Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0409974 (lupus)
 22,386 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We observed 5 patients with subcutaneous panniculitis-like T-cell lymphoma (SPTCL) who were unusual, in that they also exhibited features of lupus erythematosus (LE). This observation is in keeping with a recent study that reported an increased rate of autoimmune disease, including systemic lupus erythematosus (SLE), among patients with SPTCL. In all cases, attributes indicating SPTCL included an infiltrate of lymphocytes with pleomorphic nuclei involving subcutaneous lobules exhibiting a cytotoxic T-cell (CD3/CD8/betaF1) immunophenotype. Additionally, a high proliferation rate and a monoclonal T-cell receptor-gamma gene rearrangement were observed in most cases. The manifestations of LE in these patients included a spectrum of clinical and histopathological abnormalities. Clinical manifestations of LE included, in some patients, morphologic evidence of lupus erythematosus panniculitis (LEP) with subcutaneous nodules that healed with lipoatrophy on the face. In addition, all the patients exhibited serologic and/or extracutaneous end-organ abnormalities seen in patients with SLE, with 2 patients having sufficient findings to meet American College of Rheumatology criteria for SLE. Histopathological evidence of LE included vacuolar change at the dermal-epidermal interface in 3 patients, 2 of whom also showed interstitial deposition of mucin in the reticular dermis. One of these patients also had findings of LEP in the subcutaneous lobules with clusters of CD20 B cells partially arranged within germinal centers. In 2 patients in which neither the epidermis nor dermis was available for review, histopathological features of LE included, in one patient, a few small clusters of CD123 plasmacytoid dendritic cells within the adipose tissue and, in the other patient, a positive direct immunofluorescence test (lupus band) on clinically uninvolved and lesional skin. Our study shows that some patients show overlap between SPTCL and LE. We suspect that these patients may suffer from both diseases concomitantly. Furthermore, patients with LE, particularly LEP, should be monitored for evolution into SPTCL with biopsy of any subcutaneous lesion that is not typical of LEP. Additionally, screening for cutaneous LE and SLE could be considered in patients with SPTCL.
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PMID:Subcutaneous panniculitis-like T-cell lymphoma with overlapping clinicopathologic features of lupus erythematosus: coexistence of 2 entities? 1959 Apr 24

Dermal mucinoses are a heterogeneous group of disorders characterized by abnormal deposition of dermal mucin, an amorphous substance composed of hyaluronic acid and sulfated glycosaminoglycans. We describe two cases of dermal mucinosis in the setting of chronic venous insufficiency. Both patients presented with painful, edematous lower extremity plaques. Biopsies of all lesions showed striking dermal mucin deposition, a slight increase in small blood vessel density, slightly thickened vessel walls and no inflammation. Neither patient showed laboratory or clinical findings consistent with a secondary mucinosis such as thyroid dysfunction, lupus erythematosus, dermatomyositis, scleroderma, granuloma annulare, graft-vs.-host disease or mucin deposition post-ultraviolet or photochemotherapy treatment. Both patients were diagnosed with localized cutaneous mucinosis secondary to venous insufficiency. The clinicopathological features of this entity are described, and a pathogenic mechanism is proposed.
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PMID:Dermal mucinosis as a sign of venous insufficiency. 2023 73

Background Lupus erythematosus tumidus (LET) is a rare disease which was first described in 1909 but has not always been considered as a separate entity of cutaneous lupus erythematosus (CLE) in the international literature. Objectives To compare characteristic features of different subtypes of CLE and to analyse whether LET can be distinguished as a separate entity in the classification system of the disease. Methods The study involved 44 patients with CLE, including 24 patients with LET, 12 with discoid lupus erythematosus (DLE) and eight with subacute CLE (SCLE), from two centres in Germany. A core set questionnaire and an SPSS database were designed to enable a consistent statistical analysis. Results Location of skin lesions did not differ significantly between the CLE subtypes; however, the activity score was significantly lower in LET than in DLE (P < 0.01), and the damage score was significantly lower in LET than in SCLE (P < 0.01) and DLE (P < 0.01). Photosensitivity and antinuclear antibodies were confirmed to be different in LET compared with SCLE and DLE but without statistical significance. Moreover, histological analysis of skin biopsy specimens showed that abundant mucin deposition is significantly more present in LET compared with SCLE (P < 0.01) and DLE (P < 0.01) while prominent interface dermatitis and alteration of hair follicles were absent in LET. Conclusions Several significant differences were found between LET and other subtypes of CLE with regard to clinical, histological and laboratory parameters. These data strongly indicate that LET should be defined as a separate entity in the classification of CLE.
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PMID:Lupus erythematosus tumidus is a separate subtype of cutaneous lupus erythematosus. 2040 31

A 37-year-old Caucasian woman was evaluated for a photosensitive dermatitis. A positive anti-nuclear antibody with a titer of 1 : 1280 and a speckled pattern was noted and she was diagnosed with subacute cutaneous lupus erythematosus (SCLE). Although the initial dermatologic diagnosis was SCLE, a skin biopsy suggested the additional possibility of dermatomyositis because of increased dermal mucin. We began following her at the request of the dermatology department, and a diagnosis of amyopathic dermatomyositis was made based on the lack of objective muscle weakness, normal muscle enzymes, negative double-stranded DNA, SSA/SSB, and RNP/Smith antibody panel, and especially on the cutaneous examination findings. A malignancy evaluation included a normal CT scan of her chest, abdomen, and pelvis, esophagogastroduodenoscopy, colonoscopy, mammography, pelvic ultrasound, Papanicolaou smear, and endometrial biopsy. She developed vaginal bleeding 1 year after the onset of her skin manifestations. Repeat gynecologic evaluation, including cervical biopsy, revealed a large B-cell cervical lymphoma. Amyopathic dermatomyositis and lymphoma of the cervix are both rare conditions. Our case emphasizes the importance of considering underlying malignancy at the time of diagnosis and while the patient is followed clinically. Additionally, the clinician must remain vigilant in evaluating any new clinical changes in follow-up care. To our knowledge, this is the first documented case of lymphoma of the cervix in the setting of amyopathic dermatomyositis.
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PMID:A rare lymphoma in a patient with amyopathic dermatomyositis. 2014 Dec 37

Mucin deposit is a feature that is not commonly mentioned in textbooks when talking about rosacea. Nevertheless, it is one of the prominent findings of a severe variant of the phymatous type of rosacea known as the fibrous type. We retrospectively investigated 20 cases of early stages of rosacea and examined the mucin deposit in them, with histochemical stains (Alcian Blue and Periodic Acid-Schiff). We found granulomas in 20% of these cases. Alcian Blue positive deposits of mucin were found in all cases with granulomas. The mucin was located in the granulomas (four cases) as well as in the infundibulum (one case). No deposits of mucin were evidenced in the dermis out of the granulomas, apart from the normal mucin of papillary and adventicial dermis. Periodic Acid-Schiff did not show any deposits in any case. Serologic lupus markers were negative in all patients with mucin deposits. We conclude that: (a) mucin is a common finding in granulomas of rosacea; (b) this mucin is probably not related to any progression to the mucinous variant of rhinophyma; (c) since discoid erythematosus lupus is a clinical differential of rosacea, it is important to be aware of the fact that mucin is a common finding in the granulomas, in order not to misdiagnose both entities.
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PMID:Mucin is not a rare finding in rosacea. 2019 Nov 22

Recent studies have suggested that mast cell numbers are increased in the skin of patients with cutaneous mucinosis and that these cells may have an important role in angiogenesis and production of mucin. Then, skin biopsies from 30 patients with cutaneous mucinosis (papular mucinosis, focal mucinosis, and mucinosis associated with lupus erythematosus) and from 10 healthy subjects were analyzed. Mast cells and blood vessels were immunolabeled with anti-tryptase and anti-CD34 antibodies, respectively, and then quantified stereologically. Counting was performed in papillary and reticular dermis. An increase in the number of mast cells was observed in the skin of patients with cutaneous mucinosis compared with the control group. Only minimal differences were observed in vessel stereology. There was no correlation between the increase in the number of mast cells and the number of blood vessels in the patients studied. There was no significant difference in the numbers of mast cells or blood vessels between the 3 subgroups of cutaneous mucinosis. Although many clinical forms of mucinosis have been described, neither mast cell number nor vessel distribution seems to distinguish the 3 different forms studied here.
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PMID:Quantification of mast cells and blood vessels in the skin of patients with cutaneous mucinosis. 2044 41

Twenty-one Caucasian patients (12 women and 9 men) were diagnosed as having lupus erythematosus tumidus by clinical and histopathological criteria. They were analysed by blood tests, histopathology and immunological studies and their response to treatment was recorded. While blood tests yielded non contributory results, histopathology showed in all cases a superficial and deep lymphocytic infiltrate with a perivascular and periadnexal involvement and an interstitial dermal deposition of mucin. Minimal epidermal changes were observed in 13 cases. In particular, epidermal atrophy was found in 8 specimens, hyperkeratosis in 8, parakeratosis in 2, acanthosis in 3 and spongiosis in 1. Four patients showed a slight vacuolar degeneration and periodic acid-Schiff staining showed a thickened basal membrane zone in two. Direct immunofluorescence was positive in 16 of the 19 patients tested. Antinuclear antibodies were negative in all 21 patients in indirect immunofluorescence. Antimalarials cleared the lesions within 12 weeks in 16 patients. Fourteen of them relapsed about 3 weeks after the first sun exposure, but were successfully controlled with the same treatment within a maximum of 12 weeks. Spontaneous resolution of the skin lesions was never observed. Altogether, some evidence of heterogeneity is suggested, some cases strictly satisfying Kuhn et al's criteria, others resembling discoid lupus more closely.
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PMID:Lupus erythematosus tumidus: clinical, histopathological and serological aspects and therapy response of 21 patients. 2103 Mar 40

Acral persistent papular mucinosis is a rare subtype of localized lichen myxedematosus. It shows symmetric, asymptomatic, chronic, ivory to flesh-colored, 2-5 mm sized papules arranged on the dorsa of the hands and extensor aspects of the distal forearms. Thirty-two cases including two from China, appear to fit the proposed diagnostic criteria. We report a 31-year-old Chinese woman who presented with papules on the extensor aspects of her hands and distal forearms. Histopathology revealed a circumscribed area in the upper and mid reticular dermis with splaying of collagen fibers caused by amorphous deposits. The material was mucin, as it stained positively with alcian blue at pH 2.5. The thyroid profile was normal, and there was no evidence for lupus erythematous. The lesions were treated with electrofulguration and resolved leaving mild scars; there has been no recurrence at follow-up after one year. We also review the literature on this rare form of mucinosis.
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PMID:Acral persistent papular mucinosis: a case report and literature review. 2112 68

Glycosaminoglycans (GAGs), also known histologically as dermal mucin, accumulate in several inflammatory skin conditions. Because different GAG species have distinct immunologic effects, the authors examined two GAGs, hyaluronan (HA) and chondroitin sulfate (CS), using specific stains in cutaneous lupus erythematosus (CLE) and dermatomyositis (DM). In the dermis of one CLE subtype, tumid LE (TLE), they found only increased HA, but both HA and CS were significantly elevated in another CLE subtype, discoid LE (DLE). DM lesional dermis accumulated mainly CS but not HA. The authors then used glycomic gene expression microarrays to assess the expression of HA- and CS-related genes in CLE skin. Real-time quantitative PCR confirmed significantly increased expression of HAS2, CHSY1, and C4ST1 in the combined groups of CLE lesions (n = 8) compared to healthy controls (n = 4). Thus, the increase in HA in CLE presumably results from upregulation of HAS2, whereas CHSY1 and C4ST1 appear to contribute to increased CS. Based on their known immunomodulatory effects in other systems, HA and CS may thus participate in the pathophysiology of these inflammatory skin conditions.
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PMID:Identification and molecular analysis of glycosaminoglycans in cutaneous lupus erythematosus and dermatomyositis. 2137 87

Linear chronic discoid lupus erythematosus is a rare manifestation of cutaneous lupus in which erythematous, atrophic, dyschromic lesions are located along the lines of Blaschko. This report describes the case of a 15-year old boy with a 2-year history of discoid, erythematous, hyper and hypopigmented lesions with central atrophy, situated along the lines of Blaschko on his right arm. Histopathology showed epidermal atrophy, hyperkeratosis, follicular plugging, thickening of the basement membrane zone, and superficial and deep chronic perivascular and periadnexal inflammatory infiltrate, with dermal mucin deposit, thus confirming diagnosis. A total of 14 cases have been described of this variant, the onset of which is often in childhood. There is no difference in incidence between genders. Lesions most commonly develop on the face. There have been no reports of any association with systemic disease.
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PMID:Linear chronic discoid lupus erythematosus following the lines of Blaschko. 2173 75


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