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Childhood Chilblain Lupus Erythematosus

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Eui Hyun Oh
Eui Hyun Oh
Eui Hyun Oh
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Jae-Bum Jun
Jae-Bum Jun
Jae-Bum Jun
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Joo Yeon Ko at Hanyang University
Joo Yeon Ko
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269
Received：April 7, 2015, Revised：April 28, 2015, Accepted：May 13, 2015
Corresponding to：Joo Yeon Ko, Department of Dermatology, Hanyang University College of Medicine, 222 Wangsimni-ro, Seongdong-gu, Seoul
04763, Korea. E-mail : drko0303@hanyang.ac.kr
pISSN: 2093-940X, eISSN: 2233-4718
Copyright ⓒ 2015 by The Korean College of Rheumatology. All ri ghts reserved.
This is a Free Access article, which permits unrestricted non-commerical use, distribution, and reproduction in any medium, provided the original work is properly cited.
Clinical Image
Journal of Rheumatic Diseases Vol. 22, No. 4, August, 2015
http://dx.doi.org/10.4078/jrd.2015.22.4.269
Figure 1. (A) Multiple erythematosus scaly plaques were ob-
served on dorsal aspects of patient’s hands. (B) Similarily, his
father showed erytheamtous skin lesions on dorsum of hands.
Childhood Chilblain Lupus Erythematosus
Eui Hyun Oh1, Jae-Bum Jun2, Joo Yeon Ko1
Departments of 1Dermatology and 2Internal Medicine, Hanyang University College of Medicine, Seoul, Korea
Chilblain lupus erythematosus (CLE) is a rare form of
cutaneous lupus erythematosus (LE) and diagnosed by
chilblain like skin lesions in acral locations induced by
cold exposure and characteristic histopathologic findings
similar to LE [1]. Sometimes, CLE can coexist with other
cutaneous LE and have one of the other American College
of Rheumatology criteria for systemic LE [2]. Patients
with CLE should avoid cold exposure and could usually
be controlled by anti-LE therapy such as topical or sys-
temic steroid and antimalarial agents [1,2].
We describe a 14-year-old boy with a history of painful,
cold-induced inflammatory lesions on his fingers, toes,
and ears since infancy. Recurrent episodes of these skin
changes in every winter led to postinflammatory hyper-
pigmentation and skin hardening on the multiple knuck-
les of the hands and both ears (Figures 1 and 2). His father
had suffered from similar lesions (Figures 1 and 2) in win-
ter since childhood but symptoms had ameliorated with
age. Histopathologic and direct immunofluorescent find-
ings from biopsied skin were compatible with LE (Figure
3). After treatment with systemic steroid and hydroxy-
chloroquine for diagnosed CLE, significant improvement
was observed.
Unlike sporadic CLE whose pathogenesis remains un-
known, two missense mutations in TREX1 were de-
scribed in several cases of familial CLE [3-5]. Although
sequencing of TREX1 was not carried out in this case, pa-
tient’s family history and early onset of disease could lead
to his diagnosis of childhood CLE with a familial trait.
CONFLICT OF INTEREST
No potential conflict of interest relevant to this article
was reported.
REFERENCES
1. Hedrich CM, Fiebig B, Hauck FH, Sallmann S, Hahn G,
Pfeiffer C, et al. Chilblain lupus erythematosus: a review of
literature. Clin Rheumatol 2008;27:949-54.
2. Viguier M, Pinquier L, Cavelier-Balloy B, de la Salmonière P,
Cordoliani F, Flageul B, et al. Clinical and histopathologic
Eui Hyun Oh et al.
270 J Rheum Dis Vol. 22, No. 4, August, 2015
Figure 3. (A) Histopathologic ex-
amination revealed interface der-
matitis and prominent periap-
pendigeal, perivascular and peri-
neural lymphohistiocytic infilt-
rates throughout the entire der-
mis (H&E, ×40). (B) Lesional di-
rect immunofluorescence results
showed granular deposits of im-
munoglobulin M in the basement
membrane zone (×200).
Figure 2. Erythematous to pur-
puric swollen scaly patches were
noted on the ear of the patient (A,
B) and his father (C, D).
features and immunologic variables in patients with severe
chilblains. A study of the relationship to lupus erythema-
tosus. Medicine (Baltimore) 2001;80:180-8.
3. Tüngler V, Silver RM, Walkenhorst H, Günther C,
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partate 18 of TREX1 results in either familial chilblain lupus
or Aicardi-Goutières syndrome. Br J Dermatol 2012;167:
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4. Abe J, Izawa K, Nishikomori R, Awaya T, Kawai T, Yasumi
T, et al. Heterozygous TREX1 p.Asp18Asn mutation can
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Chilblain lupus erythematosus—a review of literature
Article
Full-text available
  • Nov 2008
  • CLIN RHEUMATOL
Chilblain lupus erythematosus (CHLE) is a rare, chronic form of cutaneous lupus erythematosus. Sporadic cases and two families with autosomal dominant-inherited CHLE have been reported. In familial CHLE, two missense mutations in TREX1 encoding the 3′–5′ repair exonuclease 1 were described in affected individuals. The pathogenesis of sporadic CHLE remains unknown. Up to 20% of patients develop systemic lupus erythematosus (SLE). An association with anorexia is discussed. In many cases, there is good response to symptomatic therapy. SLE therapeutics have good effects on SLE-typical symptoms but not on chilblains themselves. This article reviews the clinical presentation, pathogenesis, diagnosis and treatment of CHLE. As an index patient with unique features, we report a 13-year-old boy developing CHLE after anorexia nervosa. Sequencing of TREX1 was normal. With psychotherapeutic support for anorexia and after antibiotic therapy, topical steroids, physical warming and calcium channel blockers, the patient experienced significant relief. Improvement of phalangeal perfusion was demonstrated by angio-MRI.
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Chilblain lupus erythematosus-A review of literature
Article
Full-text available
  • Sep 2008
Chilblain lupus erythematosus (CHLE) is a rare, chronic form of cutaneous lupus erythematosus. Sporadic cases and two families with autosomal dominant-inherited CHLE have been reported. In familial CHLE, two missense mutations in TREX1 encoding the 3'-5' repair exonuclease 1 were described in affected individuals. The pathogenesis of sporadic CHLE remains unknown. Up to 20% of patients develop systemic lupus erythematosus (SLE). An association with anorexia is discussed. In many cases, there is good response to symptomatic therapy. SLE therapeutics have good effects on SLE-typical symptoms but not on chilblains themselves. This article reviews the clinical presentation, pathogenesis, diagnosis and treatment of CHLE. As an index patient with unique features, we report a 13-year-old boy developing CHLE after anorexia nervosa. Sequencing of TREX1 was normal. With psychotherapeutic support for anorexia and after antibiotic therapy, topical steroids, physical warming and calcium channel blockers, the patient experienced significant relief. Improvement of phalangeal perfusion was demonstrated by angio-MRI.
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Clinical and Histopathologic Features and Immunologic Variables in Patients with Severe Chilblains: A Study of the Relationship to Lupus Erythematosus
Article
  • May 2001
We investigated 33 patients affected with chilblain lesions following a persisting course of more than 1 month. We focused on the incidence of an underlying connective tissue disease, mostly lupus erythematosus (LE), and we analyzed features of idiopathic chilblains compared with those of chilblain lesions associated with connective tissue disease. We also carried out a prospective follow-up of patients. Eleven patients included in the study were free of any clinical and/or laboratory abnormality suggestive of connective tissue disease, while 22 of 33 patients showed 1 or several abnormalities raising suspicion for connective tissue disease, and among them 8 had a diagnosis of systemic lupus erythematosus (SLE) established at initial evaluation based on the American College of Rheumatology revised criteria. The comparative analysis of patients with idiopathic chilblains and patients with chilblains associated with LE showed that female sex and persistence of lesions beyond cold seasons were significantly associated with chilblain LE. Histopathologic studies of chilblain lesions did not reveal features typical of LE in any case, but revealed a higher incidence of a deep perisudoral infiltrate in idiopathic chilblains. In patients showing signs of connective tissue disease, positive cutaneous immunofluorescence was correlated with the presence of circulating antinuclear antibodies. Two patients had an ascertained diagnosis of SLE with severe manifestations during prospective follow-up, requiring treatment with oral steroids in both cases. Chilblains following a chronic course may reveal connective tissue disease, and patients affected with chilblains associated with autoimmune abnormalities may develop severe SLE. Accordingly, long-term follow-up of these patients is warranted.
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