Clinical characterization and long-term follow-up of Schnitzler syndrome.

BACKGROUND: Schnitzler syndrome (SchS) is an acquired autoinflammatory disease characterized by chronic urticarial rash in association with monoclonal gammopathy. Patients may progress to lymphoproliferative disorders, but the associated factors and exact risk of progression are still not well defined. AIM: To characterize the clinical findings, laboratory abnormalities and histopathology of patients with SchS and their respective outcomes. METHODS: We retrospectively reviewed the clinical files and the histological specimens of patients with SchS diagnosed from 1988 to 2015. RESULTS: Nine patients (two women, seven men) were diagnosed with SchS. Mean age at diagnosis was 61.1 years (range 29-80), with a mean time to diagnosis of 3.7 years and a mean follow-up period of 10.1 years (range 3-25). Four patients displayed an association of fever and arthralgia, and all nine patients consistently showed laboratory markers of inflammation. Serum values of the monoclonal component, IgMκ in eight patients and IgGλ in one patient, progressively increased over time. During follow-up, carried out in association with the haematology department five patients progressed to lymphoproliferative disease, namely, lymphoplasmacytic lymphoma/Waldenström's macroglobulinaemia (n = 4) and diffuse large B-cell lymphoma (n = 1). CONCLUSIONS: SchS is a rare chronic inflammatory disease with a substantial impact on quality of life. Our study highlights the importance of lifelong follow-up for individuals with SchS, owing to the risk of progression to a lymphoproliferative disorder.

Fibroblastic rheumatism - case report.

Fibroblastic rheumatism is a rare fibro-proliferative disease, of unknown etiology. It is characterized by sudden onset of symmetric inflammatory polyarthritis simultaneously or preceded by multiple cutaneous nodules, ranging from 5 to 20mm in diameter, with predilection for the upper and lower extremities. With only a few dozens of cases described, it has a worldwide distribution, affecting primarily caucasians of all ages (cases described ranging 8 to 68 years), without gender predilection. The authors describe the case of a patient presenting multiple cutaneous nodules located on the back of the hands, without any articular or sistemyc complaints. Correlation between clinical and histopathological aspects led to the diagnosis and treatment, with a favorable outcome.

Multiple glomus tumors and segmental neurofibromatosis: there are no coincidences.

Segmental neurofibromatosis is a rare subtype of neurofibromatosis type 1 (NF1). Glomus tumors are uncommon benign tumors. The authors report the association between these two rare conditions, not yet reported.

Langerhans cell histiocytosis in an adult: good response of cutaneous lesions to acitretin.

A 57-year-old man presented with a 2-year history of bilateral erosive lesions on the inguinal region, and erythematous, brown and crusted papules over the trunk. Histological examination of one lesion in conjunction with immunohistochemical study and electron microscopy led to the diagnosis of Langerhans' cell histiocytosis. After a thorough examination, the only associated findings were retroperitoneal fibrosis and hypergonadotrophic hypogonadism with a granulomatous testicular infiltrate. The patient was treated with oral acitretin for 1 year (with a topical corticosteroid for the inguinal lesions), resulting in clearing of the cutaneous lesions. He underwent placement of bilateral double-J ureteral catheters and was started on hormone replacement therapy. At follow-up 1 year after treatment with acitretin ceased, the patient remained free of cutaneous lesions and his overall condition, including the retroperitoneal fibrosis, had improved. This case had an uncommon combination of features, with a good response to acitretin.

Cutaneous sarcoidosis: a histopathological study.

BACKGROUND: Sarcoidosis is a granulomatous disease of uncertain aetiology in which the skin is frequently involved. Naked sarcoidal granulomas are the characteristic histological feature in specific lesions of sarcoidosis. OBJECTIVE: This study aims to describe the histological findings in a population of patients with cutaneous sarcoidosis. MATERIALS AND METHODS: This study is a retrospective analysis of 31 biopsies of specific lesions of cutaneous sarcoidosis, corresponding to 30 patients. RESULTS: Typical naked granuloma was found in the majority of cases (71%). In 9 cases (29%), granulomas had a significant number of lymphocytes. Necrosis was found in two cases (6%). Periadnexal distribution (mostly perisudoral) was found in 32% of cases. Interstitial distribution of granulomas was observed in five cases (16%). Foreign material was detected in 13% of cases (without the use of polarized light microscopy). Epidermal changes were found in 55% of cases, with atrophy and parakeratosis being the most frequent alterations. CONCLUSIONS: Although typical naked sarcoid granulomas are the most common features of cutaneous sarcoidosis, the dermatopathologist must be aware of possible atypical findings, which are more common than previously expected, because of the differential diagnosis with other causes of cutaneous granulomas, namely infectious diseases.

Linfangioma circunscrito neviforme / Lymphangioma circumscriptum neviforme

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Nasal septum perforation as the presenting sign of lupus erythematosus.

Nasal septum perforation is an uncommon and not well known feature of lupus erythematosus (LE). In general, it occurs during exacerbations and in a context of systemic vasculitis. Very rarely it can be a presenting sign, accompanying more usual manifestations of LE. We report the case of a 30-year-old woman who presented with a 2-year history of painful, slowly progressive nasal septum perforation. Laboratory study disclosed positive antinuclear antibodies, circulating immune complexes, hypocomplementemia, nuclear epidermal deposition of IgG in normal skin and transitory positive antiphospholipid antibodies. Symmetric peripheral joint arthritis, photosensitivity and diffuse alopecia subsequently developed. This case seems unique in that the nasal septum perforation occurred as an isolated presenting sign; it emphasizes the value of this feature in the diagnosis of LE.

Pemphigus vulgaris with nail involvement presenting with vegetating and verrucous lesions.

We report the case of a 68-year-old female with longstanding insulin-treated diabetes mellitus, observed for the first time in our department in August 1999 with multiple painful erosive lesions of the oral cavity and many bullous or erosive lesions on the abdominal wall, back, and thigh. She also had vegetating and verrucous lesions, similar to common warts, involving the hands and feet, mainly on the palms, palmar surface of the fingers, and nail folds. Her lesions were present for 1 year. Skin and mucous biopsies showed the characteristic histopathologic findings of pemphigus vulgaris, with an epidermal intercellular IgG deposition on direct immunofluorescence. Histology of a warty lesion of the finger also showed suprabasal acantholysis. After partial improvement with low doses of oral steroids and azathioprine, her disease progressed to involve the oral cavity, trunk, hands, feet, and scalp. Control of her disease required successive treatments of mycophenolate mofetil and cyclophosphamide, as well as corticosteroids. A partial response was obtained with all these treatments. After being controlled by cyclophosphamide that was slowly tapered, she is now well controlled with azathioprine and oral steroids, showing only discrete lesions of the oral mucosa after 1 year of followup. We report this case of pemphigus vulgaris with unusual clinical aspects, namely vegetating and verrucous lesions as well as nail involvement, rarely described in this disease.

Temporal arteritis presenting with scalp ulceration.

We report the case of a 75-year-old-woman who presented with bilateral scalp ulcerations and blindness, accompanied by severe headache and scalp tenderness, due to bilateral temporal arteritis without systemic involvement. A biopsy taken from the border of an ulceration showed evidence of giant cell arteritis. She was treated with oral prednisone, 60 mg per day. The ulcerations healed in a few weeks but the vision loss was irreversible. This case highlights for temporal arteritis the importance of accurate and timely diagnosis as well as the need for prompt therapy with systemic steroids in order to avoid major complications, namely loss of vision. It also demonstrates that scalp necrosis and ulcerations are skin signs associated with a poor prognosis.