anamnesis was normal.

The twins' past medical history was unremarkable. Their parents were

relatives, but the family history was negative for cutaneous or collagen

vascular disease.

Results of laboratory examinations, including complete blood count,

biochemistry, urine analysis, thyroid function tests, serum

cryoglobulins, complement levels, immunoglobulins, erythrocyte

sedimentation rate, and C reactive protein, were normal. Serological

testing for antinuclear antibody, anticardiolipin antibodies, and

antibody to Ro, La, dsDNA, ribonucleoprotein, and antigen were

negative. The twins were diagnosed as monozygotic with almost complete

certainty by examining the ABO blood type, HLA typing, fingerprints, and

from the physical resemblance between them. Identical HLA antigens were

HLA-A2, A24, B17, B57, Cw3, Cw6, DR4, and DR11. Medical evaluation

subsequently disclosed no disorder known to cause secondary Raynaud's

phenomenon (RP).

DISCUSSION

RP is an exaggerated vascular response to cold temperature or emotional

stress, primarily seen in young women. It is classified into primary or

idiopathic without underlying disease and secondary when it is related

to various medical problems.1,2 Clinical criteria are used to

distinguish between patients with uncomplicated or primary RP, and those

with secondary RP. The suggested criteria for primary RP are symmetric

attacks; the absence of tissue necrosis, ulceration or gangrene; the

absence of a secondary cause on the basis of a patient's history and

general physical examination; normal nailfold capillaries; a negative

test for antinuclear antibody; and a normal erythrocyte sedimentation

rate.2,3 The most common diseases associated with secondary RP are

scleroderma, mixed connective tissue disease, systemic lupus

erythematosus, occlusive vascular disease, drug effects, haematological

abnormalities, and use of vibrating tools.1,3 Primary RP occasionally

evolves into a connective tissue disease, most commonly scleroderma.2,4

Even though the cause of primary RP is not known, increased 2

sympathetic receptor activity on vessels, endothelial dysfunction,

deficiency of calcitonin gene related peptide, protein-containing

nerves, or some central thermoregulatory defect have been implicated.4,5

A genetic cause for primary RP was first suggested by and

Pickering, based on an apparent familial aggregation of primary RP.2,7,8

MacGregor et al first assessed the genetic basis of RP in a population

based twin study and found a substantial genetic contribution to the

symptoms of RP.9 Recently, three potential candidate genes have been

described in the genetic susceptibility to primary RP.10

To the best of our knowledge, this is the first report documenting the

occurrence of primary RP in monozygotic twins. Association with HLA

antigens, parental consanguinity, and development in identical twins may

indicate that genetic factors have a role in the occurrence of this

disease. Larger series of twins and investigation of multicase families

are needed to clarify the genetic component in the pathogenesis of

primary RP.

ACKNOWLEDGEMENTS

We thank Omer Edip Erdemli MD, for his assistance in patient care.

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