A case of diffuse plane normolipemic xanthomatosis associated with pancytopenia and monoclonal gammopathy

We report a case of diffuse plane normolipemic xanthomatosis (DPNX) which showed poorly demarcated, uncommon, yellow macules symmetrically distributed on the nape, axillae and inguinal folds accompanied by severe, persistent itching. Histopathological and ultrastructural studies of skin biopsy specimens revealed the existence of some foamy cells and the deposition of neutral fat in the upper papillary dermis. Laboratory investigations and bone marrow aspirate smears showed that our patient had myelodysplastic syndrome (MDS) associated with pancytopenia and monoclonal gammopathy of undetermined significance. Because our patient had neither a malignant hematological disorder nor a severe systemic disease, monoclonal gammopathy might explain the pathogenesis of DPNX in the present case.     

Mucocutaneous bullous amyloidosis with an unusual mixed protein composition of amyloid deposits

We describe a case of fatal systemic amyloidosis presenting with mucocutaneous bullous lesions in a patient with IgA kappa monoclonal gammopathy. The amyloid plaques were composed of an unusual mixture of immunoglobulin kappa light chain and amyloid A proteins. Whereas oesophageal and oropharyngeal blisters are known to occur in several types of bullous dermatoses, to our knowledge this is the first report of oesophagopharyngeal blisters complicating bullous amyloidosis.     

Escleromixedema

—Scleromyxedema is a type of mucinosis characterized by the presence of lichenoid papules and diffuse induration of the skin. In many cases, it is associated with monoclonal gammopathy and systemic disorders. Histologically, mucin deposits are observed in the dermis, as is a variable degree of fibrosis. We describe a new case in which we have had the opportunity to study its evolution over a 15-year period. This was a 55-year-old female patient. The cutaneous symptoms began 15 years ago, in the form of lichenoid papules in the typical locations, with edema and hardening of the skin. It was accompanied by IgG lambda monoclonal gammopathy. The disease slowly and progressively worsened, with accentuation of the skin and systemic lesions that made a normal life impossible. She has received different treatments, only responding initially to chlorambucil and later to the association of cycles of melphalan/prednisone.     

Unusual primary cutaneous localized amyloidosis

The case of a 41-year-old female patient with an unusual type of primary localized cutaneous amyloidosis is reported. Clinical examination revealed lesions typical for macular cutaneous amyloidosis, while histology and histochemistry, in contrast, revealed the presence of nodular amyloidosis of the skin with deposition of lambda light chain amyloid.     

Scleromyxoedema with associated peripheral neuropathy: successful treatment with thalidomide

We report a patient with scleromyxoedema and peripheral neuropathy treated successfully with thalidomide. An objective evaluation was carried out using histopathology, cutaneous ultrasonography and magnetic resonance imaging (MRI). A 67-year-old woman presented with a leonine face, generalized thickened skin, an underlying peripheral neuropathy and a monoclonal gammopathy. She was treated with thalidomide 100 mg/day. After 20 months of therapy, there was a dramatic clinical improvement in the skin lesions, and the neuropathy also improved. Cutaneous ultrasonography showed a reduction in dermal thickness, whereas the results of the cutaneous MRI were inconclusive. Thalidomide appears to be effective in scleromyxoedema. Its specific effect on the underlying monoclonal gammopathy might have contributed to the improvement in the skin and neurological symptoms. In this case, assessment of cutaneous improvement with cutaneous ultrasonography was superior to that of cutaneous MRI. Thalidomide should be considered for the treatment of scleromyxoedema despite the presence of an underlying peripheral neuropathy.     

Nail abnormalities and scleroderma-like lesions on the face associated with systemic amyloidosis

INTRODUCTION: Mucocutaneous involvement in systemic amyloidosis occurs in 29 to 40 p. 100 of cases. Nail abnormalities are infrequent in AL amyloidosis. We report an original case of AL amyloidosis associated with cutaneous and integument alterations and scleroderma-like infiltration of the face. CASE REPORT: A 73 year-old woman was hospitalized because of weight loss and asthenia. She had been treated 4 years earlier with chemotherapy for a IgG-type multiple myeloma with complete resolution of the underlying monoclonal gammapathy. Cutaneous examination showed nail dystrophy of all fingernails associated with scleroderma-like skin changes on the chin and lips. Histopathologic study of a chin biopsy confirmed the presence of amyloid deposits in the dermis. Laboratory data were normal, without signs of recurrence of multiple myeloma. DISCUSSION: We report an original case of a patient who developed two unusual cutaneous manifestations associated with AL amyloidosis. Moreover, there was no correlation between the severity of the cutaneous lesions and the extent of the underlying hematological disease.     

Nodular primary cutaneous amyloidosis associated with Sjögrens syndrome: presentation of a case

Nodular primary cutaneous amyloidosis is the least frequent clinical form of the cutaneous amyloidoses. It may be associated with myeloproliferative disorders, as well as with systemic amyloidosis. Its association with other entities, such as Sj?gren's syndrome, has recently been described. We present the case of a female patient with Sj?gren's syndrome who developed nodular primary cutaneous amyloidosis.     

Familial poikylodermic cutaneous amyloidosis

Among the less common variants of primary cutaneous amyloidosis are both the poikylodermic and the familial types. The case of two sisters of thirteen and seventeen years old with extensive asymptomatic lesions with a poikylodermic aspect is reported. The girls' father was also affected and a paternal aunt had consulted at our department some years previously for similar lesions. Thus a new case of familial cutaneous amyloidosis with an autosomal dominant hereditary pattern is described. The possible relationship between multiple endocrine neoplasia type 2A (MEN-2A) and familial cutaneous amyloidosis is discussed.     

Diffuse primary cutaneous amyloidosis

A case of extensive primary cutaneous amyloidosis exhibiting both macular and lichenoid lesions is reported. Lesions were arranged in a distinctive linear pattern covering much of the trunk and limbs, in places following Blaschko's lines. The coexistence of macular and lichenoid lesions suggests that this is an unusual variant of biphasic cutaneous amyloidosis.     

Schnitzler''s syndrome with monoclonal IgGκ gammopathy: good response to cyclosporin

Schnitzler's syndrome (SS) is a rare entity characterized by the association of chronic urticaria and monoclonal IgM gammopathy. Usually, intermittent fever, arthralgia and elevation of erythrocyte sedimentation rate also occur. We report a patient with the same symptoms, but with monoclonal IgG instead of IgM paraproteinaemia. Histological examination of the urticarial lesions showed signs of leucocytoclastic vasculitis. After 20 years of therapeutic failure, cyclosporin has achieved a total clearance of urticarial lesions in our patient. Two previous similar cases with clinical features of SS and monoclonal IgG immunoglobulin have been described. We suggest our case also represents a variant of SS with IgG gammopathy.     

Nodular primary cutaneous amyloidosis. Isolation and characterization of amyloid fibrils

A case of nodular cutaneous amyloidosis and Sj?gren's syndrome occurred in a 63-year-old woman. Nodules had been seen for the past ten years and Sj?gren's syndrome had accompanied amyloidosis for the last three years. The concomitant occurrence of nodular cutaneous amyloidosis and Sj?gren's syndrome may not be by chance, since four of 12 cases of nodular cutaneous amyloidosis that have been reported to date in Japan were in patients with both amyloidosis and Sj?gren's syndrome. The amyloid deposits in the tissue were stained with anti-lambda light-chain amyloid antibody. Amyloid fibrils were purified from the skin lesions in this patient and were characterized biochemically, immunologically, and ultrastructurally. The results indicated that the amyloid fibrils consisted of 29,000-, 20,000-, and 17,000- dalton peptides, the 29,000-dalton peptide of which was shown to react with the lambda light chain of immunoglobulin by immunoblot study.     

Type I cryoglobulinemia with a fatal outcome

Type I cryoglobulinemia, a condition associated with lymphoproliferative disorders, is caused by monoclonal immunoglobulins that precipitate at low temperatures. It mostly involves the skin and pathology study shows no signs of vasculitis. Management is usually based on immunosuppressive drugs associated with plasmapheresis for severe disease. The use of rituximab has recently been described for resistant cases. We present an unusual case of long-standing type I cryoglobulinemia associated with a monoclonal gammopathy of unknown significance. The patient developed extremely severe skin lesions with histological signs of vasculitis. The patient died due to the onset of noncutaneous manifestations of the cryoglobulinemia and complications of the immunosuppressive treatment.     

Monoclonal gammopathies and associated skin disorders

The monoclonal gammopathies are characterized by clonal proliferation of plasma cells and other clonally related cells in the B-cell lineage. These disorders include monoclonal gammopathy of undetermined significance, multiple myeloma, Waldenstr?m macroglobulinemia, heavy chain diseases, plasmacytoma, and primary amyloidosis. Many skin disorders have been described in association with monoclonal gammopathies. This article provides an introduction to the definition, detection, natural course, and spectrum of monoclonal gammopathies and a brief discussion of pathogenesis. The article also reviews the skin disorders associated with monoclonal gammopathies, categorizes the association, and evaluates the strength of the association.     

Cutaneous lesions in POEMS syndrome. Apropos of 3 case reports and a review of the literature

We present three new cases of POEMS syndrome with the most common cutaneous signs of this entity. The syndrome is a multivisceral complex, mostly described in Japanese patients, which includes polyneuropathy, organomegaly, endocrine disorders, monoclonal gammopathy and skin changes. The latter are constant but sometimes reduced to one type of lesion. The most frequent are hyperpigmentation sparing the mucosae, hypertrichosis, scleroderma-like skin thickening and capillary angiomas. The other signs are much less common, as shown in table I. Histological findings are seldom reported and usually have little specificity. None of these abnormalities is pathognomonic, but their predominance at the extremities may be suggestive and leads to a search for other elements of the syndrome, notably gammopathy. The main differential diagnostic problem is with scleroderma, sometimes circumscribed and often systemic. Some cases are very ambiguous. The relationship between the two diseases would suggest the existence of one or several common pathogenic factors. The overall physiopathology of POEMS syndrome is obscure. The role of endocrine disorders in the genesis of the cutaneous signs is subject to discussion: hyperoestrogenism may explain some of these signs, but hypertrichosis is incompatible with the frequent finding of low androgen secretion. The role of one or several "toxic" substances secreted by plasmocytes is highly hypothetical. In some cases, the skin abnormalities have regressed after treatment of gammopathy, and in rare patients the recurrence of gammopathy was followed by that of skin lesions. In a few cases, a "paraneoplastic" character may be suspected.     

Unusual localization of lichen amyloidosus. Topical treatment with dimethylsulfoxide

An unusual localization of lichen amyloidosus in a patient with IgG k benign monoclonal gammopathy is reported. After topical treatment with dimethylsulfoxide the lesions improved, but histological examination still showed amyloid deposits.     

Lichen amyloidosis induced on the upper back by long-term friction with a nylon towel

Primary localized cutaneous amyloidosis can take several clinical forms. In Asia, macular amyloidosis caused by prolonged friction from a rough nylon towel or brush is common, and macular amyloidosis and lichen amyloidosis occasionally occur together, as so-called biphasic amyloidosis. We report herein the case of an 83-year-old Japanese man with lichen amyloidosis caused by prolonged nylon towel friction. This patient presented with unique symmetrical papular lesions on the upper back and shoulders. Lesions comprised slightly shiny, brownish, fine uniform papules approximately 0.5 mm in diameter, showing a partially linear, annular or rippled arrangement. Although this case was caused by prolonged nylon towel friction, no coexisting macular lesions could be found. To the best of our knowledge, this represents the first case of lichen amyloidosis induced by nylon towel friction in the absence of the macular amyloidosis that is usually observed in such cases. We instructed the patient to stop the habit of nylon towel rubbing and prescribed a topical steroid ointment and cepharanthine. After 6 months of treatment, papular lesions became clearly flatter.     

原发于头皮的皮肤淀粉样变一例

原发性皮肤淀粉样变皮损常见于双侧胫前、背部及大腿,也可见于阴茎及面颈部,原发于头皮者少见,诊治具有一定的难度。现报道1例我科诊治原发于头皮的皮肤淀粉样变患者。给予0.1%维A酸外用头皮,治疗2个月,皮损变化不明显,瘙痒缓解,目前进一步随访中。     

Skin sclerosis as a manifestation of POEMS syndrome

We report a case of a 64‐year‐old man with POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes) syndrome that had been previously misdiagnosed as systemic sclerosis. He had typical symptoms of POEMS syndrome, however, the existence of skin sclerosis, contracture of fingers and pigmentation were similar to that of systemic sclerosis. Ten patients, including the patient discussed in this case, visited our department between 1990 and 2011. Among them, five patients had skin sclerosis. Therefore, we compared skin lesions and clinical/laboratory features of POEMS syndrome and systemic sclerosis in an attempt to distinguish these disorders. Regarding the cutaneous and laboratory findings, the existence of hemangioma or hypertrichosis is indicative of POEMS syndrome. By contrast, the existence of systemic sclerosis‐specific autoantibodies, nail fold bleeding, digital ulcer/digital pitting scar or telangiectasia is highly suggestive of systemic sclerosis. To our knowledge, this is the first report to discuss in detail the differentiation between POEMS syndrome and systemic sclerosis.     

AA amyloidosis: a little-known complication of chronic leg ulcer

INTRODUCTION: AA amyloidosis, secondary to inflammatory chronic diseases like rheumatoid arthritis, is often complicated by renal failure. Chronic inflammatory dermatoses constitute rare causes of AA amyloidosis. CASE-REPORT: We describe two cases of AA amyloidosis discovered after renal failure in patients presenting leg ulcers for several years. AL amyloidosis was suspected in both cases because of a history of monoclonal gammopathy in one patient and of plasmocytoma in the other. The diagnosis of AA amyloidosis was confirmed on renal histology through the detection of AA antibodies in amyloid deposits. No extrarenal amyloidosis was seen in either patient and there were no inflammatory diseases other than chronic leg ulcers. DISCUSSION: AA amyloidosis is caused by serum amyloid protein A (SAA), a reactive inflammatory protein. AA amyloidosis is thus caused by chronic inflammatory diseases, but only rarely by cutaneous inflammatory diseases. To our knowledge, the literature contains only seven other published cases of AA amyloidosis secondary to chronic leg ulcers. A review of the literature does not indicate whether cure of ulcers has any effect on the accompanying renal failure. We imagine that AA amyloidosis secondary to leg ulcer is in fact under-diagnosed. However, since the first specific treatment for AA amyloidosis is currently being evaluated by the Food and Drug Administration, it is essential that this serious complication of chronic leg ulcers be widely recognised.     

Generalized discoid lupus erythematosus with benign monoclonal gammopathy.

This paper presents the case of a patient with generalized discoid lupus erythematosus. During the past 25 years the patient has developed moderate systemic symptoms including leukopenia, anemia, elevated erythrocyte sedimentation rate and decreased serum complement. In the last 7 years, the serum γ-globulin level has become conspicuously elevated, revealing a sharp monoclonal pattern. A M-bow was detected in the IgG- and K-chain precipitin arcs in immunoelectrophoresis. IgG type monoclonal gammopathy was confirmed, while the serum IgM level was decreased. No symptom suggesting the presence of multiple myeloma has ever been demonstrated by repeated bone X-ray and the bone-marrow examinations. The monoclonal gammopathy was well correlated with the intensity of cutaneous deteriolation and general symptoms.