Chilblain Lupus

Hutchinson 1888.

Frostbite lupus, chilblain lupus erythematosus.

Rare variant of cutaneous lupus erythematosus whose skin changes resemble frostbite (= chilblain).

• < 100 cases described
• Almost only in women
so far
• occurring at low temperatures

The exact cause is unknown. There is at least a genetic component, as familial forms of "chilblain lupus" have been described

Livid pressure-dolenous, partly hyperkeratotic, sometimes hyperaesthetic, cushion-like swellings, plaques and nodules. There may be central atrophy, but also erosions or ulcers.

• S. cutaneous lupus erythematosus.
• Note:
  • Frequently elevated: γ-globulins, ANAs, ds-DNA-Ak, antiphospholipid-Ak, anti SSA/Ro, ESR, pos. Rh factor
  • Association with SLE in about 20%

Cold exposed areas.

Orthohyperkeratosis, atrophy of the surface epithelium, perivascular lymphocellular infiltrates, intraluminal fibrin deposits.

Transition to an SLE.

Often chronic.

• Consistent cold protection
• S. cutaneous lupus erythematosus

1. Millard LG, Rowell NR. Chilblain lupus erythematosus (Hutchinson) A CLINICAL AND LABORATORY STUDY OF 17 PATIENTS. Br J Dermatol 1978;98:497-506.
2. Doutre MS, Beylot C, Beylot J, Pompougnac E, Royer P. Chilblain Lupus erythematosus: Report of 15 Cases. Dermatology 1992;184:26-8.
3. Kanwar AJ, Ghosh S, Dhar S. Chilblain Lupus erythematosus and Lupus pernio &ndash; the same Entity? / Erratum. Dermatology 1992;185:160-.
4. Franceschini F, Calzavara-Pinton P, Quinzanini M, et al. Chilblain lupus erythematosus is associated with antibodies to SSA/Ro. Lupus 1999;8:215-9.
5. Lee-Kirsch MA, Gong M, Schulz H, et al. Familial Chilblain Lupus, a Monogenic Form of Cutaneous Lupus Erythematosus, Maps to Chromosome 3p. The American Journal of Human Genetics 2006;79:731-7.
6. Rice G, Newman WG, Dean J, et al. Heterozygous Mutations in TREX1 Cause Familial Chilblain Lupus and Dominant Aicardi-Goutières Syndrome. The American Journal of Human Genetics 2007;80:811-5.