- Email: [email protected]
Primary systemic amyloidosis treated with autologous stem cell transplant and chemotherapy
P6594
P6347
Primary cutaneous endometriosis Jonathan Van Meter, MD, University of Louisville, Louisville, KY, United States; J. Michael Bernardi, MD, University of Louisville, Louisville, KY, United States; Janine Malone, MD, University of Louisville, Louisville, KY, United States Background: Cutaneous endometriosis is a rare event occurring in\5.5% of all cases of endometriosis. Most commonly, it occurs in scars after gynecologic surgery. When cutaneous endometriosis occurs in the absence of surgery, it is known as primary or spontaneous cutaneous endometriosis. Primary cutaneous endometriosis occurs in \30% of cutaneous endometriosis cases with the most common location being the umbilicus.
Primary systemic amyloidosis treated with autologous stem cell transplant and chemotherapy Aruni Ranasinghe, MBBS, MD, Cambridge University Teaching Hospitals NHS Foundation Trust, Cambridge, United Kingdom; Pamela Todd, MD, MEd, Department of Dermatology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; Victoria Bardsley, MD, Department of Dermatopathology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom Primary systemic amyloidosis (PSA) is a rare disorder that presents as a triad of carpal tunnel syndrome, macroglossia and mucocutaneous lesions. We describe a patient with unusual mucocutaneous manifestations of PSA, treated successfully with a bone marrow transplant and chemotherapy. A 56-year-old man presented to maxillofacial surgeons with buccal mucosal ulcers and purpuric lesions on the chin. He had surgery for bilateral carpal tunnel syndrome 4 years previously. A labial mucosal biopsy sent for immunofluorescence studies only was negative. The patient developed polyathritis and BenceeJones proteinuria. He was seen by haematologists and found to have markedly raised serum kappa free light-chains. Bone marrow biopsy revealed a primary plasma cell dyscrasia. He then presented to dermatology with focal purpuric lesions in the perioral area, macroglossia, conjunctival papules, dysphagia, and hoarseness. Biopsy of a chin lesion revealed pink amorphous material in the dermis consistent with amyloid, confirmed by positive Congo red stain and apple-green birefringence with polarised light. The labial mucosal biopsy sent for immunofluorescence was subsequently analysed and found to show congophilia. Based on these findings, a unifying diagnosis of PSA was made. A second bone marrow biopsy showed a low-grade lymphoplasmacytic lymphoma. There was no evidence of visceral organ involvement and SAP scintigraphy was negative. He was treated with CTD chemotherapy and an autologous stem cell transplant in July 2008. The macroglossia and conjunctival lesions resolved and his disease has stayed in remission for 4 years. PSA is caused by deposition of AL amyloid protein and mucocutaneous manifestations occur in up to 40% of cases. To our knowledge, perioral purpura and conjunctival lesions are rare cutaneous presentations. Although the overall prognosis of PSA is poor with an average survival of 14 months, there are occasional reports of successful treatment with autologous stem cell transplant and chemotherapy. Our case highlights the importance of awareness of purpura at unusual sites and conjunctival papules as manifestations of PSA. We also highlight the importance of appropriate histopathology and early intervention, as treatment of the associated hematologic disease process can result in successful remission of PSA. Dermatologists have a valuable opportunity for early diagnosis of PSA because the disease stage at time of treatment is a crucial prognostic factor.
Observation: A 30-year-old African American woman presented to our outpatient clinic with a 2-year history of pain and bleeding from a papule at the umbilicus. She denied any history of surgery, did not take any medications, and had never been pregnant. She was otherwise healthy. On physical examination, she had a mildly tender flesh colored papule at the umbilicus with a central depression. A shave biopsy was performed with electrodessication to the base for hemostasis. Histologic examination revealed endometrial glands and stroma in the mid to reticular dermis. After the biopsy, there was no recurrence of pain or bleeding for 2 months. Approximately 3 months after the biopsy, the patient started to have bleeding and tenderness with her menstrual cycle at the umbilicus. At the time of this writing, the patient is undecided if she wants further treatment. Conclusion: Primary cutaneous endometriosis is a rare event. When it occurs at the umbilicus it is known as a Villar nodule, named for the physician who first described it in 1886. The pathogenesis of primary cutaneous endometriosis is unknown. Hematogenous or lymphogenous metastases, retrograde menstruation, embryonic cell remnants, or a combination of the above have been proposed mechanisms. Surgery is the preferred treatment option. Commercial support: None identified.
Commercial support: None identified.
P7146 Randomized, double-blind, controlled pilot study of the efficacy and safety of microfocused ultrasound for the treatment of axillary hyperhidrosis Mark Nestor, MD, PhD, Aventura, FL, United States; Hyunhee Park, DO, Mark Steven Nestor, MD, PhD, Aventura, FL, United States Background: Objective of study was to evaluate the efficacy and safety of microfocused ultrasound (MFU) for treatment of primary axillary hyperhidrosis.
P6125 Primary cutaneous nodular amyloidosis: A case study and overview of systemic evaluation Jared Heaton, DO, Largo Medical Center, Largo, FL, United States Primary cutaneous amyloidosis refers to a group of disorders characterized by the deposition of amyloid in the skin without systemic involvement. Nodular amyloidosis is a rare variant recognized clinically by single or multiple waxy papules and nodules located on face, trunk, or extremities. While the more common macular and lichenoid forms of amyloid proteins are keratinocyte derived, the amyloid in the nodular form is produced by a localized infiltrate of plasma cells that synthesize immunoglobulin light chains. It is the only form of primary cutaneous amyloidosis in which the amyloid deposits are of the light chain (AL) subtype, the same subtype found in systemic amyloidosis associated with plasma cell dyscrasias and multiple myeloma associated amyloidosis. We present an interesting case of an 88-year-old man that presented to our clinic with waxy appearing flesh-colored to pink papules confined to the frontal scalp. A shave biopsy confirmed a pattern consistent with nodular amyloidosis. We present this case to emphasize both the clinical and histologic findings of a rare form of primary cutaneous amyloidosis. Because progression from nodular to systemic amyloidosis has been reported with varying frequency in the literature, we also highlight the importance of a thorough systemic evaluation and long term follow up care for these patients. Commercial support: None identified.
APRIL 2013
Methods: Active-treated subjects (N ¼ 12) received 2 treatments 28 days apart consisting of 240 lines each, using both 4 MHz-4.5 mm and 7 MHz-3.0 mm transducers, for a total of 480 lines per axilla. No energy was delivered during a similar treatment for sham-treated subjects (N ¼ 8). Both groups received pretreatment injections of lidocaine plus epinephrine. Efficacy at 7, 14, 30, 37, 44, 60, 90, and 120 days was measured by Hyperhidrosis Disease Severity Scale, gravimetric sweat production, and starch iodine test. The primary endpoint was response at 60 days, defined as HDSS score of 1 or 2 (inclusion criteria was score of 3 or 4). Adverse events were collected. Results: Average age 34 (range, 21-52), 30% female, 30% white, 50% Hispanic/Latino, 15% African American, and 5% Asian. At 60 days, the response rate in the active treatment group was 67%, a significant difference compared to 0% in the sham group (P ¼ .005). One hundred twenty days after the second treatment, 67% of subjects were still in response. Regardless of study visit, percent change from baseline in gravimetric measurement was significantly greater in the active treatment group than in the sham group (P \.0001). In the active treatment group, the greatest change from baseline was at the last time point, 120 days. No serious adverse events were reported. AEs were limited to mild and transient tenderness (2 subjects took a single dose of ibuprofen), edema, numbness, and bruising. Conclusion: Preliminary results suggest microfocused ultrasound appears to be efficacious for most subjects treated and safe for the treatment of axillary hyperhidrosis. Given the positive results of this study, additional work is being conducted to further develop and optimize this use. 100% is sponsored by Ulthera, Inc.
J AM ACAD DERMATOL
AB59
P6347
Primary cutaneous endometriosis Jonathan Van Meter, MD, University of Louisville, Louisville, KY, United States; J. Michael Bernardi, MD, University of Louisville, Louisville, KY, United States; Janine Malone, MD, University of Louisville, Louisville, KY, United States Background: Cutaneous endometriosis is a rare event occurring in\5.5% of all cases of endometriosis. Most commonly, it occurs in scars after gynecologic surgery. When cutaneous endometriosis occurs in the absence of surgery, it is known as primary or spontaneous cutaneous endometriosis. Primary cutaneous endometriosis occurs in \30% of cutaneous endometriosis cases with the most common location being the umbilicus.
Primary systemic amyloidosis treated with autologous stem cell transplant and chemotherapy Aruni Ranasinghe, MBBS, MD, Cambridge University Teaching Hospitals NHS Foundation Trust, Cambridge, United Kingdom; Pamela Todd, MD, MEd, Department of Dermatology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; Victoria Bardsley, MD, Department of Dermatopathology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom Primary systemic amyloidosis (PSA) is a rare disorder that presents as a triad of carpal tunnel syndrome, macroglossia and mucocutaneous lesions. We describe a patient with unusual mucocutaneous manifestations of PSA, treated successfully with a bone marrow transplant and chemotherapy. A 56-year-old man presented to maxillofacial surgeons with buccal mucosal ulcers and purpuric lesions on the chin. He had surgery for bilateral carpal tunnel syndrome 4 years previously. A labial mucosal biopsy sent for immunofluorescence studies only was negative. The patient developed polyathritis and BenceeJones proteinuria. He was seen by haematologists and found to have markedly raised serum kappa free light-chains. Bone marrow biopsy revealed a primary plasma cell dyscrasia. He then presented to dermatology with focal purpuric lesions in the perioral area, macroglossia, conjunctival papules, dysphagia, and hoarseness. Biopsy of a chin lesion revealed pink amorphous material in the dermis consistent with amyloid, confirmed by positive Congo red stain and apple-green birefringence with polarised light. The labial mucosal biopsy sent for immunofluorescence was subsequently analysed and found to show congophilia. Based on these findings, a unifying diagnosis of PSA was made. A second bone marrow biopsy showed a low-grade lymphoplasmacytic lymphoma. There was no evidence of visceral organ involvement and SAP scintigraphy was negative. He was treated with CTD chemotherapy and an autologous stem cell transplant in July 2008. The macroglossia and conjunctival lesions resolved and his disease has stayed in remission for 4 years. PSA is caused by deposition of AL amyloid protein and mucocutaneous manifestations occur in up to 40% of cases. To our knowledge, perioral purpura and conjunctival lesions are rare cutaneous presentations. Although the overall prognosis of PSA is poor with an average survival of 14 months, there are occasional reports of successful treatment with autologous stem cell transplant and chemotherapy. Our case highlights the importance of awareness of purpura at unusual sites and conjunctival papules as manifestations of PSA. We also highlight the importance of appropriate histopathology and early intervention, as treatment of the associated hematologic disease process can result in successful remission of PSA. Dermatologists have a valuable opportunity for early diagnosis of PSA because the disease stage at time of treatment is a crucial prognostic factor.
Observation: A 30-year-old African American woman presented to our outpatient clinic with a 2-year history of pain and bleeding from a papule at the umbilicus. She denied any history of surgery, did not take any medications, and had never been pregnant. She was otherwise healthy. On physical examination, she had a mildly tender flesh colored papule at the umbilicus with a central depression. A shave biopsy was performed with electrodessication to the base for hemostasis. Histologic examination revealed endometrial glands and stroma in the mid to reticular dermis. After the biopsy, there was no recurrence of pain or bleeding for 2 months. Approximately 3 months after the biopsy, the patient started to have bleeding and tenderness with her menstrual cycle at the umbilicus. At the time of this writing, the patient is undecided if she wants further treatment. Conclusion: Primary cutaneous endometriosis is a rare event. When it occurs at the umbilicus it is known as a Villar nodule, named for the physician who first described it in 1886. The pathogenesis of primary cutaneous endometriosis is unknown. Hematogenous or lymphogenous metastases, retrograde menstruation, embryonic cell remnants, or a combination of the above have been proposed mechanisms. Surgery is the preferred treatment option. Commercial support: None identified.
Commercial support: None identified.
P7146 Randomized, double-blind, controlled pilot study of the efficacy and safety of microfocused ultrasound for the treatment of axillary hyperhidrosis Mark Nestor, MD, PhD, Aventura, FL, United States; Hyunhee Park, DO, Mark Steven Nestor, MD, PhD, Aventura, FL, United States Background: Objective of study was to evaluate the efficacy and safety of microfocused ultrasound (MFU) for treatment of primary axillary hyperhidrosis.
P6125 Primary cutaneous nodular amyloidosis: A case study and overview of systemic evaluation Jared Heaton, DO, Largo Medical Center, Largo, FL, United States Primary cutaneous amyloidosis refers to a group of disorders characterized by the deposition of amyloid in the skin without systemic involvement. Nodular amyloidosis is a rare variant recognized clinically by single or multiple waxy papules and nodules located on face, trunk, or extremities. While the more common macular and lichenoid forms of amyloid proteins are keratinocyte derived, the amyloid in the nodular form is produced by a localized infiltrate of plasma cells that synthesize immunoglobulin light chains. It is the only form of primary cutaneous amyloidosis in which the amyloid deposits are of the light chain (AL) subtype, the same subtype found in systemic amyloidosis associated with plasma cell dyscrasias and multiple myeloma associated amyloidosis. We present an interesting case of an 88-year-old man that presented to our clinic with waxy appearing flesh-colored to pink papules confined to the frontal scalp. A shave biopsy confirmed a pattern consistent with nodular amyloidosis. We present this case to emphasize both the clinical and histologic findings of a rare form of primary cutaneous amyloidosis. Because progression from nodular to systemic amyloidosis has been reported with varying frequency in the literature, we also highlight the importance of a thorough systemic evaluation and long term follow up care for these patients. Commercial support: None identified.
APRIL 2013
Methods: Active-treated subjects (N ¼ 12) received 2 treatments 28 days apart consisting of 240 lines each, using both 4 MHz-4.5 mm and 7 MHz-3.0 mm transducers, for a total of 480 lines per axilla. No energy was delivered during a similar treatment for sham-treated subjects (N ¼ 8). Both groups received pretreatment injections of lidocaine plus epinephrine. Efficacy at 7, 14, 30, 37, 44, 60, 90, and 120 days was measured by Hyperhidrosis Disease Severity Scale, gravimetric sweat production, and starch iodine test. The primary endpoint was response at 60 days, defined as HDSS score of 1 or 2 (inclusion criteria was score of 3 or 4). Adverse events were collected. Results: Average age 34 (range, 21-52), 30% female, 30% white, 50% Hispanic/Latino, 15% African American, and 5% Asian. At 60 days, the response rate in the active treatment group was 67%, a significant difference compared to 0% in the sham group (P ¼ .005). One hundred twenty days after the second treatment, 67% of subjects were still in response. Regardless of study visit, percent change from baseline in gravimetric measurement was significantly greater in the active treatment group than in the sham group (P \.0001). In the active treatment group, the greatest change from baseline was at the last time point, 120 days. No serious adverse events were reported. AEs were limited to mild and transient tenderness (2 subjects took a single dose of ibuprofen), edema, numbness, and bruising. Conclusion: Preliminary results suggest microfocused ultrasound appears to be efficacious for most subjects treated and safe for the treatment of axillary hyperhidrosis. Given the positive results of this study, additional work is being conducted to further develop and optimize this use. 100% is sponsored by Ulthera, Inc.
J AM ACAD DERMATOL
AB59