Scleromyxedema with multiple systemic involvement: Successful treatment with intravenous immunoglobulin

Scleromyxedema is a rare connective tissue disorder characterized by a generalized lichenoid eruption and sclerodermoid induration with histologic features of dermal mucin deposition. A 44‐year‐old man presented with a 3‐year history of generalized progressive skin thickening and sclerosis. He had diffuse skin‐colored to erythematous firm papules coalescing into indurated plaques over his whole body. He had been diagnosed with scleromyxedema from a skin biopsy with monoclonal gammopathy of undetermined significance (MGUS) at another tertiary hospital 3 years earlier. He had been treated with systemic corticosteroids and methotrexate, but his systemic symptoms (dyspnea, dysphagia, skin swelling, and induration) had worsened over the past year, so he visited our clinic seeking further evaluation and management. The patient received high‐dose intravenous immunoglobulin (IVIG) therapy once a month in combination with systemic corticosteroids. After three courses of IVIG, his cutaneous symptoms and dyspnea had improved dramatically. Herein we report a case of scleromyxedema with systemic involvement with significant improvement following IVIG therapy.     

Necrobiotic xanthogranuloma with paraproteinaemia

A 66-year-old man with necrobiotic xanthogranuloma associated with paraproteinaemia is described. He also had long-standing normolipaemic plane xanthomata. Treatment was with melphalan 0.15 mg/kg body weight/day. Initially, three 5-day courses were given at 4-weekly intervals but a fourth course was necessary after a further 4 months because of a deterioration in both his skin and associated systemic symptoms.     

Treatment of refractory pyoderma gangrenosum with intravenous immunoglobulin

We report a patient with pyoderma gangrenosum successfully treated with intravenous immunoglobulin. He had previously been treated for 4 years with high-dose corticosteroids and had developed insulin-dependent diabetes mellitus. Multiple corticosteroid-sparing agents had failed or were contraindicated. He developed no adverse effects from intravenous immunoglobulin, which allowed reduction of his prednisone to 3 mg/day, and his ulcer has completely healed.     

Pyoderma gangrenosum associated with ulcerative colitis

We report the case of a 45-year old man with non-healing ulcers located on his chest, lumbal, sacral, retroauricular areas and forehead. Both clinical and histopathological examinations suggested pyoderma gangrenosum (PG). For six months the diagnosis of ulcerative colitis was established. PG in our patient was presented as a rapidly enlarging, painful ulcer with purple, undermined edges and a necrotic, haemorrhagic base. Initially, he was treated with a high dosage of peroral glucocorticosteroid, sulfasalazine, and systemic antibiotics, together with daily wound care. Ulceration partially regressed. Total colonoscopy showed pancolitis. When the dose of glucocorticosteroids was tapered down to 35 mg, new ulcerations on his right thigh and abdomen were formed. He also developed E. coli sepsis and flare up of bowel disease. Azathioprine, together with two pulse doses of glucocorticosteroids and antibiotics, were administered. He was scheduled for a total colectomy. The management of PG continues to be a therapeutic challenge.     

Erlotinib-assoziiertes akneiformes Exanthem

A 73-year-old man has been suffering from a pulmonary adenocarcinoma for three years. He has been treated with the EGF-inhibitor erlotinib for the past 18 months. While taking this medication he developed a progressive papulopustular rash on his face and trunk which later spread to his thighs. Topical treatment with methylprednisolone and nadifloxacin, as well as short courses of systemic doxycycline and ciprofloxacin, led to marked improvement and control of his skin condition.     

Immunoablative high-dose cyclophosphamide without stem cell rescue in a patient with pemphigus vulgaris

The use of ablative intravenous cyclophosphamide (50 mg/kg per day for 4 days) without stem cell rescue has been described in patients with refractory autoimmune diseases such as paraneoplastic pemphigus, systemic lupus erythematosus, and aplastic anemia. We describe a 33-year-old patient with pemphigus vulgaris recalcitrant to multiple therapies. The patient presented with numerous oral ulcerations, erosions, and hyperpigmented crusted plaques on his face, trunk, and arms. Findings of a skin biopsy and direct immunofluorescence were consistent with pemphigus vulgaris. The circulating pemphigus vulgaris autoantibodies were present at a titer of 1:640. The patient received immunoablative therapy (50 mg/kg of cyclophosphamide for a total of 4 days) and tolerated the regimen well. Complications such as thrombocytopenia and Pseudomonas septicemia were quickly treated. Four months after the 4-day therapy, his oral and skin lesions completely healed, and his pemphigus titers have decreased to zero. He is no longer receiving prednisone and no new lesions have developed. This provides further evidence that this regimen is relatively safe and provides a potential "cure" for refractory autoimmune diseases such as pemphigus vulgaris.     

Antiretroviral‐induced toxic epidermal necrolysis in a patient positive for human immunodeficiency virus

Stevens–Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are two variants on a spectrum of severe systemic hypersensitivity characterized by blistering maculopapular lesions and desquamation of the skin and mucus membranes. Although several causative agents, including infections, have been reported for SJS/TEN, medications remain the most common cause. We report the case of a 42‐year‐old man with human immunodeficiency virus (HIV) who developed TEN 4 months after starting treatment with darunavir and abacavir. The patient presented with upper body lesions, oral mucosal ulcerations, and impending airway compromise. He was intubated and admitted to the burns unit. Score for Toxic Epidermal Necrolysis (SCORTEN) was 5, with > 90% predicted mortality. However, after intravenous immunoglobulin and supportive treatment, the patient made a remarkable recovery. Abacavir and darunavir may be associated with SJS/TEN. TEN should be considered a risk for patients with HIV and should be monitored for cutaneous eruptions for several months after changes in treatment regimen.     

A fatal case of malignant atrophic papulosis (Degos' disease) in a man with factor V Leinden mutation and lupus anticoagulant

Malignant atrophic papulosis (Degos' disease) is a very rare condition characterized by atrophic papular skin lesions and variable association of systemic involvement. We describe a 33-year-old man who presented with a widespread skin eruption consistent with malignant atrophic papulosis. During the course of the disease he even developed penile ulcerations, a symptom that has been reported only a few times previously. He subsequently died of multiple perforations of the small bowel 2.5 years after onset of the disease. Laboratory investigations revealed a mutation of factor V Leiden and the presence of lupus anticoagulant, but no anti-cardiolipin antibodies. The patient was treated with narrow-band ultraviolet (UV)B, prednisolone and, later, aspirin, pentoxifyllin and warfarin. Despite this very intensive anticoagulant and anti-platelet therapy, the treatment had no effect on the skin lesions and could not prevent systemic involvement.     

Psoriasis vulgaris als Trigger eines superfiziellen multilokulären Pyoderma gangraenosum?

We report on a 60-year-old man with psoriasis vulgaris who had developed disseminated ulcerations of different sizes over the complete integument over a period of 3 months. The initial examination revealed approximately 150 clearly defined ulcerations, which were mostly reported to be painless. The histopathology report of a biopsy taken from the border area of an ulceration showed a nonspecific inflammation with a predominantly neutrophilic infiltrate. In the synopsis of all results, after excluding relevant differential diagnoses, we diagnosed a superficial multilocular pyoderma gangrenosum that had possibly developed in the areas of the preexisting psoriasis vulgaris. Reports of superficial multilocular pyoderma gangrenosum, a variation of pyoderma gangrenosum, are extremely rare. This condition is characterised by multiple superficial, chronically persistent ulcerations. These ulcerations are often described as indolent and usually develop from a pustule in the area of a preexisting condition or trauma. Up to now, psoriasis vulgaris has seldom been described as a trigger for pyoderma gangrenosum. The treatment is very difficult and is based on local and/or systemic immunosuppression. In this patient's case, considerable improvement was attained with a topical polyhexanide gel in combination with moist wound therapy, with no systemic immunosuppression. Our case report underscores that physicians should keep in mind the rare variation of superficial multilocular pyoderma gangrenosum in the differential diagnosis of multiple disseminated, painless ulcerations over the complete integument in patients with psoriasis vulgaris.     

滤泡树突状细胞肉瘤相关的副肿瘤天疱疮

报告1例滤泡树突状细胞肉瘤相关的副肿瘤天疱疮。患者男,16岁。因口腔、外阴溃疡伴发热2个月余,全身糜烂20d入院。临床表现为口腔、生殖器溃疡,全身水疱、糜烂及结痂,皮损组织病理改变符合副肿瘤天疱疮。腹部CT示右肾上腺占位性病变,手术切除并经组织病理证实为滤泡树突状细胞肉瘤。经大剂量静脉注射用人免疫球蛋白及口服、静脉滴注糖皮质激素和免疫抑制剂治疗后,采用手术切除肿瘤,术后7周躯干皮损基本愈合,遗留黏膜损害及肢端皮损。     

Healing of Ulcers due to Cryofibrinogenemia with Colchicine and High-Dose Pentoxifylline

Cryofibrinogenemia is due to the presence of reversibly cold-precipitating plasma proteins and material, consisting mostly of fibrinogen, fibronectin, and fibrin. This condition can be idiopathic or secondary to infection, thromboembolic states, neoplasm, or connective tissue disease. The characteristic lesions of cryofibrinogenemia include purpura and ulcerations. Histologically, the lesions of cryofibrinogenemia demonstrate fibrin thrombi within vessels, with no evidence of vasculitis. Treatment of cryofibrinogenemia should be directed at the underlying disease process, if one can be found. Other treatments have included the anabolic steroid stanozolol, which is presently unavailable, anticoagulants, immunosuppressive agents, plasmapheresis, and the combination of streptokinase and streptodornase. We report a case of a 61-year-old male smoker with a 10-year history of intermittent ulcerations of both legs and feet. Two separate biopsies showed epidermal ulceration and thrombi within superficial dermal vessels without evidence of vasculitis. These findings, together with the presence of elevated plasma cryofibrinogen, led to the diagnosis of cryofibrinogenemia. The patient continued to have ulcerations despite efforts to control his high blood pressure, cold avoidance, local wound care, and treatment with pentoxifylline 800 mg three times daily. However, when colchicine 0.6 mg twice daily was added to the patient’s care, this led to rapid healing of his ulcerations. He has remained ulcer free for 2 years taking the combination of colchicine and high-dose pentoxifylline. Efforts to reduce the dose of these agents have repeatedly led to recurrences, and remission has promptly followed re-establishment of the combination. To our knowledge, this is the first report documenting use of the combination of colchicine and high-dose pentoxifylline to successfully treat ulcers due to cryofibrinogenemia.     

Neonatal linear immunoglobulin a bullous dermatosis: a rare presentation

Linear immunoglobulin A bullous dermatosis (LABD) is an autoimmune blistering disease that most commonly presents in preschool-aged children. There have been few neonatal reports, all of which had life-threatening aerodigestive complications requiring mechanical intervention and systemic therapy. We present a case of LABD in a neonate who had an uncomplicated course and was treated conservatively with only low-potency topical corticosteroids and wound care before resolution of his skin lesions.     

Marjolin's Ulcer Presenting with In-Transit Metastases: A Case Report and Literature Review

Marjolin''s ulcer is an aggressive cutaneous malignancy common in previously traumatized or chronically inflamed skin. It has high regional metastasis and fatality rates. Our patient presented with subcutaneous nodules and ulcerations on the right limb. He had a history of osteomyelitis of the fifth toe. Histopathological examination of the nodule and ulceration demonstrated squamous cell carcinoma. The nodules and ulcerations were in-transit metastases of Marjolin''s ulcer. Here, we present a case of squamous cell carcinoma arising at a site of a chronic osteomyelitis with resultant in-transit metastases.     

Hyperimmunoglobulin E syndrome: two cases and a review of the literature

Hyperimmunoglobulin E syndrome (HIES) is a rare immunodeficiency associated with elevated serum IgE levels, eczematous skin, recurrent cutaneous infections, and distinctive musculoskeletal features. We report two cases seen at our institution and review the current literature. Patient 1 was an 18-month-old African American boy with recurrent staphylococcal cold abscesses, pneumonia, and bacteremia. He had severely eczematous skin, ultimately complicated by eczema herpeticum. After treatment of systemic infections with culture-directed antibiotics, a brief course of cyclosporine, 5 mg/kg, improved the dermatitis and allowed transition to long-term therapy with oral trimethoprim-sulfamethoxazole. Patient 2 was a 15-year-old Caucasian boy with long-standing HIES. He has been maintained on a regimen of interferon gamma injections given 3 times weekly and monthly intravenous immunoglobulin since the age of 3 years, prophylactic antibiotics, and low-dose fluconazole. He has occasional episodes of cold abscesses and sinusitis, but has had excellent control since institution of this regimen and has not experienced any adverse effects.     

Urticarial Vasculitis with Papular Lesions in a Patient with Type C Hepatitis and Cryoglobulinemia

We describe a case of urticarial vasculitis accompanied by erythematous wheals, palpable pupura, and subsequent necrotic ulcerated papular lesions in a patient with type C chronic hepatitis and type II cryoglobulinemia (IgM-kappa and polyclonal IgG). A 56-year-old man developed recurrent urticarial lesions on his lower extremities and trunk. The histology revealed leukocytoclastic vasculitis with perivascular immunoglobulin deposits. Subsequently, multiple reddish papular lesions with necrotic ulcerations appeared on the extensor aspect of his extremities and buttocks. Histology of these lesions showed cryoglobulinemic vasculitis with prominent fibrinoid necrosis of the vascular walls and cryoprecipitate within the vasculature as well as increased hyalinized collagen bundles. These papular lesions have not previously been described as cutaneous necrotizing venulitis to the best of our knowledge. It is suggested that the immune response to hepatitis C virus infection and cryoglobulins may be responsible for severe necrotizing venulitis, resulting in unusual cutaneous lesions.     

Disseminated cutaneous granulomatous eruptions associated with myelodysplastic syndrome and acute myeloid leukaemia

Two elderly male patients presented with similar, widespread, papular, granulomatous eruptions and developed myelodysplastic syndromes. The first showed histological features of diffuse granuloma annulare and had mild hypergammaglobulinaemia, slightly abnormal liver function and a leucoerythroblastic anaemia. He developed acute myeloid leukaemia (AML) secondary to a background myelodysplastic syndrome and was treated with combination chemotherapy during which his eruption settled; his AML and his skin are in remission 1 year later. The second developed a myelodysplastic syndrome and a similar rash with histological features of papular cutaneous sarcoidosis but no systemic abnormalities apart from mild hypergammaglobulinaemia, cutaneous anergy to multiple recall antigens and activation of circulating monocytes. He has remained well but his rash and myelodysplastic syndrome have persisted. These cases are interesting because of the striking similarity of their granulomatous eruptions and their associated haematological abnormalities. Patients with such disseminated, granulomatous cutaneous infiltrations should be investigated to exclude associated haematological abnormalities if there is any abnormality of their peripheral blood picture.     

A case of pachyonychia congenita with unusual manifestations: an unusual type or a new syndrome?

A 30‐year‐old man presented with lesions on his oral mucosa and soles. There were no similar complaints in his family members. The dermatological examination revealed follicular hyperkeratosis on his trunk and upper extremities and flesh‐colored, firm cystic lesions on his axillae. He had focal, painful, hyperkeratotic areas sited particularly on both his soles and palms. In addition to these, leukokeratosis and ulcerative areas on buccal, labial mucosa, tongue, and at corners of the mouth, and complete loss of teeth was observed. The proximal layering was revealed on all of his nails. The laboratory investigations produced normal results except the deficiency of immunoglobulin A. The psychiatric examination revealed mild mental retardation. Keratin gene (KRT6a, KRT6b, KRT16, and KRT17) mutations for pachyonychia congenita were negative. He got removable dental prosthesis because of inadequate alimentation. Squamous cell cancer developed on lower lip mucosa during follow‐up. We present an individual who had different nail dystrophy, epidermal cysts, mental retardation, blepharitis, complete loss of teeth, and negative keratin gene mutations for pachyonychia congenita and developed squamous cell cancer on the oral leukokeratosis lesions. We think that the present case may be an unusual new type of pachyonychia congenita.     

Acne fulminans with circulating immune complexes and leukaemoid reaction treated with steroids and azathioprine

A 16-year-old boy developed within a few days severe acne fulminans. Unlike previously described cases, moderate steroid therapy did not give control. He required both high dosage steroid and azathioprine. This combined therapy took 10 months before full remission of his systemic illness and cutaneous inflammatory activity was achieved. He has been left with extensive hypertrophic and atrophic scarring. During the course of the illness he had a sustained leukaemoid reaction and circulating immune complexes. The latter has not previously been described in acne fulminans in the absence of accompanying erythema nodosum.     

Common variable immunodeficiency treated with a recombinant human IgG, tumour necrosis factor-alpha receptor fusion protein

Common variable immunodeficiency (CVI) is characterized by a failure in B-cell differentiation and impaired immunoglobulin secretion, but with a variable clinical presentation, including the development of sarcoidal granulomas and autoimmune diseases, as well as an increased incidence of malignancies. We present a 21-year-old white man who carried a diagnosis of juvenile rheumatoid arthritis and presented 6 years later with scarring alopecia showing sarcoidal granulomas. Further work confirmed the diagnosis of CVI, and with increasing systemic symptoms, it was elected to treat the patient with a tumour necrosis factor (TNF)-alpha antagonist, a TNF-alpha receptor IgG1 fusion protein. The patient showed improvement in his systemic symptoms and some hair regrowth after 3 months of therapy, and continued improvement in his systemic disease with only mild scalp hair thinning in the areas of prior involvement after almost 1 year of therapy. CVI and sarcoid may have overlapping clinical and immunological findings. Previous therapies for CVI, including intravenous immunoglobulin, have not altered the mortality of the disease. TNF-alpha is a primary cytokine and is elevated in CVI, and specific inhibition of TNF-alpha in this patient was effective in moderating his disease, including his skin disease.