Description
This 39-year-old woman came to our clinic because of severe cyanotic fingers (figure 1), toes, nose and ears, with wounds in the back of both hands but without necrosis (figure 2). These were longstanding and very disabling symptoms, in intimate relation with cold exposure, persisting all winter (temperatures around 5–10°C) and disappearing in the summer. There were no other identified triggering factors. She did not have a classic three-phase Raynaud's phenomenon or other accompanying signs and symptoms, such as fever or arthralgias. She was a non-smoker and her medical history was unremarkable, and so was her familial history. There was no chronic or occasional medication intake. Blood tests were unremarkable, including autoimmunity (ANA, ENA, anti-ds-DNA antibodies and antiphospholipid antibodies), cryoglobulins, complement, rheumatoid factor, lupus anticoagulant, Veneral Disease Research Laboratory (VDRL), HIV and hepatitis C serologies. Nailfold capillaroscopy was unremarkable (no sclerosis, no giant capillaries and no major tortuosities). Skin biopsy showed dermal and hypodermal perivascular, perifollicular and perieccrine lymphocytic infiltrate, without interface changes, thus ruling out lupus and confirming the diagnosis of perniosis (despite the absence of oedema).
Figure 1.
Severe cyanotic fingers, with desquamative lesions and wounds in the back of both hands. Both palms were free of lesions and there was no evidence of livedo reticularis or necrosis. Picture taken after 30 min in a room with a temperature of 23°C
Figure 2.
Large wound on the back of left hand. Cyanotic fingers and desquamative lesions. Lesion probably in relation with continuous cold exposure and minor traumatic events.
Furthermore, the lack of systemic symptoms or thrombotic events (especially in the extremities) made it less likely to be cryofibrinogenaemia1; keratolytic winter erythema was improbable since there was no familial history, other triggering factors (such as stress or menstruation), centrifugal peeling of the skin on the palm and skin biopsy did not show typical compacted parakeratotic layer.2 The absence of concomitant fever, arthralgia and joint swelling ruled out familial cold autoinflammatory syndrome. Biopsy and blood tests ruled out lupus.
Treatment with vasodilators was moderately effective.
Perniosis (or pernio) is a common condition, within the spectrum of acrosyndromes and Raynaud's phenomenon.3 It manifests as painful erythematous or violaceous papules on the extremities. Most cases resolve in a few weeks. Severe lesions, like those found in our patient, are very rare.
Learning points.
Perniosis is a relatively common condition which can be very disabling.
Severe lesions, namely wounds, are rare but may occur in this setting.
Ruling out other conditions is essential, since most cases of perniosis respond well simply to symptomatic treatment.
Footnotes
Contributors: MMG is the responsible physician for this patient and respective diagnosis and for writing the article. LS revised the article.
Competing interests: None.
Patient consent: Obtained.
Provenance and peer review: Not commissioned; externally peer reviewed.
References
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