Sweet syndrome: vasculitis or not?
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Biomedical subjects
Publications and source records attributed to W Burgdorf.
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OBJECTIVE: To study the validity and feasibility of transferring images of cutaneous biopsy specimens via e-mail to remote physicians active in dermatopathology for teleconsultation. DESIGN: Twenty skin specimens previously diagnosed at the Department of Dermatology, University of Graz, Austria, were subsequently sent for teleconsultation using the store-and-forward method. For each case, 3 or 4 images at different magnifications were sent by e-mail to 16 colleagues (11 dermatopathologists and 5 pathologists) in 15 centers in 6 different countries. Six weeks later each observer received the hematoxylin-eosin-stained specimens to render a conventional diagnosis. SETTING: Dermatopathology and pathology units within institutional and private settings. MATERIAL: Twenty small skin biopsy specimens of cutaneous diseases were selected randomly from a study set of 80. MAIN OUTCOME MEASURE: Concordance between telepathologic diagnoses and conventional histopathologic diagnoses of 20 skin specimens. RESULTS: On average, 78% of the telediagnoses were correct (range, 60%-95%), whereas 85% of the conventional diagnoses were correct (range, 60%-95%). A perfect diagnostic concordance was obtained in 7 (35%) of 20 cases, and a significant difference was identified in only 1 case. CONCLUSIONS: Results suggest that telepathology performed by physicians active in dermatopathology may serve as a reliable technique for the diagnosis of cutaneous diseases when experts in dermatopathology are not available locally. Furthermore, teledermatopathology is attractive because it provides an opportunity to obtain timely consultation on difficult cases.
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Muir-Torre syndrome is a genodermatosis in which multiple internal malignancies are associated with cutaneous sebaceous tumours and kerato-acanthomas. A 57-year-old man presented with multiple sebaceous tumours, kerato-acanthomas, verrucous carcinoma of the nose, renal cell and transitional cell carcinomas of the left kidney, adenoma of the colon and a positive family history of colon carcinoma. He was treated with interferon (IFN-alpha2a) s.c. 3 x 10(6) U three times a week along with 50 mg isotretinoin daily as well as topical isotretinoin gel. During a follow-up of 29 months, only 1 sebaceous skin tumour developed and was removed, whereas more than 30 such skin tumours had been surgically removed during the last 3 years. No evidence of internal tumour development or recurrence was found. The combination of IFN with retinoids seems to be of promise to prevent tumour development in Muir-Torre syndrome.
Cystic sebaceous tumors (CST) are well-circumscribed, large, deeply located dermal sebaceous proliferations with a cystic growth pattern. We identified 12 CST in 8 of 19 patients with Muir-Torre syndrome (MTS). We interpret CST as a tumor spectrum with clearly benign cystic sebaceous adenomas at one end and proliferative atypical cystic sebaceous tumors at the other. When examining these proliferative atypical tumors on morphologic criteria alone, the possibility of an evolving cystic sebaceous carcinoma cannot be excluded. We have not observed recurrences or metastases, indicating that these lesions are not highly malignant carcinomas. In 10 of 12 cases of CST, we examined microsatellite instability (MSI). All 10 examined examples of CST from patients with MTS showed MSI characteristic for hereditary nonpolyposis colorectal cancer (HNPCC), which is caused by autosomal dominant inherited DNA mismatch repair (MMR) defects. Mutational analysis of the MMR genes hMSH2 and hMLH1 had revealed different germline mutations in the hMSH2 gene in three of six examined patients with MTS with CST. We then found four more CST in patients without a history of internal malignancy. All four CST exhibited MSI. By mutational analysis in one of these patients we identified a truncating germline mutation in the MMR gene hMLH1. We conclude that CST is a marker for the mismatch repair-deficient subtype of MTS with a high risk for later internal malignancies. By recognizing CST, the histopathologist can suggest the great likelihood of MTS to the clinician.
While leprosy is usually a chronic disease, leprosy reactions may lead to acute problems. These reactions most often occur after initiation of therapy, but can also develop before treatment. Leprosy rarely presents with a reaction. We describe a German patient who presented in this unusual way in order to demonstrate the various tools used to confirm the diagnosis. A young German woman suddenly developed progressive functional loss of the left hand and within a few weeks an increasing number of erythematous macules and nodules appeared. Histological examination of a skin biopsy revealed tuberculoid granulomas, some located around small nerves; acid-fast bacilli were detected microscopically and DNA from Mycobacterium leprae was identified by polymerase chain reaction in the biopsy and a nasal swab; serological tests were positive. The disease was classified as borderline lepromatous leprosy. The acute neuritis followed by skin lesions represented a leprosy type 1 reaction in which the immune system reacts to bacilli previously unrecognized in nerve tissue, both in nerve and skin.
A 78-year-old man is described, who over 18 years developed three different types of keratoacanthoma: multiple keratoacanthomas, keratoacanthoma centrifugum marginatum and giant keratoacanthoma. Histological examination of the different neoplasms showed similar changes, all typical of a keratoacanthoma. In situ hybridisation revealed no human papilloma virus in the tumours. Complete examination showed no associated internal malignancy. After repeated surgical treatment oral isotretinoin treatment was administered (1 mg/kg per day). This treatment produced clearing of existing keratoacanthomas and, during a period of 2 months, further keratoacanthoma formation was completely suppressed. Treatment was stopped after 3 months by the patient because of side-effects. Numerous keratoacanthomas developed during the following 6 weeks.
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Pyoderma gangrenosum is a necrotizing, ulcerative process commonly associated with inflammatory bowel disease but also occurring in several other systemic illnesses. When associated with myelodysplastic syndromes, its clinical appearance is often atypical. We describe a patient with severe, refractory bullous pyoderma gangrenosum. At autopsy cardiac involvement was demonstrated, a finding not previously reported. Patients with this unusual variant of pyoderma gangrenosum have a grave prognosis.
BACKGROUND: Indeterminate cell proliferations are rarely described in the literature. We present a case of a patient who presented at birth with a solitary lesion that spontaneously regressed. OBSERVATIONS: Five cases of indeterminate cell proliferations have been described in the literature. Their clinical patterns display some common features including adult onset, usually with multiple lesions and a relatively benign clinical course. This patient presented at birth with a single lesion and spontaneous regression, as one would expect with congenital self-healing reticulohistiocytosis. Biopsy confirmed a dermal histiocytic nodule that was predominantly CD1 and S100 positive. Unlike patients with congenital self-healing reticulohistiocytosis, however, electron microscopy failed to demonstrate Birbeck granules. CONCLUSION: Indeterminate cell proliferations are a distinct entity. This presentation expands the range of clinical manifestations reported. It also suggests a close relationship between indeterminate cells and Langerhans cells.
POEMS (polyneuropathy, organomegaly [hepatosplenomegaly or lymphadenopathy], endocrinopathy, M protein, and skin changes) syndrome is an uncommon plasma cell dyscrasia with diverse manifestations, including lymphadenopathy as well as those that comprise the acronym. Dermatologic changes may include hyperpigmentation, thickened skin, hypertrichosis, and papular angiomas. These changes are believed to result from humoral products of the plasma cell clone and frequently resolve with treatment of the neoplasm. We describe a man with typical POEMS syndrome with a unique skin lesion: a large, sharply circumscribed, pigmented plaque on the anterior chest wall centered over a plasmacytoma of the sternum. Results of histologic examination showed a proliferation of capillaries of varying size, enlarged fibroblasts, and increased amounts of collagen and proteoglycan from the dermis to the periosteum. Because the outer cortex of the sternum was eroded, peptide mediators of vascular and fibroblast proliferation may have diffused directly from the plasma cell lesion into the tissues of the chest wall.
A variety of neoplastic disorders have been described in patients with AIDS. Kaposi's sarcoma is the most common neoplasm and is recognized as one of the diagnostic criteria for AIDS. Unusual mucocutaneous carcinomas have also been reported in these patients, as have a variety of lymphoid neoplasms, including Hodgkin's and non-Hodgkin's lymphomas (NHLs). The NHLs that occur in AIDS patients are usually of B-cell or non-B, non-T-cell phenotype. In contrast, T-cell lymphomas have only rarely been reported in this patient population. We present the clinical, morphologic, and immunologic features of an atypical, cutaneous lymphoproliferative disorder resembling mycosis fungoides that developed in a 28-year-old homosexual man with AIDS and disseminated mucocutaneous Kaposi's sarcoma.
Nodular subepidermal fibrosis (NSF) is a clinical entity, the histogenetic origins of which remain unclear. More than 200 such lesions were examined with light microscopy and subdivided into four types based on their relative degree of cellularity. Five examples of each subtype were stained for lysozyme with the peroxidase-antiperoxidase technique. None of the 20 lesions contained cells with lysozyme. We conclude that the basic cell type in NSF is not lysozyme-containing macrophage; it is a different cell, perhaps one of mesenchymal origin.
A 57-year-old man with lupus erythematosus (LE) had mucous membrane involvement that included the oral and perianal mucosa. Microscopic findings of the oral and perianal mucous membrane lesions were not diagnostic of LE, but immunofluorescent microscopy of biopsy specimens of the lip and perianal mucosa showed the lupus band.
Crohn's disease is a chronic inflammatory bowel disease which may have distinctive mucocutaneous manifestations. Included in this group are perianal, peristomal, and perifistular ulceration, as well as granulomatous cutaneous inflammation separate from gastrointestinal tract openings (metastatic Crohn's disease). In the oral cavity, both ulcerations and granulomatous nodules may occur. Malabsorption of nutrients may lead to several changes, including an acrodermatitis enteropathica-like syndrome secondary to zinc deficiency. Patients with Crohn's disease may also have pyoderma gangrenosum, erythema nodosum, cutaneous vasculitis, and other less specific changes.
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Lennert's lymphoma is a fairly distinct clinicopathologic entity that may rarely involve the skin. Patients tend to be elderly women with prominent cervical adenopathy; they often have a rapidly fatal disease course. We describe here an 85-year-old woman with lymphadenopathy and erythematous cutaneous nodules who had malignant lymphohistiocytic infiltrates in both her skin and lymph nodes, with a high concentration of epithelioid histiocytes in the latter.