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Pernio/Chilblains

Key points

  • Chilblains (pernio) is a benign condition that occurs in cold, damp environments and presents with symmetric, distal, transient red-to-purple lesions on the extremities.
  • Treatment is centered on keeping the patient warm and avoiding exposure to cold, damp environments.
  • Cases which persist or occur in association with systemic symptoms may be an indication of a multisystem disease such as chilblain lupus erythematosus, a rare variant of systemic lupus

Introduction

Chilblains, also termed pernio, is a benign inflammatory condition of the distal skin which occurs in cold, damp environments. The skin findings of chilblains typically occur in subfreezing, moist climes during the late fall and winter and are due to persistent exposure to temperatures presumed to transient vascular changes in the periphery.

In the United States, most patients present with skin findings between December and January, though the disease is overall more common in England and northern Europe. Chilblains is rare in regions of extreme cold, as most people require warm houses with central heating, and warm layered clothing during outdoor exposure. The condition is more common in women than men, with about a 2:1 ratio. Most reports are in white patients who are young to middle-aged. Patients with low BMI seem to be at increased risk.

Lesions of chilblains typically occur 1-5 hours after prolonged exposure to cool, damp air, and develop as single or multiple erythematous-to-purple macules, papules, plaques, or nodules; diffuse lesions over the digits may be seen. Lesions are more common on the dorsal aspects of the digits, and may be pruritic, painful (burning or tingling), and are often tender to palpation. Erosions, ulcers, and blisters may occur but are rare. Involvement of the feet is most common, followed by the hands. When the lesions appear they are often bilateral and affect cool extremities, particularly the digits. The nose, ear, lateral thighs, and buttocks may be involved.

The pathophysiology is uncertain, though it is believed that patients with pernio have a disruption of neurovascular responses to skin temperature change. Vessels in the skin have multiple protective physiologic responses to dilate and constrict variably based on the need to conserve heat or to ensure tissue perfusion and prevent ischemia; in patients with pernio some have postulated that there is either prolonged vasoconstriction leading to mild tissue hypoperfusion and localized inflammation in response to tissue injury. Vasospasm, hyperviscosity, or (in some patients) autoimmunity may alternatively be responsible for the disease.

The main treatment is keeping warm. Maintaining core body temperature warmth is essential, but layering warm garments over the affected or disease-prone extremities is important as well. Individual lesions will often resolve with warming, though it often requires days to a few weeks to completely return to normal. Intensely inflamed or extensive lesions may take weeks to months to completely resolve. Lesions that take many months to resolve or fail to resolve should prompt consideration of alternate diagnoses, particularly chilblains lupus erythematosus. Pharmacological interventions are often not required, although there are reports of nifedepine and other calcium channel blockers being helpful in treating or preventing recurrent perniosis.

The terminology of this condition may be a source of confusion; given the rare potential systemic disease associations reported in patients exhibiting idiopathic chilblains (pernio) lesions, it is worth a brief discussion. Lupus pernio refers to classic violaceous nodules and plaques on the central face in patients with sarcoidosis; pernio and chilblains refer to the idiopathic cold-induced skin lesions described herein. Chilblain lupus erythematosus is a rare subtype of systemic lupus which presents with distal digital lesions similar (or in some cases identical to) those seen in idiopathic chilblains.

Patients with chilblains may rarely have associated diseases, and in severe, atypical, persistent, or recurrent cases, a systemic workup may be indicated. Idiopathic chilblains (pernio) is rarely associated with joint inflammation, and the presence of arthritis should prompt consideration for multisystem disease. Patients with chilblains lupus erythematosus often exhibit cutaneous pernio lesions which fail to respond or respond only minimally over months. Patients with other features of systemic lupus who present with distal digital lesions consistent with pernio warrant a systemic evaluation. While not required for the diagnosis, patients with idiopathic pernio may undergo skin biopsy, and should features of interface dermatitis and histologic findings suggestive of lupus be noted, those patients should undergo an evaluation for possible chilblain lupus erythematosus.

The presence of angulated, retiform purpura, or nonblanching sharply angled distal lesions, may prompt a consideration of a systemic thromboembolic disease, including cryoglobulinemia or anti-phospholipid antibody syndrome. Lesions of pernio have been reported in patients with chronic myelomonocytic leukemia, and patients with extensive or atypical cutaneous lesions, cellular atypia on histology, or suggestive systemic symptoms warrant an evaluation. Raynaud phenomenon involves acute vaso-occlusive/vasospasm leading to the entire affected digit(s) turning purple, red, and white, as opposed to the more localized lesions of pernio.

Initial Evaluation

Differential diagnosis

Cryoglobulinemia

Raynaud phenomenon

Chilblain lupus erythematosus

Treatment

First-line therapy: The main treatment involves getting the affected areas warm, and keeping them warm. Wet, constrictive clothing should be removed immediately. The affected skin should be kept warm and dry, with loose, layered clothing, and the subject should stay in a warm environment. The best way to maintain distal extremity warmth is to keep the core warm as well, and it is essential that patients wear warm, layered clothing proximally as well as distally.

First steps

  • Warm clothes
  • Avoid cold, damp environments

Ancillary steps

  • Calcium channel blockers, particularly nifedipine, may alleviate lesions and prevent recurrence.
  • There are reports of ultraviolet light phototherapy leading to decreased numbers of and severity of lesions, particularly when instituted prophylactically at the beginning of the cool season.

Subsequent steps

  • True idiopathic chilblain (pernio) is a self-limiting disease wherein lesions should all resolve completely, although in some cases that may take weeks to months.
  • Individual symptomatic lesions may benefit from topical over-the-counter antipruritic agents or weak anti-inflammatory agents, but there exists little evidence to support their use.
  • Persistent lesions should prompt an evaluation for systemic diseases, particularly chilblains lupus erythematosus or chronic myelomonocytic leukemia. The presence of thromboses should prompt consideration of thrombotic disorders including cryoglobulinemia or anti-phospholipid antibody syndrome.

Pitfalls

  • Chilblain lupus erythematosus may present with lesions identical to idiopathic chilblain (pernio). Patients with lesions that fail to resolve with warming or that persist for months, or patients with arthritis/arthralgia or other systemic symptoms should undergo a thorough review of systems and targeted laboratory workup.
  • The presence of retiform purpura or nonblanching purpuric lesions should prompt consideration for a thrombotic process such as cryoglobulinemia or anti-phospholipid antibody syndrome
  • Chronic myelomonocytic leukemia may present with lesions consistent with pernio on the extremities, including during blast crisis. The presence of other signs and symptoms suggestive of a hematologic disorder should prompt a systemic workup.

Clinical Case

Case 1

  • 30-year-old healthy woman
  • No significant past medical history
  • Review of systems is noncontributory, notably negative for fever, joint pains, bleeding gums, or easy bruising
  • Social history is unremarkable, except for a recent trip to England to visit relatives, went horse-back riding in the damp countryside
  • Presents in December for management of red-purple tender papules on the dorsal toes, which occurred in a similar distribution almost exactly a year ago after another trip to England

Initial evaluation

  • Healthy appearing woman
  • Scattered varying sized red-to-purple papules and plaques, partially blanching, on the dorsal toes arrayed roughly symmetrically
  • No other skin lesions
  • Normal joint exam
  • Diagnosis: pernio
  • Recommend warm, layered clothing, extra socks, and careful monitoring of temperature and clothing, including avoiding any damp clothes, both now and on future trips to England
  • Follow-up if fails to respond

Follow-up evaluation

  • Patient notes symptomatic relief and feels the papules resolved after about 2-3 weeks
  • Maintain warm attire and avoid cool, damp environments
  • Follow-up as needed; report any systemic symptoms such as joint pain

References

Brown PJ, Zirwas MJ, English JC 3rd (2010) The purple digit: an algorithmic approach to diagnosis. Am J Clin Dermatol 11:103-116.

Hedrich CM, Fiebig B, Hauck FH, Sallmann S, Hahn G, et al (2008) Chilblain lupus erythematosus: a review of the literature. Clin Rheumatol 27:949-954.

Lutz V, Cribier B, Lipsker D (2010) Chilblains and antiphosphlipid antibodies: report of four cases and review of the literature. Br J Dermatol 163:645-646.

Page EH, Shear NH (1988) Temperature-dependent skin disorders. J Am Acad Dermatol 18:1003-1016.

Prakash S, Weisman MH (2009) Idiopathic chilblains. Am J Medicine 122:1152-1155.

Tlougan BE, Mancini AJ, Mandell JA, Cohen DE, Sanchez MR (2011) Skin conditions in figure skaters, ice-hockey players, and speed skaters. Part II – Cold-induced, infectious, and inflammatory dermatoses. Sports Med 41:967-984.

Yang X, Perez O, English JC 3rd (2010) Adult perniosis and cryoglobulinemia: a retrospective study and review of the literature. J Am Acad Dermatol 62:e21-2.