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Microscopic polyangiitis with oculomotor nerve palsy and skin eruptions
P2016
P2018
Wegener’s disease: Secondary positivity of the ANCA laila Bichra, MD, UHC Ibn Rochd, Casablanca, Morocco; Khadija Khadir, PhD, UHC Ibn Rochd, UHC Ibn Rochd, Casablanca, Morocco; Sofia Azzouzi, PhD, UHC Ibn Rochd, Casablanca, Morocco; Hakima Benchikhi, PhD, UHC Ibn Rochd, Casablanca, Morocco
Microscopic polyangiitis with oculomotor nerve palsy and skin eruptions Mariko Seishima, MD, Ogaki Municipal Hospital, Ogaki, Japan; Yoko Mizutani, MD, Ogaki Municipal Hospital, Ogaki, Japan; Yoshinao Shibuya, MD, Ogaki Municipal Hospital, Ogaki, Japan; Chikako Nagasawa, MD, Ogaki Municipal Hospital, Ogaki, Japan
Wegener’s disease is a granulomatous necrosing vasculitis that can have a multisystemic localization but concerns preferentialy ORL sphere, the lung and the kidney. We report a new case revealed by a necrotic centrofacial process. A 57-yearold patient was followed for 1 month for sinusian tuberculosis retained on clinical arguments (sinusitis, cough, hemoptysis), biological (cANCA negative) and histological (tuberculoid granuloma without caseous necrosis), treated by antibacillars. The patient was referred in our department for necrotic centrofacial process 3 weeks later. The clinical examination found an icteric patient, in bad general condition, a complete pyramid nasal necrosis with purpuric lesions and rosettes on the level of the ends, an erosive cheilitis and a bilateral purulent conjunctivitis. The antibacillar treatment was stopped. Biology showed a sedimentation test accelerated to 90 mm the first hour; a hepatic cytolysis; a hyperbilirubinemy; the renal function and the account of Addis were normal; the 24-hour proteinuria was negative, and the immunological exam found a raised cANCA with 41 UI/ml. Thoracic TDM revealed bilateral pleuritis of low abundance without parenchymatous lesions nor ADP and the Blondeau scanner showed a pansinusite.The cutaneous biopsy of the rosettes and purpuric lesions found out a leucocytoclasic vasculitis and the second reading of the sinusian biopsy revealed a granulomatous vasculitis.The diagnosis of Wegener’s disease was made; the patient was given corticotherapy (1.5 mg/kg/d) associated to bolus of endoxan (0.7 g/m) and necrosectomy was also performed. The evolution was marked by a spectacular improvement after 1 month of treatment, but renal involvement occurred after 2 months. A pulse of cyclophosphamide was then given. The interest of our observation is to recall this rare etiology of the centrofacials granulomes which it is necessary to seek in the case of ORL and pulmonary symptomatology associated and that in spite of the negativity of the ANCA. We only found another case of Wegener’s disease away on retrospective series of 53 cases of centrofacial granuloma.
Microscopic polyangiitis (MPA) is defined as necrotizing vasculitis which affects small vessels and is commonly featured by necrotizing glomerulonephritis and pulmonary involvement. It is considered that myeloperoxidase anti-neutrophil cytoplasmic antibodies (MPO-ANCA) are diagnostic for MPA, because 50% to 80% of MPA is positive in active stage. Skin is affected in 20% to 70% of patients with MPA and various cutaneous involvements are observed including purpura and erythema. Neurologic involvements, which usually manifest as multiple mononeuritis of sensory and/or motor nerves, are seen in 30% to 70% of MPA. However, cranial nerve palsy rarely occurs in MPA. The symptoms are possibly caused by ischemic changes of the nerve fascicle caused by vasculitis. We present a patient of MPA with oculomotor nerve palsy and skin eruptions. A 66-year-old woman was referred to our hospital complaining of diplopia, blepharoptosis, and impairment of ocular movement of her left eye except for lateral gaze from 3 days before the consultation with 1-month history of fever ([388C). Multiple erythema and purpura 5 mm to 15 mm in diameter were observed on the forehead, bilateral cheeks, and legs without itching. Laboratory findings showed that MPO-ANCA were positive; the titer was 433 EU (normal: \10 EU). Proteinase-3 ANCA, rheumatoid factor, and eosinophilia were not detected, but liver dysfunction was observed. Magnetic resonance imaging and computed tomography using contrast agent showed no abnormal findings, such as injury, tumor, or aneurysm in the brain. Histologic findings of skin biopsy specimen from the erythema on the left cheek showed necrotizing vasculitis on small-sized vessels and perivascular infiltration of neutrophils and lymphocytes in the middle and lower dermis without granuloma formation. From these findings, a diagnosis of MPA with oculomotor nerve palsy was made. After steroid pulse therapy with 1 g/day of methylprednisolone for 3 days, prednisolone was given at 50 mg/day for 4 weeks and then the dose was gradually reduced. Cyclophosphamide was added at 50 mg/day. Diplopia, ptosis, and impairment of ocular movement of left eye were gradually restored from 1 month after the treatment. Erythema on the face and legs also disappeared but remained slight pigmentation. The titer of MPO-ANCA was reduced to 37 EU 4 weeks after the therapy. These findings suggest that early and sufficient dose of steroid is needed for this disease after the prompt diagnosis.
Commercial support: None identified.
Commercial support: None identified.
P2017 Hereditary hemochromatosis presenting as porphyria cutanea tarda in a patient homozygous for the HFE H63D mutation John Kraft, MD, Division of Dermatology, Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada; Scott Walsh, MD, PhD, Division of Dermatology, Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada Background: Porphyria cutanea tarda (PCT) is characterized by skin fragility in sunexposed areas because of the deposition of porphyrin intermediates. Inhibition of the enzyme uroporphyrinogen decarboxylase by iron results in accumulation of porphyrin products in the skin and the phenotype of PCT. Causes of iron overload include hereditary hemochromatosis (HH). Patients with PCT have a higher incidence of HH gene (HFE) mutations than the general population. The two mutations of the HFE gene most strongly associated with HH include C282Y and H63D. The clinical significance of the H63D mutation is unclear. Some studies show a significant association between H63D and iron overload while other show a significance only if inherited with the C282Y mutation. We present a patient with PCT found to have underlying HH, homozygosity for the H63D mutation, and systemic complications of HH. Report of a case: A 44-year-old male, non-drinker, with diabetes mellitus type II presented with recurrent skin fragility of the hands for 2 years. Clinical and laboratory findings were consistent with PCT. Investigations for hepatitis B and C were negative. However, he did admit to an extensive intake of red meat and that several siblings also had PCT. Iron studies were consistent with hemochromatosis. There was an elevated transferrin (FE) saturation of 0.76 (0.20-0.55), a ferritin of 587 (20-400) g/L, and a serum iron of 37 (10-30) mol/L. Liver enzymes showed a mild transaminitis (ALT of 105 (\40) IU/L, and AST of 46 (\37) IU/L). An antinuclear antibody screen was negative. Polymerase chain reaction analysis from peripheral blood lymphocytes found that he was homozygous for the His63Asp (H63D) mutation of the HFE gene. Investigations for complications of HH revealed hypogonadotropic hypogonadism and cirrhosis of the liver with grade 1 esophageal varices. There was no evidence of hepatocellular carcinoma, cardiomyopathy, or thyroid function abnormalities. Initial treatment with phlebotomy every week reduced his ferritin to below 50 g/L by 6 months. Phlebotomy every 6 weeks was sufficient to maintain his ferritin at this level. Twelve months after presentation, his ferritin remains below 50 g/L and he remains free of skin lesions.
P2019 Renal cell carcinoma presenting on lower lip Marissa Newman, UMDNJ-Robert Wood Johnson Medical School, New Brunswick, NJ, United States; M. Alamgir, UMDNJ-Robert Wood Johnson Medical School, New Brunswick, NJ, United States; Babar Rao, MD, UMDNJRobert Wood Johnson Medical School, New Brunswick, NJ, United States
Conclusion: The H63D mutation has had questionable significance in the homozygous state, but as demonstrated by this patient, it can manifest with classic complications of hemochromatosis including porphyria cutanea tarda, diabetes, primary hypogonadism, and cirrhosis.
Renal cell carcinoma (RCC) is notorious for variable presentation and proclivity to metastasize early. We present a case of cutaneous metastases being the initial manifestation of occult RCC. A 69-year-old man presented with a skin colored, 8-mm nodule on his lower lip which was clinically thought to be a pyogenic granuloma, hemangioma, or condyloma. Biopsy of the lesion and subsequent histopathology revealed groups of polygonal cells containing abundant pale-staining, eosinophilic, finely granular cytoplasm, and enlarged hyperchromatic nuclei with prominent basophilic to eosinophilic nucleoli, consistent with clear cell type RCC. Cells reacted positively with immunostains for vimentin, CD10, keratins, AE1-AE3, cytokeratin 7 and epithelial membrane antigen. On follow-up, the patient was found to have systemic metastases and is undergoing chemotherapy. Approximately 30% to 40% of patients with RCC have evidence of distal metastases at the time of initial presentation, preferentially to the lung, bone, and/or liver, most frequently via hematogenous dissemination. Cutaneous metastases of RCC occur in 3% to 7% of cases and are moreover the presenting symptom in 10% to 20% of cases. Skin metastases correlate with advanced stages of renal cell carcinoma and systemic involvement. The 5-year survival rate with a solitary metastatic lesion is 13% to 50% versus 0% to 8% with multiple lesions. Palliative excision is recommended for single lesions, while chemotherapy may be appropriate for multiple lesions. Accordingly, expanding cutaneous nodules require a high index of suspicion and necessitate biopsy, because they can mimic more benign lesions.
Commercial support: None identified.
Commercial support: None identified.
FEBRUARY 2007
J AM ACAD DERMATOL
AB137
P2018
Wegener’s disease: Secondary positivity of the ANCA laila Bichra, MD, UHC Ibn Rochd, Casablanca, Morocco; Khadija Khadir, PhD, UHC Ibn Rochd, UHC Ibn Rochd, Casablanca, Morocco; Sofia Azzouzi, PhD, UHC Ibn Rochd, Casablanca, Morocco; Hakima Benchikhi, PhD, UHC Ibn Rochd, Casablanca, Morocco
Microscopic polyangiitis with oculomotor nerve palsy and skin eruptions Mariko Seishima, MD, Ogaki Municipal Hospital, Ogaki, Japan; Yoko Mizutani, MD, Ogaki Municipal Hospital, Ogaki, Japan; Yoshinao Shibuya, MD, Ogaki Municipal Hospital, Ogaki, Japan; Chikako Nagasawa, MD, Ogaki Municipal Hospital, Ogaki, Japan
Wegener’s disease is a granulomatous necrosing vasculitis that can have a multisystemic localization but concerns preferentialy ORL sphere, the lung and the kidney. We report a new case revealed by a necrotic centrofacial process. A 57-yearold patient was followed for 1 month for sinusian tuberculosis retained on clinical arguments (sinusitis, cough, hemoptysis), biological (cANCA negative) and histological (tuberculoid granuloma without caseous necrosis), treated by antibacillars. The patient was referred in our department for necrotic centrofacial process 3 weeks later. The clinical examination found an icteric patient, in bad general condition, a complete pyramid nasal necrosis with purpuric lesions and rosettes on the level of the ends, an erosive cheilitis and a bilateral purulent conjunctivitis. The antibacillar treatment was stopped. Biology showed a sedimentation test accelerated to 90 mm the first hour; a hepatic cytolysis; a hyperbilirubinemy; the renal function and the account of Addis were normal; the 24-hour proteinuria was negative, and the immunological exam found a raised cANCA with 41 UI/ml. Thoracic TDM revealed bilateral pleuritis of low abundance without parenchymatous lesions nor ADP and the Blondeau scanner showed a pansinusite.The cutaneous biopsy of the rosettes and purpuric lesions found out a leucocytoclasic vasculitis and the second reading of the sinusian biopsy revealed a granulomatous vasculitis.The diagnosis of Wegener’s disease was made; the patient was given corticotherapy (1.5 mg/kg/d) associated to bolus of endoxan (0.7 g/m) and necrosectomy was also performed. The evolution was marked by a spectacular improvement after 1 month of treatment, but renal involvement occurred after 2 months. A pulse of cyclophosphamide was then given. The interest of our observation is to recall this rare etiology of the centrofacials granulomes which it is necessary to seek in the case of ORL and pulmonary symptomatology associated and that in spite of the negativity of the ANCA. We only found another case of Wegener’s disease away on retrospective series of 53 cases of centrofacial granuloma.
Microscopic polyangiitis (MPA) is defined as necrotizing vasculitis which affects small vessels and is commonly featured by necrotizing glomerulonephritis and pulmonary involvement. It is considered that myeloperoxidase anti-neutrophil cytoplasmic antibodies (MPO-ANCA) are diagnostic for MPA, because 50% to 80% of MPA is positive in active stage. Skin is affected in 20% to 70% of patients with MPA and various cutaneous involvements are observed including purpura and erythema. Neurologic involvements, which usually manifest as multiple mononeuritis of sensory and/or motor nerves, are seen in 30% to 70% of MPA. However, cranial nerve palsy rarely occurs in MPA. The symptoms are possibly caused by ischemic changes of the nerve fascicle caused by vasculitis. We present a patient of MPA with oculomotor nerve palsy and skin eruptions. A 66-year-old woman was referred to our hospital complaining of diplopia, blepharoptosis, and impairment of ocular movement of her left eye except for lateral gaze from 3 days before the consultation with 1-month history of fever ([388C). Multiple erythema and purpura 5 mm to 15 mm in diameter were observed on the forehead, bilateral cheeks, and legs without itching. Laboratory findings showed that MPO-ANCA were positive; the titer was 433 EU (normal: \10 EU). Proteinase-3 ANCA, rheumatoid factor, and eosinophilia were not detected, but liver dysfunction was observed. Magnetic resonance imaging and computed tomography using contrast agent showed no abnormal findings, such as injury, tumor, or aneurysm in the brain. Histologic findings of skin biopsy specimen from the erythema on the left cheek showed necrotizing vasculitis on small-sized vessels and perivascular infiltration of neutrophils and lymphocytes in the middle and lower dermis without granuloma formation. From these findings, a diagnosis of MPA with oculomotor nerve palsy was made. After steroid pulse therapy with 1 g/day of methylprednisolone for 3 days, prednisolone was given at 50 mg/day for 4 weeks and then the dose was gradually reduced. Cyclophosphamide was added at 50 mg/day. Diplopia, ptosis, and impairment of ocular movement of left eye were gradually restored from 1 month after the treatment. Erythema on the face and legs also disappeared but remained slight pigmentation. The titer of MPO-ANCA was reduced to 37 EU 4 weeks after the therapy. These findings suggest that early and sufficient dose of steroid is needed for this disease after the prompt diagnosis.
Commercial support: None identified.
Commercial support: None identified.
P2017 Hereditary hemochromatosis presenting as porphyria cutanea tarda in a patient homozygous for the HFE H63D mutation John Kraft, MD, Division of Dermatology, Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada; Scott Walsh, MD, PhD, Division of Dermatology, Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada Background: Porphyria cutanea tarda (PCT) is characterized by skin fragility in sunexposed areas because of the deposition of porphyrin intermediates. Inhibition of the enzyme uroporphyrinogen decarboxylase by iron results in accumulation of porphyrin products in the skin and the phenotype of PCT. Causes of iron overload include hereditary hemochromatosis (HH). Patients with PCT have a higher incidence of HH gene (HFE) mutations than the general population. The two mutations of the HFE gene most strongly associated with HH include C282Y and H63D. The clinical significance of the H63D mutation is unclear. Some studies show a significant association between H63D and iron overload while other show a significance only if inherited with the C282Y mutation. We present a patient with PCT found to have underlying HH, homozygosity for the H63D mutation, and systemic complications of HH. Report of a case: A 44-year-old male, non-drinker, with diabetes mellitus type II presented with recurrent skin fragility of the hands for 2 years. Clinical and laboratory findings were consistent with PCT. Investigations for hepatitis B and C were negative. However, he did admit to an extensive intake of red meat and that several siblings also had PCT. Iron studies were consistent with hemochromatosis. There was an elevated transferrin (FE) saturation of 0.76 (0.20-0.55), a ferritin of 587 (20-400) g/L, and a serum iron of 37 (10-30) mol/L. Liver enzymes showed a mild transaminitis (ALT of 105 (\40) IU/L, and AST of 46 (\37) IU/L). An antinuclear antibody screen was negative. Polymerase chain reaction analysis from peripheral blood lymphocytes found that he was homozygous for the His63Asp (H63D) mutation of the HFE gene. Investigations for complications of HH revealed hypogonadotropic hypogonadism and cirrhosis of the liver with grade 1 esophageal varices. There was no evidence of hepatocellular carcinoma, cardiomyopathy, or thyroid function abnormalities. Initial treatment with phlebotomy every week reduced his ferritin to below 50 g/L by 6 months. Phlebotomy every 6 weeks was sufficient to maintain his ferritin at this level. Twelve months after presentation, his ferritin remains below 50 g/L and he remains free of skin lesions.
P2019 Renal cell carcinoma presenting on lower lip Marissa Newman, UMDNJ-Robert Wood Johnson Medical School, New Brunswick, NJ, United States; M. Alamgir, UMDNJ-Robert Wood Johnson Medical School, New Brunswick, NJ, United States; Babar Rao, MD, UMDNJRobert Wood Johnson Medical School, New Brunswick, NJ, United States
Conclusion: The H63D mutation has had questionable significance in the homozygous state, but as demonstrated by this patient, it can manifest with classic complications of hemochromatosis including porphyria cutanea tarda, diabetes, primary hypogonadism, and cirrhosis.
Renal cell carcinoma (RCC) is notorious for variable presentation and proclivity to metastasize early. We present a case of cutaneous metastases being the initial manifestation of occult RCC. A 69-year-old man presented with a skin colored, 8-mm nodule on his lower lip which was clinically thought to be a pyogenic granuloma, hemangioma, or condyloma. Biopsy of the lesion and subsequent histopathology revealed groups of polygonal cells containing abundant pale-staining, eosinophilic, finely granular cytoplasm, and enlarged hyperchromatic nuclei with prominent basophilic to eosinophilic nucleoli, consistent with clear cell type RCC. Cells reacted positively with immunostains for vimentin, CD10, keratins, AE1-AE3, cytokeratin 7 and epithelial membrane antigen. On follow-up, the patient was found to have systemic metastases and is undergoing chemotherapy. Approximately 30% to 40% of patients with RCC have evidence of distal metastases at the time of initial presentation, preferentially to the lung, bone, and/or liver, most frequently via hematogenous dissemination. Cutaneous metastases of RCC occur in 3% to 7% of cases and are moreover the presenting symptom in 10% to 20% of cases. Skin metastases correlate with advanced stages of renal cell carcinoma and systemic involvement. The 5-year survival rate with a solitary metastatic lesion is 13% to 50% versus 0% to 8% with multiple lesions. Palliative excision is recommended for single lesions, while chemotherapy may be appropriate for multiple lesions. Accordingly, expanding cutaneous nodules require a high index of suspicion and necessitate biopsy, because they can mimic more benign lesions.
Commercial support: None identified.
Commercial support: None identified.
FEBRUARY 2007
J AM ACAD DERMATOL
AB137