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Reed syndrome: A case report and review of the literature with proposed guidelines for management
P1146
P1148
A case of chronic Sweet syndrome associated with chronic lymphocytic leukemia Abba Alkali, MD, Deparment of Dermatology, Broadgreen Hospital, Liverpool, Merseyside, United Kingdom; Clodagh King, MD, Department of Dermatology, Broadgreen Hospital, Liverpool, Merseyside, United Kingdom; Niamh Leonard, MD, Department of Histopathology, Royal Liverpool Hospital, Liverpool, Merseyside, United Kingdom Background: Sweet syndrome (SS), also known as acute febrile neutrophilic dermatosis, is a rare disorder characterized by fever, peripheral neutrophilic leucocytosis, the acute onset of erythematous skin lesions, and a neutrophilic infiltrate without evidence of vasculitis on skin histology. We present a patient with SS associated with chronic lymphocytic leukaemia (CLL). The SS presented in a chronic manner.
Scleredema presenting as unilateral periorbital edema Jin Young Jung, MD, Department of Dermatology and Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, South Korea; Dong Jin Ryu, MD, Department of Dermatology and Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, South Korea; Kee Yang Chung, MD, PhD, Department of Dermatology and Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, South Korea; Yeon Sook Kwon, MD, Department of Dermatology and Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, South Korea Scleredema is an unusual sclerotic disorder affecting the skin connective tissue with increased amounts of collagen and mucin. It is characterized clinically by symmetrical, diffuse, and nonpitting induration of the skin, usually involving the neck, shoulders, trunk, face, arms and, rarely, the buttocks and thighs. Its occurrence has been documented in association with infections, diabetes mellitus, paraproteinemia, multiple myeloma, and monoclonal gammopathy. We report a rare case of scleredema presenting as unilateral periorbital swelling. A 57-year-old male presented with a 1-year history of asymptomatic right periorbital swelling. He had no history of trauma, infection, or diabetes. The ophthalmologic evaluation, including imaging studies, was normal. Histologic examination showed thickening of the collagen bundles in the dermis. The collagen bundles were separated from one another by prominent clear spaces. These histologic features combined with the clinical features confirmed the diagnosis of scleredema. During the 2-year followup, the patient was treated with systemic and intralesional corticosteroids, colchicines, and minocycline. However, the clinical improvement was not maintained even after the treatments. The lesion of scleredema is still restricted to the only right periorbital area. Periorbital edematous swelling may be a clinical sign of a variety of disease processes, including bacterial, viral, fungal, or parasitic infections, sinusitis, trauma, angioedema, contact dermatitis, degenerative alterations, hypothyroidism, collagen vascular diseases, amyloidosis, lymphedema, and lymphoma. The typical clinicohistologic features of scleredema generally permit its differentiation from the other diseases. The rare clinical feature in scleredema presenting as periorbital edema may cause diagnostic confusion and delay proper treatments. We suggest that scleredema should be considered in the differential diagnosis of periorbital edema.
Observations: We describe a 70-year-old female with a 17-year history of CLL who presented in March 2008 with a 5-week history of lumpy skin lesions affecting her limbs and trunk. She had been on long-term low dose prednisolone for her CLL since August 2007. Examination revealed multiple erythematous nodules and papules on her trunk and limbs. A diagnostic biopsy revealed skin with epidermal acanthosis, parakeratosis, and crust formation with polymorphs. The underlying dermis showed a dense inflammatory infiltrate of lymphocytes, eosinophils, and polymorphs with no evidence of vasculitis, consistent with SS. Extensive investigations revealed no evidence of progression of her CLL. The cutaneous lesions quickly improved following high dose systemic corticosteroid therapy. Despite a slow tapering of the steroids, her skin flared, and she was commenced on long-term dapsone. Conclusions: We present this interesting case to highlight the association of SS with a hematologic malignancy and the chronic way in which the SS presented with skin nodules of relatively low-grade inflammation without the classical accompaniments of fever and a neutrophil leucocytosis. This unusual presentation may be explained by the long-term low dose prednisolone therapy for CLL. Close follow-up of this patient is desirable because of the possibility that the SS may herald an acceleration of the malignant process or the transformation of CLL to lymphoma. Commercial support: None identified.
Commercial support: None identified.
P1149 Reed syndrome: A case report and review of the literature with proposed guidelines for management Angela Kyei, Cleveland Clinic Foundation, Cleveland, OH, United States; Apra Sood, MD, Cleveland Clinic Foundation, Cleveland, OH, United States; Laszlo Karai, MD, PhD, Cleveland Clinic Foundation, Cleveland, OH, United States; Melissa Piliang, MD, Cleveland Clinic Foundation, Cleveland, OH, United States
P1147 Chronic ulcerated plasma cell mucositis: Response to 0.1% tacrolimus ointment Kathleen Garvey, MD, Mayo Clinic Jacksonville, Jacksonville, FL, United States; Jason Sluzevich, MD, Mayo Clinic Jacksonville, Jacksonville, FL, United States Plasma cell mucositis is a rare, idiopathic disorder of mucous membranes. Oral cavity involvement is pleomorphic and may manifest as painful erythematous patches to friable plaques. Histologicly, a polyclonal infiltrate of mature plasma cells in the underlying lamina propria is present. Treatment is difficult, because topical, intralesional, and systemic corticosteroids are frequently reported to be ineffective. A 21-year- old male was referred for a 2-year history of a progressive, infiltrative, centrally ulcerating eruption on the lower mucosal lip. Tissue culture, polymerase chain reaction studies for herpes simplex virus, enzyme-linked immunosorbent assay for desmoglein 1 and 3 antibodies, and hepatitis C antibodies were negative. A 4-mm punch biopsy revealed a dense, polyclonal superficial lymphoplasmacytic infiltrate extending into the reticular dermis. A diagnosis of plasma cell cheilitis was rendered. Because previous treatment with systemic and class I topical corticosteroids was unsuccessful, the patient was started on tacrolimus 0.1% ointment twice daily. The central ulceration cleared in 8 weeks and the lower lip swelling was significantly reduced. Three attempts to discontinue the tacrolimus 0.1% ointment resulted in rebound flaring and ulceration consistent with an immunomodulatory doseeresponse relationship. The clinical behavior of this patient suggests that tacrolimus 0.1% ointment is useful in the long-term management of plasma cell mucositis, especially in circumstances in which corticosteroids fail. This is the first and only report of topical tacrolimus used for this rare and often treatment refractory condition. Commercial support: None identified.
MARCH 2009
Introduction: Reed syndrome or familial leiomyomatosis cutis et uteri is a rare syndrome characterized by painful cutaneous leiomyomas and uterine fibroids. A variant of this syndrome is associated with renal cell carcinoma and is termed hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome. The pathogenesis of this condition has recently been linked to a loss of function mutation in the gene encoding fumarate hydratase on chromosome 1q42.3-43, an enzyme that catalyzes the conversion of fumarate to malate in the Kreb cycle but also functions as a tumor suppressor gene. We report a case involving a 74-year-old female and her daughter and we review the histopathologic findings and treatment options. Given the lack of established guidelines for the evaluation of Reed syndrome, we propose an algorithm for the evaluation and management. History: The proband is a 74-year-old Middle Eastern female who developed multiple painful skin leiomyomas on her upper back several years after having a hysterectomy for uterine fibroids. Her 45-year-old daughter also has cutaneous leiomyomas and uterine fibroids treated with a hysterectomy. In addition, the proband’s daughter and two grandchildren all have renal cysts. A physical examination of the proband revealed firm, smooth, brown, tender grouped papules on her upper back. Her daughter had similar lesions on her face. Laboratory examinations, including a complete blood cell count, comprehensive metabolic panel, and lipid panel were within normal limits. Histopathology revealed a proliferation of smooth muscle fascicles consistent with a diagnosis of cutaneous leiomyomas. The family was referred for genetic counseling. Discussion: Multiple cutaneous and uterine liomyomas or Reed syndrome is an autosomal dominant condition characterized by cutaneous smooth muscle tumors and uterine fibroids. Patients with this syndrome must be carefully monitored for the development of renal cell carcinoma. The literature, however, lacks specific guidelines for the management of these patients. We propose an algorithm for the evaluation and management based on a literature review. Commercial support: None identified.
J AM ACAD DERMATOL
AB51
P1148
A case of chronic Sweet syndrome associated with chronic lymphocytic leukemia Abba Alkali, MD, Deparment of Dermatology, Broadgreen Hospital, Liverpool, Merseyside, United Kingdom; Clodagh King, MD, Department of Dermatology, Broadgreen Hospital, Liverpool, Merseyside, United Kingdom; Niamh Leonard, MD, Department of Histopathology, Royal Liverpool Hospital, Liverpool, Merseyside, United Kingdom Background: Sweet syndrome (SS), also known as acute febrile neutrophilic dermatosis, is a rare disorder characterized by fever, peripheral neutrophilic leucocytosis, the acute onset of erythematous skin lesions, and a neutrophilic infiltrate without evidence of vasculitis on skin histology. We present a patient with SS associated with chronic lymphocytic leukaemia (CLL). The SS presented in a chronic manner.
Scleredema presenting as unilateral periorbital edema Jin Young Jung, MD, Department of Dermatology and Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, South Korea; Dong Jin Ryu, MD, Department of Dermatology and Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, South Korea; Kee Yang Chung, MD, PhD, Department of Dermatology and Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, South Korea; Yeon Sook Kwon, MD, Department of Dermatology and Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, South Korea Scleredema is an unusual sclerotic disorder affecting the skin connective tissue with increased amounts of collagen and mucin. It is characterized clinically by symmetrical, diffuse, and nonpitting induration of the skin, usually involving the neck, shoulders, trunk, face, arms and, rarely, the buttocks and thighs. Its occurrence has been documented in association with infections, diabetes mellitus, paraproteinemia, multiple myeloma, and monoclonal gammopathy. We report a rare case of scleredema presenting as unilateral periorbital swelling. A 57-year-old male presented with a 1-year history of asymptomatic right periorbital swelling. He had no history of trauma, infection, or diabetes. The ophthalmologic evaluation, including imaging studies, was normal. Histologic examination showed thickening of the collagen bundles in the dermis. The collagen bundles were separated from one another by prominent clear spaces. These histologic features combined with the clinical features confirmed the diagnosis of scleredema. During the 2-year followup, the patient was treated with systemic and intralesional corticosteroids, colchicines, and minocycline. However, the clinical improvement was not maintained even after the treatments. The lesion of scleredema is still restricted to the only right periorbital area. Periorbital edematous swelling may be a clinical sign of a variety of disease processes, including bacterial, viral, fungal, or parasitic infections, sinusitis, trauma, angioedema, contact dermatitis, degenerative alterations, hypothyroidism, collagen vascular diseases, amyloidosis, lymphedema, and lymphoma. The typical clinicohistologic features of scleredema generally permit its differentiation from the other diseases. The rare clinical feature in scleredema presenting as periorbital edema may cause diagnostic confusion and delay proper treatments. We suggest that scleredema should be considered in the differential diagnosis of periorbital edema.
Observations: We describe a 70-year-old female with a 17-year history of CLL who presented in March 2008 with a 5-week history of lumpy skin lesions affecting her limbs and trunk. She had been on long-term low dose prednisolone for her CLL since August 2007. Examination revealed multiple erythematous nodules and papules on her trunk and limbs. A diagnostic biopsy revealed skin with epidermal acanthosis, parakeratosis, and crust formation with polymorphs. The underlying dermis showed a dense inflammatory infiltrate of lymphocytes, eosinophils, and polymorphs with no evidence of vasculitis, consistent with SS. Extensive investigations revealed no evidence of progression of her CLL. The cutaneous lesions quickly improved following high dose systemic corticosteroid therapy. Despite a slow tapering of the steroids, her skin flared, and she was commenced on long-term dapsone. Conclusions: We present this interesting case to highlight the association of SS with a hematologic malignancy and the chronic way in which the SS presented with skin nodules of relatively low-grade inflammation without the classical accompaniments of fever and a neutrophil leucocytosis. This unusual presentation may be explained by the long-term low dose prednisolone therapy for CLL. Close follow-up of this patient is desirable because of the possibility that the SS may herald an acceleration of the malignant process or the transformation of CLL to lymphoma. Commercial support: None identified.
Commercial support: None identified.
P1149 Reed syndrome: A case report and review of the literature with proposed guidelines for management Angela Kyei, Cleveland Clinic Foundation, Cleveland, OH, United States; Apra Sood, MD, Cleveland Clinic Foundation, Cleveland, OH, United States; Laszlo Karai, MD, PhD, Cleveland Clinic Foundation, Cleveland, OH, United States; Melissa Piliang, MD, Cleveland Clinic Foundation, Cleveland, OH, United States
P1147 Chronic ulcerated plasma cell mucositis: Response to 0.1% tacrolimus ointment Kathleen Garvey, MD, Mayo Clinic Jacksonville, Jacksonville, FL, United States; Jason Sluzevich, MD, Mayo Clinic Jacksonville, Jacksonville, FL, United States Plasma cell mucositis is a rare, idiopathic disorder of mucous membranes. Oral cavity involvement is pleomorphic and may manifest as painful erythematous patches to friable plaques. Histologicly, a polyclonal infiltrate of mature plasma cells in the underlying lamina propria is present. Treatment is difficult, because topical, intralesional, and systemic corticosteroids are frequently reported to be ineffective. A 21-year- old male was referred for a 2-year history of a progressive, infiltrative, centrally ulcerating eruption on the lower mucosal lip. Tissue culture, polymerase chain reaction studies for herpes simplex virus, enzyme-linked immunosorbent assay for desmoglein 1 and 3 antibodies, and hepatitis C antibodies were negative. A 4-mm punch biopsy revealed a dense, polyclonal superficial lymphoplasmacytic infiltrate extending into the reticular dermis. A diagnosis of plasma cell cheilitis was rendered. Because previous treatment with systemic and class I topical corticosteroids was unsuccessful, the patient was started on tacrolimus 0.1% ointment twice daily. The central ulceration cleared in 8 weeks and the lower lip swelling was significantly reduced. Three attempts to discontinue the tacrolimus 0.1% ointment resulted in rebound flaring and ulceration consistent with an immunomodulatory doseeresponse relationship. The clinical behavior of this patient suggests that tacrolimus 0.1% ointment is useful in the long-term management of plasma cell mucositis, especially in circumstances in which corticosteroids fail. This is the first and only report of topical tacrolimus used for this rare and often treatment refractory condition. Commercial support: None identified.
MARCH 2009
Introduction: Reed syndrome or familial leiomyomatosis cutis et uteri is a rare syndrome characterized by painful cutaneous leiomyomas and uterine fibroids. A variant of this syndrome is associated with renal cell carcinoma and is termed hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome. The pathogenesis of this condition has recently been linked to a loss of function mutation in the gene encoding fumarate hydratase on chromosome 1q42.3-43, an enzyme that catalyzes the conversion of fumarate to malate in the Kreb cycle but also functions as a tumor suppressor gene. We report a case involving a 74-year-old female and her daughter and we review the histopathologic findings and treatment options. Given the lack of established guidelines for the evaluation of Reed syndrome, we propose an algorithm for the evaluation and management. History: The proband is a 74-year-old Middle Eastern female who developed multiple painful skin leiomyomas on her upper back several years after having a hysterectomy for uterine fibroids. Her 45-year-old daughter also has cutaneous leiomyomas and uterine fibroids treated with a hysterectomy. In addition, the proband’s daughter and two grandchildren all have renal cysts. A physical examination of the proband revealed firm, smooth, brown, tender grouped papules on her upper back. Her daughter had similar lesions on her face. Laboratory examinations, including a complete blood cell count, comprehensive metabolic panel, and lipid panel were within normal limits. Histopathology revealed a proliferation of smooth muscle fascicles consistent with a diagnosis of cutaneous leiomyomas. The family was referred for genetic counseling. Discussion: Multiple cutaneous and uterine liomyomas or Reed syndrome is an autosomal dominant condition characterized by cutaneous smooth muscle tumors and uterine fibroids. Patients with this syndrome must be carefully monitored for the development of renal cell carcinoma. The literature, however, lacks specific guidelines for the management of these patients. We propose an algorithm for the evaluation and management based on a literature review. Commercial support: None identified.
J AM ACAD DERMATOL
AB51