Familial discoid lupus erythematosus associated with heterozygote c2 deficiency

Belin, Daniel C.; Bordwell, Bonnie J.; Einarson, Mindy; McLean, Robert H.; Weinstein, Arthur; Yunis, Edmond J.; Rothfield, Naomi F.

doi:10.1002/art.1780230804

Cited by 13 publications

(5 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Familial discoid lupus erythematosus among siblings have been reported in the literature. 8,9 Inducing factors UV exposure, viral infection, drugs and smoking reported as inducing factors of LE were observed in our patients and was in concordance with the literature. 10,11 Smoking was observed in 8 out of 10 male patients (80%) in the study group.…”

Section: Familial Incidencesupporting

confidence: 92%

“…The localized type (n=30) was found to be more common than disseminated type (n=21) ( Figure 1). Localized disease was classified based on the total number of lesions, as mild (<5), moderate (5)(6)(7)(8)(9)(10) and severe (>10). Mild localized disease was recorded in 66% (n= 20), moderate form in 33% (n=10) and none had severe form of localized disease.…”

Section: Clinical Type Of Dlementioning

confidence: 99%

See 1 more Smart Citation

A clinical and epidemiological study on discoid lupus erythematosus

et al. 2018

View full text Add to dashboard Cite

Background: Discoid lupus erythematosus (DLE) is the commonest form of cutaneous lupus erythematosus.The objective of our study is to analyze the clinical and epidemiological aspects of DLE.Methods: All clinically diagnosed cases of DLE attending the dermatology OPD from October 2010 to September 2012were included in the study. A detailed history, complete physical examination, biopsy for confirmation and other relevant investigations were done in all cases.Results: The incidence was 4.79 per 10000 cases (51 of 106368 dermatology patients) showing female to male ratio of 4.1:1. Localized type was more common than the disseminated type. Few lesions (less than five) in a localized area without head and neck involvement were also classified as localized type in this study. Mucosal, verrucous, tumid and lupus panniculitis were the variants of DLE encountered. The sites involved were face, scalp, trunk, upper and lower limb in descending order of frequency. Antinuclear antibody (ANA) was positive in 22 of 30 cases done (73%). The systemic involvement was seen in 15 patients all of whom were diagnosed as systemic lupus erythematosus (SLE). Squamous cell carcinoma was seen in 2 cases of disseminated DLE.Conclusions: Majority of patients had disease onset at 3rd to 5th decade showing female predominance. When compared to localized type, disseminated type was found more frequently in males. Early onset and severe disease was noted among offspring born to a patient suffering from disseminated DLE. Serious morbidity like lupus nephritis was observed only in 1 case. The occurrence of DLE over the herpes zoster scar was an interesting observation.

show abstract

Section: Familial Incidencesupporting

confidence: 92%

Section: Clinical Type Of Dlementioning

confidence: 99%

A clinical and epidemiological study on discoid lupus erythematosus

et al. 2018

View full text Add to dashboard Cite

show abstract

“…The clinical appearance of the erythematous papules on the face and upper trunk and the induction of the lesions by sun exposure resembles lupus erythematosus, especially the tumidus [7]and familial discoid forms [8], and polymorphic light eruption. In contrast to these entities, Jessner’s lymphocytic infiltration of the skin presents clinically with asymptomatic and nonscarring lesions and histologically with dermal infiltrates rather than with cytotoxic involvement of the epidermis such as interface dermatitis and hydropic degeneration [9]and interstitial mucin deposition [7].…”

Section: Discussionmentioning

confidence: 99%

Familial Lymphocytic Infiltration of the Skin: Histochemical and Molecular Analysis in Three Brothers

Dippel

Poenitz²,

Klemke³

et al. 2002

Dermatology

View full text Add to dashboard Cite

Background: Lymphocytic infiltration of the skin (Jessner and Kanof) is a T cell pseudolymphoma characterized by the occurrence of recurrent asymptomatic papules and plaques and by a coat-sleeve-like perivascular lymphoid infiltrate. Rarely, familial cases have been reported. Objectives: Our study was performed to address the question of a genetic predisposition in a case of familial lymphocytic infiltration by histochemical and molecular analysis. Results: We report on 3 brothers with typical clinical and histological features of Jessner’s lymphocytic infiltration of the skin. Immunohistochemical analysis revealed a mixed lymphocytic infiltrate with a predominance of CD8+ T cells in all 3 patients. Molecular determination of T cell clonality by PCR-based GeneScan analysis of the T cell receptor (TCR)-γ-chain showed oligoclonal, pseudomonoclonal or polyclonal TCR-γ rearrangement patterns in lesional skin and in peripheral blood of all 3 brothers, while no common TCR idiotype was detected. Conclusion: Inherited deviations in TCR usage seem unlikely as a special cause of familial Jessner’s lymphocytic infiltration of the skin; lack of clonality furthermore supports the notion that this variant of the disease is as true a pseudo-T-cell lymphoma as are the spontaneous cases.

show abstract

“…[14][15][16] The differential diagnosis of a familial erythematous infiltrative facial rash includes discoid lupus erythematosus, polymorphic light eruption and familial annular erythema. [17][18][19][20] We now describe two sisters, one with clinical and histological features suggestive of Jessner's lymphocytic infiltrate (infiltrated plaques of the face and trunk, dermal perivascular lymphocytic infiltration with a normal epidermis and negative immunofluorescent findings) and the other of discoid lupus erythematosus (facial plaques with scale and plugging, photosensitivity and classical histological features). Further, the presence of the HLA B8 haplotype in both sisters is consistent with lupus.…”

Section: Discussionmentioning

confidence: 99%