Different mutational profiles of subcutaneous panniculitis-like T-cell lymphoma and lupus panniculitis: an additional case series.

BACKGROUND AND OBJECTIVE: subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic T-cell lymphoma with indolent behavior, mostly present in women and associated with immunological diseases whose pathogenic background is still poorly understood. SPTCL is associated with lupus erythematosus panniculitis (LEP) and histologically misdiagnosed. OBJECTIVES: the aim of our study was to identify mutations affecting the pathogenesis of both SPTCL and LEP. MATERIALS AND METHODS: we studied a total of 10 SPTCL and 10 LEP patients using targeted Next Generation Sequencing and pyrosequencing. Differences in gene expression between molecular subgroups were investigated using NanoString technology. Clinical data were collected, and correlations sought with the molecular data obtained. RESULTS: the mutational profile of SPTCL and LEP is different. We identified fewer pathogenic mutations than previously reported in SPTCL, noting a single HAVCR2-mutated SPTCL case. Interestingly, 40% of our SPTCL cases showed the pathogenic TP53 (p.Pro72Arg) (P72R) variant. Although cases showing HAVCR2 mutations or the TP53 (P72R) variant had more severe symptomatic disease, none developed hemophagocytic syndrome (HPS). Furthermore, TP53 (P72R)-positive cases were characterized by a lower metabolic signaling pathway and higher levels of CD28 expression and Treg signaling genes. In addition, 30% of our cases featured the same mutation (T735C) of the epigenetic modificatory gene DNMT3A. None of the LEP cases showed mutations in any of the studied genes. CONCLUSIONS: the mutational landscape of SPTCL is broader than previously anticipated. We describe, for the first time, the involvement of the TP53 (P72R) pathogenic variant in this subgroup of tumors, consider the possible role of different genetic backgrounds in the development of SPTCL, and conclude that LEP does not follow the same pathogenic pathway as SPTCL.

Lupus erythematosus: Significance of dermatologic findings.

Herein, the different skin manifestations in patients with lupus erythematosus are reviewed, and their diagnostic, pathogenic and prognostic relevance are discussed, as well as their impact on therapeutic choices. The so-called specific lesions of LE result from an autoimmune pathomechanism and they allow diagnosis of LE by simple clinicopathological correlation since the findings are characteristic. They include the classic acute, subacute and chronic variants, characterised microscopically by interface dermatitis; the dermal variants of lupus, such as tumid lupus, displaying dermal perivascular lymphocytic infiltrate with mucin deposition under the microscope, and lupus profundus, in which lymphocytic lobular panniculitis progressing to hyaline fibrosis is found. Antimalarials are the treatment of choice for patients with specific LE lesions. The presence of some dermatological signs is the result of thrombotic vasculopathy. Their recognition allows the identification of lupus patients at increased cardiovascular risk and with a worse overall prognosis. Those signs include reticulated erythema on the tip of the toes, splinter hemorrhages, atrophie blanche, pseudo-Degos lesions, racemosa-type livedo, anetoderma, ulceration and necrosis. Those clinical manifestations, often subtle, must be recognised, and if present, patients should be treated with antiplatelet drugs. Finally, neutrophilic cutaneous lupus erythematosus includes a few entities that suggest that autoinflammatory mechanisms might play a key role in certain lupus manifestations. Among those entities, it is very important to diagnose neutrophilic urticarial dermatosis, which can mimic a classic lupus flare, because it is characterised by rash with joint pain, but immunosuppressants are not helpful. Dapsone is the treatment of choice.

Pancreatic panniculitis in active systemic lupus erythematosus.

This report documents the case of a 64-year-old African-American female with new end-stage renal disease (ESRD), diagnosed with systemic lupus erythematosus (SLE) on renal biopsy and serologies including a positive ANA (>1:2560), positive anti-Sm antibodies, low titer anti-RNP antibodies, high titer anti-Ro antibodies, anti-dsDNA antibodies, lupus anticoagulant, and hypocomplementemia. She was also noted to have tender nodules on the bilateral shins. Excisional biopsy of one of the nodules showed marked fat necrosis with "ghost cells" and patchy basophilic granular debris consistent with pancreatic panniculitis. Further examination for pancreatic pathology showed an elevated lipase of 585 U/L (reference range 8-78 U/L) and amylase of 214 U/L (reference range 25-125 U/L). However, computed tomography imaging showed no evidence of pancreatitis or pancreatic tumors. This is very similar to another case recently reported in the literature. Similarities of these two cases (African-American females with lupus nephritis on dialysis) may represent a particular subset of SLE patients at increased risk for pancreatic panniculitis.

[Clinical Comparative Analysis of Lupus Panniculitis and Subcutaneous Panniculitis-like T-cell Lymphoma].

OBJECTIVE: To explore the similarities and differences in clinical pathological features and gene rearrangement of lupus erythematosus profundus(LEP) and subcutaneous panniculitis-like T-cell lymphoma(SPTL). METHODS: We compared the clinical presentations, histopathology, immunophenotypical features and T-cell receptor (TCR) gene rearrangement findings of 9 cases of LEP and SPTL. RESULTS: For clinical features, most patients of LEP occurred on head and face without systemic symptoms. LEP patients responded well to hydroxycholorquine treatment with good prognosis. Most patients of SPTL tended to lower extremities involvement and accompanied with systemic symptoms, the patients with disseminated lesions or hemophagocytic syndrome(HPS) showed poorer prognosis. For histopathology, LEP patients showed dense inflammatory infiltrate in the dermis consisting predominantly of lymphocytes with less numbers of plasma cells. However, the dermis was spared in SPTL, and rimming of adipocytes and erythrophagocytosis was observed in SPTL. Lymphocytes of LEP expressing CD4+/CD8+, as well as clusters of CD20+. CD138-positive cells and scatter of CD123-positive cells were also observed in LEP. Tumor cells of SPTL were CD4-/CD8+, ßF1+, CD138- and CD123-. The expression of TIA-1 or GrB was more favor in SPTL. Monoclonal T-cell receptor-γ gene rearrangement was found in 89% of SPTL patients while negative for LEP. CONCLUSION: Base on different clinical and pathological features, it is easy to distinguish LEP from SPTL. However, a minority of lesions in LEP localize at subcutaneous tissue, which may turn to immunophenotypical and TCR gene rearrangement test for diagnosis.

Bilateral ptosis as first presentation of cytophagic histiocytic panniculitis: a case report.

BACKGROUND: Cytophagic histiocytic panniculitis (CHP) is a rare form of nodular panniculitis that may progress to panniculitis-like T-cell lymphoma. We report a case of CHP that first manifested as bilateral ptosis, which is the first reported case of this presentation. CASE PRESENTATION: A 25-year-old woman without medical history was referred to the neurology department of our hospital for evaluation of bilateral ptosis. Three months previously, she suddenly complained of bilateral ptosis without apparent cause. Simultaneously, non-painful tender subcutaneous nodules and eschar-like skin lesions were observed on her extremities and trunk. A diagnosis of CHP was made based on skin biopsy from the left thigh showing lobular panniculitis, vasculitis, and adiponecrosis, with infiltration of inflammatory cells, including lymphocytes, histiocytes, and phagocytic histiocytes. Her condition continued to worsen with corticosteroid and immunosuppressive agent (thalidomide) treatment. Significant improvement was noticed after three cycles of chemotherapy of THP-COP (pirarubicin, cyclophosphamide, vincristine, and prednisolone). CONCLUSIONS: CHP is a rare condition whose clinical presentation may include bilateral ptosis and biopsy is required for diagnosis of CHP.

Cutaneous lymphomas with a panniculitic presentation.

Subcutaneous panniculitis-like T-cell lymphoma and primary cutaneous gamma/delta T-cell lymphoma are the two most common types of cutaneous T-cell lymphoma presenting with panniculitis-like lesions. In this article the characteristic clinical, histological and immunophenotypical features of these conditions are reviewed and criteria to differentiate these tumors from other benign and malignant lymphoproliferations presenting with panniculitis-like lesions are discussed.

Case report on a patient with lupus panniculitis.

Lupus panniculitis is a rare variant of lupus erythematosus. It may occur as a separate disease or coexist with systemic or discoid lupus erythematosus. It is characterized by persistent, tender and hard nodules localised on the face, arms, shoulders, breast and buttocks. Healing of lesions is associated with scarring, lipoatrophy and rarely ulceration. Treatment of lupus panniculitis depends on disease advancement or concomitance of additional lupus erythematosus symptoms. We report a case of a 44-year-old patient with lupus panniculitis treated with chloroquine and glucocorticosteroids, including high dose infusions. Despite intense treatment, the patient developed symptoms that suggested a diagnosis of systemic lupus erythematosus.

Linear and Annular Lupus Panniculitis of the Scalp with Annular Lupus Panniculitis of the Face in a Child.

Linear and annular lupus panniculitis of the scalp is a rare form of lupus panniculitis recently reported in literature. It presents as linear or annular or arciform areas of nonscarring alopecia of the scalp with minimal surface changes. We report a 4-year-old Indian female child with arciform erythematous plaque over the forehead extending on the scalp with nonscarring alopecia with annular erythematous plaque over the cheek. Histology showed lobular lymphocytic panniculitis with abundant mucin deposition. Antinuclear antibody and systemic screen for lupus were negative. After treatment with oral corticosteroids, complete remission was achieved with good regrowth of scalp hair with no relapse during the follow-up period of 6 months. This is the youngest reported case of linear and annular lupus panniculitis of the scalp.

Lupus panniculitis: a rare bilateral and symmetrical manifestation of cutaneous lupus erythematosus in an adolescent girl.

Lupus panniculitis is included in the chronic cutaneous lupus erythematosus group. An 18-year-old female patient came with the complaint of lumps on her face. When she was 16 years old, the patient started to complain about lumps on her right lower arm. Lumps were observed on her left cheek and right chin during the ongoing treatment. Histopathology results showed lymphocyte infiltration in between lobular adipocyte with fibrotic and fat necrosis in the subcutis. Lupus panniculitis lesions in this patient were found both on her face and on her lower arms, which are not considered common predilection sites of lupus panniculitis. The skin lesion observed in this patient was also bilateral and symmetrical, which was a rare finding.

Subcutaneous Panniculitis-like T-cell Lymphoma with a HAVCR2 Mutation Diagnosed after 10 Years of Treatment with Glucocorticoids and Cyclosporine as Lupus Panniculitis.

Subcutaneous panniculitis-like T cell lymphoma (SPTCL) is a very rare cutaneous T cell lymphoma that has been reported to be associated with autoimmune disorders but is most commonly associated with systemic lupus erythematosus. We herein report a 26-year-old man thought to have lupus panniculitis (LP) treated for 10 years with corticosteroids and cyclosporine. After several relapses with panniculitis, he was finally diagnosed with SPTCL, which was confirmed to have a HAVCR2 mutation for p.Tyr82Cys. We emphasize that rheumatologists should be aware of the possibility of SPTCL, despite its rare appearance, when making a diagnosis of LP or when encountering clinical manifestations that are not consistent with LP.

Rare and First Manifestation of Lupus Panniculitis as Lupus Mastitis: A Case Report and Literature Review.

INTRODUCTION: This case report presents a rare occurrence of lupus mastitis affecting the breast. CASE PRESENTATION: An induration with mild discomfort was detected in the upper inner quadrant of the right breast of a 27-year-old Chinese woman with regular menstrual cycles. The patient is currently unmarried and has no previous history of full-term pregnancies or lactation. An ill-defined, subcutaneous, hyperechoic lesion with no calcification was visualized on breast ultrasound. Peripheral and internal blood flow signals demonstrated high intensity. Pathological analysis of a breast needle biopsy revealed fat lobule necrosis accompanied by mixed lymphoplasmacytic and histiocytic aggregates. CONCLUSION: The diagnosis of lupus mastitis necessitates a comprehensive evaluation of the patient's medical history, serological testing, imaging studies, and histopathological analysis.

Scleroderma-Like Lupus Panniculitis: A Case Report and Literature Review.

Sclerodermic or scleroderma-like lupus erythematosus panniculitis (SLEP) shares both clinical and histopathological features between lupus panniculitis and localized scleroderma. It is exceedingly rare. We herein report a case of SLEP manifested with a solitary, firm-to-hard, erythematous plaque in an Asian woman. This patient responded well to intralesional corticosteroid and antimalarials. We have reviewed the pathogenesis of fibrosis in patients with chronic cutaneous lupus erythematosus as well as documented cases of SLEP in the literature.

Autologous Fat Transfer in Lupus Panniculitis Facial Lipoatrophy.

Lupus panniculitis (LP) often presents with tender nodules and intermittent ulcers that then heal with scarring and lipoatrophy. The current mainstay of treatment is medical treatment. Research regarding the treatment of lipoatrophy from LP with autologous fat grafting is limited. We would like to share our experience in this rare case, which was treated with autologous fat transfer. A 48-year-old female presented with erythematous plaque, tender nodules, and ulcers following by a depression of the lesion at the left temporal area. The patient also had indurated erythematous plaque at her left cheek. Both lesions were aggravated by sunlight exposure. After several investigations, she was diagnosed as LP with secondary lipoatrophy and tumid lupus erythematosus at her left temporal and left cheek, respectively. She received antimalarial drug and topical steroids. The patient underwent two sessions of autologous fat transfer. She was satisfied with the volume and contour improvement in the scar following the injection of 8 and 3.7 mL of fat. Furthermore, the patient reported the remission of tender nodules and ulcers since the first fat graft injection. In conclusion, the autologous fat transfer is a simple and effective treatment for lipoatrophy and scar secondary to LP with promising results.

A rare case of suspected lupus erythematous panniculitis as the presenting skin feature of juvenile dermatomyositis: A case report.

Juvenile dermatomyositis is a rare autoimmune myopathy of childhood, associated with systemic vasculopathy, primarily affecting the capillaries. Panniculitis is seen histologically in about 10% of patients with dermatomyositis; however, its clinical presentation is rare, with only 30 cases presented in the literature to date. The histopathology overlaps with other inflammatory disease states, and is almost identical to the panniculitis seen in lupus erythematous panniculitis. In the cases with both panniculitis and dermatomyositis, skin and muscle inflammation is usually the first clinical manifestation. We present a case of a 16-year-old female with panniculitis as the initial presenting feature of juvenile dermatomyositis in the context of a prior diagnosis of indeterminate colitis.

Chronic Cutaneous Lupus Erythematosus in a White Population: Dermoscopic Characteristics by Clinical Subtype, Lesion Location and Disease Duration.

INTRODUCTION: Chronic cutaneous lupus erythematosus (CCLE) comprises three major clinical variants: discoid lupus erythematosus (DLE), chilblain lupus erythematosus (CHLE), and lupus erythematosus profundus, also referred to as lupus erythematosus panniculitis (LEP). The aim of the current study was to systematically describe the dermoscopic features of CCLE in Polish patients with Fitzpatrick skin phototypes I-III. METHODS: The videodermoscopic images from patients with various clinical variants of CCLE (DLE, CHLE and LEP) were reviewed. Predefined parameters for dermoscopic evaluation in general dermatology were used to describe the findings in lesions located beyond the scalp. In the analysis of trichoscopic findings in lesions located on the scalp, dermoscopic features of follicular openings, hair shafts, the perifollicular surface, the interfollicular surface and vessel morphology were considered. Based on personal experience, several additional dermoscopic and trichoscopic characteristics were included in the analysis. RESULTS: A total of 85 lesions from 26 patients (16 women and 10 men; mean age 40.8 ± 11.2 years) were assessed. DLE on glabrous skin showed polymorphous vessels (89.1%), pink-red background (70.9%), follicular plugs (67.3%) and white scaling (58.2%), while scalp DLE was characterized by polymorphous vessels (83.3%), yellow dots (66.7%), follicular plugs (55.6%) and a reduced number of follicles (55.6%). Labial DLE (n = 2) showed linear branched and linear curved vessels, white structureless areas, red structureless (hemorrhagic) areas and red dots/globules. White scaling (61.1% vs. 34.1%; p = 0.042), gray-brown dots/globules (44.4% vs. 12.2%; p = 0.015) and peripheral pigmentation (100.0% vs. 46.2%; p = 0.036) were significantly more common in long-lasting (> 1 year) DLE lesions. CHLE (n = 5) presented with polymorphous vessels, white scales, pink-red background, red structureless areas and red dots/globules. LEP showed polymorphous vessels, white-yellow scales, follicular plugs, white structureless areas and red hemorrhagic areas. CONCLUSIONS: Dermoscopy might be useful in the preliminary diagnosis of DLE, and its role in the diagnosis of CHLE and LEP needs further elucidation.

Rituximab Used for the Treatment of Nonuremic Calciphylaxis: A Complication of Prolonged Steroid Use in Lupus Nephritis.

Nonuremic calciphylaxis (NUC) is a rare and debilitating form of panniculitis. NUC is associated with a high mortality rate within the first year of diagnosis. Connective tissue diseases account for a small fraction of the reported cases. However, there have also been reported cases of patients developing NUC while on treatment with chronic corticosteroid immunosuppressive therapy. The pathophysiology of NUC is still not fully established. Several risk factors including underlying diseases, obesity, female gender, and medications have been associated with the development of NUC. The diagnosis remains challenging due to the condition's similarities with other forms of panniculitis. The gold standard for diagnosis is a tissue biopsy showing calcifications within the medial layer of arterioles and the presence of microthrombi with surrounding necrosis. The treatment for NUC has not advanced much in recent years and focuses on the management of the underlying condition, wound care, and treating any superimposed infection. Treating superimposed infections remains important as most of the associated mortality from NUC occurs due to sepsis. We describe a case of a young woman with lupus nephritis who developed NUC while on prolonged corticosteroid therapy. She did not respond to several immunosuppressive agents and was ultimately treated with rituximab, a monoclonal antibody against CD20 antigen, as salvage therapy.

Sustained Remission of Lupus Panniculitis Treated With Hydroxychloroquine in a Patient With Crohn's Disease: A Case Report.

Extraintestinal manifestations (EIM) in inflammatory bowel disease (IBD) are common including cutaneous manifestations that either precede or follow manifestations of IBD. Cutaneous manifestations of IBD include erythema nodosum, pyoderma gangrenosum, oral lesions, and Sweet's syndrome. Cutaneous manifestations of IBD tend to recur and extensive cases may require maintenance management with immunomodulators or biologics. However, the complications and adverse effects of long-term therapy with immunosuppressive agents are numerous and need to be considered before their initiation. We report a case of a Crohn's disease patient with recurrent and debilitating cutaneous manifestation of lupus panniculitis that had sustained remission with hydroxychloroquine.

Linear and Annular Lupus Panniculitis of the Scalp: Case Report with Emphasis on Trichoscopic Findings and Review of the Literature.

Linear and annular lupus panniculitis of the scalp (LALPS) is a unique subset of lupus panniculitis, which results in non-scarring alopecia along the Blaschko line of the scalp in an otherwise healthy young patient. Numerous cases have been reported around the world, but data on their trichoscopic findings and correlations with the underlying pathology is sparse. We hereby present a case of 23-year-old male with LALPS and further describe his trichoscopic findings as well as their correlations with histopathological features.

Panniculitides of particular interest to the rheumatologist.

The panniculitides remain as one of the most challenging areas for clinicians, as they comprise a heterogeneous group of inflammatory diseases involving the subcutaneous fat with potentially-shared clinical and histopathological features. Clinically, most panniculitides present as red edematous nodules or plaques. Therefore, in addition to a detailed clinical history, a large scalpel biopsy of a recent-stage lesion with adequate representation of the subcutaneous tissue is essential to specific diagnosis and appropriate clinical management. Herein we review the panniculitides of particular interest to the rheumatologist.