Lupus mastitis and antiphospholipid syndrome treated with anticoagulation and immunosuppression: a case report.

BACKGROUND: Systemic lupus erythematosus is an autoimmune disease that can have cutaneous and systemic manifestations. Lupus panniculitis, also known as lupus mastitis, is a subset of chronic cutaneous lupus erythematosus that involves inflammation of the subcutaneous fat. The pathogenesis of lupus mastitis is not fully understood. Diagnosis involves a combination of skin manifestations, imaging, and pathologic confirmation. Treatment typically includes steroids and antimalarials, with more severe disease requiring additional immunosuppressive medications. This report highlights a case of lupus mastitis treated with rituximab and a possible relationship between this disease process and thrombotic disease. CASE PRESENTATION: A 48-year-old African American female with systemic lupus erythematosus and antiphospholipid syndrome presented with new breast lesion. Mammography revealed calcifications and increased density with coarse trabecular pattern. Breast biopsy showed features of cutaneous lupus and occlusive vasculopathy. The patient was diagnosed with lupus mastitis and treated with anticoagulation, rituximab, mycophenolate mofetil, and quinacrine with resolution of her symptoms. CONCLUSION: This patient experienced improvement in her breast symptoms with combination therapy including rituximab. There are only two other cases reported in literature of patients with lupus mastitis responding to rituximab, highlighting the possible role of B cell depleting therapy for those who have contraindications to standard treatments for lupus mastitis. While the pathophysiology of lupus mastitis is thought to be immune driven, some literature suggests that associated thrombosis commonly seen may be due to a physiologic overlap similar to antiphospholipid syndrome. The possible relationship between antiphospholipid syndrome and lupus mastitis and the use of antiplatelet and anticoagulation therapy is discussed and may warrant further investigation.

A case of reactive granulomatous dermatitis associated with neonatal lupus erythematosus.

Neonatal lupus erythematosus (NLE) is an uncommon disorder affecting approximately one out of 20 000 live births in the United States. Common manifestations of NLE include cutaneous eruptions and cardiac involvement. The typical rash of NLE most closely resembles the rash of subacute cutaneous lupus erythematosus both clinically and histopathologically. We present a case of reactive granulomatous dermatitis (RGD) associated with NLE in a 3-month-old male in whom the initial histopathology and immunohistochemistry were concerning for hematologic malignancy. RGD is a unifying term used to describe cutaneous granulomatous eruptions that occur in response to a variety of stimuli, including autoimmune connective tissue diseases. Our case demonstrates the range of histopathological findings that may be present in the setting of NLE.

Collagen Vascular Diseases: A Review of Cutaneous and Systemic Lupus Erythematosus, Dermatomyositis, and Distinguishing Features in Skin of Color.

Collagen vascular diseases such as lupus erythematosus and dermatomyositis (DM) occur 2 to 3 times more often among patients with skin of color. In this article, the authors review DM and cutaneous lupus erythematosus, including acute cutaneous lupus erythematosus, subacute cutaneous lupus erythematosus, and discoid lupus erythematosus. They discuss the distinguishing features between these entities and highlight distinct presentations and management considerations in patients with skin of color to aid in prompt and correct diagnoses in this patient population.

An Asymptomatic Case of Invisible Mycosis Fungoides.

ABSTRACT: Mycosis fungoides has previously been reported in 'invisible' form, when biopsy of normal-appearing skin in the background of undifferentiated chronic pruritus demonstrated histopathologic findings of the malignancy. Asymptomatic cases have been reported more infrequently on biopsies of individual skin lesions. We present a case of invisible and asymptomatic mycosis fungoides, confirmed with immunohistochemical and T-cell receptor gene rearrangement studies, diagnosed on a re-excision specimen of an atypical melanocytic nevus. The case highlights the importance of alert examination of all tissue specimens for evidence of unrelated pathologic findings.

B-cell lymphoma-2 downregulation is a useful feature supporting a neoplastic phenotype in mature T-cell lymphomas.

Normal T cells express high levels of B-cell lymphoma-2 (BCL2) protein, and data regarding BCL2 expression status and its diagnostic utility in T-cell lymphoma are scarce. We evaluated BCL2 expression in a series of mature T-cell lymphoproliferations (TCLs) including indolent and more recently recognized entities (follicular helper T-cell [TFH] lymphomas). Sixty-six neoplastic biopsies (60 patients) representing mature nodal, extranodal, and leukemia T-cell neoplasms were collected from three institutes (2 US and 1 Japan) and were compared with reactive T cells in 8 benign tissues/blood and 9 T cell-rich B-cell proliferations. BCL2 immunostaining was performed and scored based on intensity-weighted H-score (0-300). Next-generation sequencing (NGS; 5 cases), BCL2 gene sequencing, and real-time polymerase chain reaction (PCR; 3 cases) were conducted. Association of H-score with overall survival (using proportional hazards modeling) was assessed in nonleukemic TCLs. Most TCLs showed significantly downregulated median BCL2 H-score (125, range: 18-300) with the exception of T-cell prolymphocytic leukemia and hepatosplenic T-cell lymphoma, both of which showed uniform strong retention of BCL2 as did the 8 reactive tissues (median H-score: 280; p = 0.000). Notably all TFH lymphoma CD4 neoplastic T cells, subcutaneous panniculitis-like T-cell lymphoma, CD8 adipocyte-rimming T cells, and T-cell large lymphocyte leukemia with pathogenic STAT5B and TP53 mutation showed BCL2 downregulation. No BCL2 mutations were observed by NGS or sequencing with decreased BCL2 mRNA transcripts by real-time PCR. BCL2 downregulation is pervasive among many TCLs and unrelated to any mutations. There is utility for BCL2 immunostaining in some challenging situations as discussed in this article.

Lichen Planus Pemphigoides Associated With PD-1 and PD-L1 Inhibitors: A Case Series and Review of the Literature.

ABSTRACT: Immune checkpoint inhibitors are increasingly being used in the treatment of various solid organ and hematologic malignancies. Dermatologic toxicities associated with programmed cell death protein-1 (PD-1) and programmed death ligand-1 (PD-L1) therapy have been widely reported in the literature. It is important for clinicians to be aware of these toxicities to ensure prompt recognition and treatment. Herein, we present the clinical, histopathologic, and immunofluorescence findings of 3 patients diagnosed with lichen planus pemphigoides (LPP) after treatment with anti-PD-1 inhibitors. We also reviewed the literature and summarize 7 previously reported cases of LPP associated with anti-PD-1 and anti-PD-L1 inhibitors. LPP was diagnosed at a median time of 24.4 weeks (range: 4-78 weeks) after initiation of immunotherapy. Clinical findings included papules, plaques, erosions, vesicles, and bullae on the trunk and extremities. Oral involvement was present in half the cases. Histopathologic features of immunotherapy-induced LPP included lichenoid or vacuolar interface dermatitis, the presence of eosinophils, and subepidermal bullae. Direct immunofluorescence demonstrated linear deposition of immunoglobulin G (IgG) or C3. Indirect immunofluorescence demonstrated linear IgG along basement membrane zone on monkey esophagus in 2 cases and linear IgG on the epidermal side of salt split skin in 3 cases. Serum anti-BP180 was elevated in all cases in which enzyme-linked immunosorbent assay was performed.

Pyoderma gangrenosum-like ulceration as a presenting feature of pediatric granulomatosis with polyangiitis.

BACKGROUND: Granulomatosis with polyangiitis (GPA) is an anti-neutrophilic cytoplasmic antibody-associated vasculitis affecting small to medium-sized vessels and involves most commonly the kidneys and the respiratory tract. Skin involvement can be seen in up to 50% of children with GPA and is the initial presenting symptom in 7.7%. Pyoderma gangrenosum (PG)-like ulcers are rarely described as a skin manifestation in GPA and very few cases have been reported previously in children. CASE PRESENTATION: We describe 3 new pediatric cases of GPA with PG-like ulcerations. The median age at first symptom was 15 years. Two patients had PG-like ulceration as their initial presentation; additional symptoms eventually led to the diagnosis of GPA 2-24 months later. In 1 case, proteinase 3 (PR3) was negative when first tested, but converted to positive when systemic symptoms emerged; in the other 2 cases PR3 was positive at presentation. All 3 patients had prominent facial lesions. None of the patients responded to treatment with antibiotics or medications commonly used to manage PG, including corticosteroids and cyclosporine. All patients had excellent responses to rituximab. An electronic database literature review was performed and 4 previously reported cases were identified. We assessed the clinical characteristics, serology, and response to treatment of the previously reported and our newly diagnosed cases. CONCLUSION: PG-like ulceration is a rare presentation of pediatric GPA which may precede classic systemic GPA symptoms. The predominance of facial ulcer, granulomatous and neutrophilic inflammation on skin biopsy and lack of response to PG treatments are characteristic of GPA-associated PG-like ulcers. Our review suggests that treatment with rituximab may be needed to improve the skin lesions. Recognizing that PG-like ulcerations can occur in pediatric GPA may result in timely diagnosis, appropriate treatment and improved prognosis.

Hypopigmented Macules as Manifestation of Lichen Planus and Lichen Planopilaris.

Lichen planus (LP) is an idiopathic inflammatory disease of the skin, hair, nails, and mucous membranes. Classic cutaneous LP is characterized by violaceous flat-topped papules that typically favor the extremities. LP on the scalp, otherwise known as lichen planopilaris, classically presents with scarring alopecia, perifollicular erythema and follicular prominence. Although LP pigmentosus presents primarily as hyperpigmentation, there is only one previous report of hypopigmented LP. In this report, the authors report 2 cases of LP that presented primarily as hypopigmented macules in 2 African American men. The first patient presented with hypopigmented macules on face and scalp as well as trunk and extremities. The second patient presented with hypopigmented macules on scalp with associated alopecia. Histopathological examination from both patients showed features of LP. The authors propose a new variant of LP that presents acutely as hypopigmented lesions.

Leprosy in a Midwestern Dermatology Clinic: Report of 9 Patients.

OBJECTIVE: To describe the clinical features and epidemiology of leprosy in patients evaluated in a Midwestern dermatology clinic. PATIENTS AND METHODS: We performed a retrospective review of clinical and laboratory data from patients with leprosy who were evaluated in the Department of Dermatology at Mayo Clinic in Rochester, Minnesota, from January 1, 1994, through December 31, 2017. RESULTS: Nine patients, 7 male and 2 female, were identified, ranging in age from 15 to 63 years (mean age, 38 years). Six of the 9 patients (67%) were foreign-born: 3 from Oceania (2 from Micronesia and 1 from Guam), 1 from Southeast Asia (Indonesia), and 2 from Mexico. Three patients were born in the United States. All 9 patients presented with skin lesions (granulomatous histopathologic type), and 8 had neuropathy. Leprosy was multibacillary in 8 patients and paucibacillary in 1. Two patients experienced a type 1 treatment reaction, and 5 had type 2 reactions. Three of the 9 patients had speciation by polymerase chain reaction (Mycobacterium leprae in 2 and Mycobacterium lepromatosis in 1). CONCLUSION: Despite its rarity in the United States, leprosy should be considered in the differential diagnosis when evaluating both foreign- and US-born patients with granulomatous dermatitis and peripheral neuropathy. Because M lepromatosis was not identified until 2008 and requires polymerase chain reaction for diagnosis, the incidence of this species among patients with leprosy diagnosed in earlier years is unknown.

Concurrent Metastatic Merkel Cell Carcinoma and Cutaneous Squamous Cell Carcinoma in the Same Lymph Node.

The coexistence of Merkel cell carcinoma (MCC) and squamous cell carcinoma (SCC) in the same cutaneous lesion is well known. The pathogenesis is believed to be distinct from conventional polyomavirus-related MCC, and it has a more aggressive course. Metastasis of MCC and SCC to the same lymph node is exceedingly rare with only one previously reported case in the English literature. To the best of our knowledge, this is the second case of MCC and SCC with metastasis to the same lymph node. Our case demonstrates the aggressive nature of the combined MCC and SCC in the setting of immunosuppression.

Soft Tissue Chondroma of the Eyelid.

A 54-year-old woman presented with a 2-year history of a slow-growing subcutaneous nodule of the medial right lower eyelid adjacent to the inferior canaliculus. The patient reported right-sided epiphora suggesting lacrimal outflow obstruction. The surgically excised nodule was consistent with a chondroma. A rare tumor, soft tissue chondroma, is most often seen in the extremities, but has also been observed in the head and neck region. To their knowledge, this is the first reported case of a soft tissue chondroma of the eyelid.

Clinicopathologic and immunophenotypic features of eosinophilic fasciitis and morphea profunda: A comparative study of 27 cases.

BACKGROUND: Eosinophilic fasciitis (EF) and morphea profunda (MP) are inflammatory and sclerosing disorders of the subcutis that can exhibit clinical and pathologic presentations that overlap. OBJECTIVE: To identify clinicopathologic features that can be used to distinguish EF from MP. METHODS: We performed a retrospective review of 16 patients with EF and 11 patients with MP. Hematoxylin-eosin, CD123, CD34, and Verhoeff-Van Gieson stains were evaluated on skin biopsies that included the fascia. RESULTS: EF patients were more likely than MP patients to be men (P = .047), have forearm involvement (P = .003), and have peripheral eosinophilia (P < .01). Compared with MP patients, patients with EF were more likely to have fascia that contained eosinophils (P = .003), although eosinophils were absent in 3 (19%) patients with EF. Focal absence of CD34 staining was more prominent in the fascia of EF patients (P = .04). The extent of Verhoeff-Van Gieson staining did not differ between the 2 groups. Dermal sclerosis was not detected in many cases of EF and MP (56% and 36%, respectively). LIMITATIONS: This was a retrospective study at a single institution. CONCLUSION: Although EF and MP share clinical and pathologic features, our results indicate that the presence of eosinophils in the blood and fascia and focal loss of CD34 staining might be more suggestive of EF than MP.