- Email: [email protected]
Hereditary cutaneous mastocytosis
P1186
P1188
Aluminum chloride hexahydrate 15% in a salicylic acid 2% gel: Combination therapy with botulinum toxin A for moderate to severe hyperhidrosis Heather Woolery-Lloyd, Miller/University of Miami School of Medicine, Department of Dermatology and Cutaneous Surgery, Miami Beach, FL, United States
Osteoma cutis arising in chronic granulomatous dermatitis Melissa Stenstrom, University of WisconsineMadison, Madison, WI, United States; Erin Vanness, MD, University of WisconsineMadison, Madison, WI, United States; Molly Hinshaw, MD, University of WisconsineMadison, Madison, WI, United States
Hyperhidrosis is a common condition that has a tremendous impact on the quality of life of affected patients. For moderate to severe hyperhidrosis, aluminum chloride hexahydrate (AC), iontophoresis, and botulinum toxin A are first-line therapies. Botulinum toxin A has been a useful addition to the hyperhidrosis armamentarium and is typically used when patients have failed topical therapy. Although highly effective for most patients, there remains a subset of patients that do not completely respond to botulinum toxin A injections. For these patients, combination therapy with AC can greatly improve patient response. Topical AC is a well established therapy for hyperhidrosis. The mechanism of action is via aluminum salt blockage of the distal acrosyringium which leads to functional and structural degeneration of the eccrine acini. Most AC solutions are in an anhydrous alcohol vehicle which appears to significantly contribute to irritation. Combination therapy with AC may have been underused in the past because of concerns of irritation. AC in a salicylic acid gel appears to offer improved tolerability without compromising efficacy. We present a series of 10 hyperhidrosis patients with a history of partial response to botulinum toxin monotherapy. These patients achieved good to excellent results with the addition of AC 15% in a salicylic acid 2% gel. Combination therapy with topical AC in a salicylic acid gel should be considered in patients with a less than optimal response to botulinum toxin. In addition, this therapy can be useful in any patient treated with botulinum toxin A for breakthrough sweating at the end of the treatment cycle. AC in a salicylic acid gel offers a novel and effective topical therapy in combination with botulinum toxin A for patients with moderate to severe hyperhidrosis.
Osteoma cutis represents the process in which bone is formed within the dermis and subcutaneous tissues. The condition is characterized as primary or secondary based on the absence or presence of preceding lesions. Primary osteoma cutis has been associated with endocrinopathies, including pseudohypoparathyroidism, while secondary osteoma cutis is associated with both inflammatory disorders, most commonly acne vulgaris, and also within cutaneous neoplasms. We report a unique presentation of diffuse osteoma cutis in areas of previous granulomatous dermatitis developing in a patient with elevated parathyroid hormone subsequent to renal transplantation, and include discussions of both primary and secondary etiologies.
Commercial support: 100% sponsored by Valeo Pharma.
P1187 Aluminum chloride 15% a hexahydrate in a salicylic acid 2% gel: A novel topical agent for hyperhidrosis with decreased irritation Heather Woolery-Lloyd, University of Miami School of Medicine, Miami Beach, FL, United States Hyperhidrosis is a common condition that has a tremendous impact on the quality of life of affected patients. Aluminum chloride hexahydrate (AC) is considered first-line therapy for mild to moderate patients. The mechanism of action is via aluminum salt blockage of the distal acrosyringium which leads to functional and structural degeneration of the eccrine acini. Although many studies have demonstrated significant efficacy with topical AC, formulations of AC in an alcohol solution have been limited by patient tolerance. Observations from a busy hyperhidrosis practice revealed decreased irritation and increased efficacy with a novel therapy that combines AC 15% with salicylic acid 2% in a gel base. This combination of AC 15% with salicylic acid 2% offers patients who have failed AC in the past good efficacy with minimal irritation. There are many possible reasons for the improved efficacy and decreased irritation observed with the combination formula. The keratolytic properties of salicylic acid may enhance absorption of the AC. Salicylic acid has antiperspirant properties of its own which may act synergistically with the AC. The gel formulation may improve hydration and mitigate the drying effect when compared to an alcohol solution. Finally, improved tolerability could contribute to patient compliance and, therefore, efficacy. We report three cases of patients with a history of severe irritation from AC solution who maintained excellent results with this new topical without significant irritation. AC 15% in a salicylic acid 2% gel may be an ideal monotherapy for mild hyperhidrosis and adjunctive therapy for those with severe disease. Further studies will be helpful to clarify the role of AC 15% in a salicylic acid 2% gel as a novel addition to our current hyperhidrosis armamentarium. Commercial support: 100% sponsored by Valeo Pharma.
MARCH 2009
Commercial support: None identified.
P1189 Hereditary cutaneous mastocytosis Nicole Fett, MD, University of Wisconsin Hospital and Clinics Department of Dermatology, Madison, WI, United States; Jack Longley, MD, University of Wisconsin Hospital and Clinics Department of Dermatology, Madison, WI, United States; Joyce Teng, MD, University of Wisconsin Hospital and Clinics Department of Dermatology, Madison, WI, United States A 3-year-old female and a 2-year-old male presented to our clinic with their father. The female child was born with multiple light brown urticating papules that have increased in number over the last 6 months. She has intermittent problems with loose stools and flushing, but does not have problems with swallowing, syncope, wheezing, or irritability. Her brother presented with a brown urticating macule on his back at 10 months of age. He also has problems with loose stools, but does not have problems with wheezing, flushing, syncope, swallowing, or irritability. The patients are the only two children of a 33-year-old male who was diagnosed with cutaneous mastocytosis at 3 years of age. The patients’ father presented with erythematous urticating papules on his scalp in early childhood. He later formed similar confluent lesions over his chest, abdomen, and bilateral flanks that have persisted into adulthood. He reports multiple near-syncopal episodes throughout his life at times of incidental rubbing of these lesions. He has loose stools occasionally, but does not have problems with swallowing, wheezing, or flushing. The physical examination revealed a 3-year-old healthy appearing female with multiple flesh colored to brown papules scattered over her extremities, trunk, and along her hairline with positive Darier sign and a 2-year-old healthy appearing male with a 3-mm 3 4-mm brown macule on his right upper back with a positive Darier sign. Molecular testing of the skin biopsy specimens and oral mucosa swabs were negative for mutations in exons 11, 17, 8, and 10. A histologic examination revealed sheets of mast cells, and a diagnosis of hereditary cutaneous mastocytosis was given. Mastocytosis is a group of heterogeneous disorders with cutaneous and systemic manifestations caused by mast cell infiltration. Mastocytosis most frequently occurs in the skin with a variety of clinical presentations: urticaria pigmentosa, mastocytomas, diffuse and erythrodermic disease, and telangiectasia macularis eruptiva perstans. Systemic mastocytosis often involves the bone marrow, liver, spleen, and gastrointestinal tract, and is associated with peripheral eosinophilia. Patients with systemic manifestations of mastocytosis rarely develop mast cell leukemia. The most frequent presentation of mastocytosis is that of a self-limited, sporadic, disease of childhood. However, to date there are approximately 50 families in the literature with a hereditary form of mastocytosis. Mast cells express CD34 and the KIT tyrosine kinase. KIT is the product of the protooncogene c-kit located on chromosome 4 and belongs to the type III receptor tyrosine kinase subfamily. Activation of KIT results in mast cell proliferation. In 1993, two heterozygous activating mutations in the cytoplasmic domain of KIT (D816V or V560G) were identified in a human mast cell line. To date, almost all sporadic adult cases of mastocytosis have been found to carry the D816V mutation. The D816V mutation is not commonly found in sporadic childhood cases. A subset of patients with systemic mastocytosis and increased numbers of eosinophils express a fusion gene composed of the FIP1L1 gene promoter and the PDGFR gene coding region. In these patients, FIP1L1 gene promoter causes over expression and subsequent autoactivation of the PDGFR kinase, which is very similar to the KIT kinase. Whether these patients have mastocytosis with eosinophilia or eosinophilic leukemia with increased mast cells is controversial. In contrast to sporadic mastocytosis, some familial cases of mastocytosis have been found to have germ line mutation disrupting an inhibitory region of KIT, like the V560G mutation. These families may also have an increased risk of developing gastrointestinal stromal tumors (GISTs), which may be fatal. GISTs are caused by overactivation of KIT in the cells of the gut autonomic nervous system. Familial mastocytosis is generally inherited in an autosomal dominant pattern with incomplete penetrance. The majority of patients with familial mastocytosis do not have a c-KIT mutation. Familial mastocytosis has been reported to manifest as cutaneous lesions only, or cutaneous lesions with increased incidence of GISTs. Familial GISTs are rare, autosomal dominant genetic disorders with known germline c-KIT mutations in exons 11, 13, or 17. Recently, a novel germline KIT mutation in exon 8, which results in the deletion of codon 419 in the extracellular portion of KIT, has been described in a family with both hereditary mastocytosis and familial GISTs. Current therapy is aimed at symptom control with antihistamines, topical corticosteroids, phototherapy, cromolyn sodium, Epi-Pens for emergencies, and trigger avoidance. Imatinib, a tyrosine kinase inhibitor that targets Bcl-Abl, plateletderived growth factor receptor (PDGFR)-alfa and -beta, and KIT has been used in treatment of mast cell disease, but has only proven effective in familial patients or sporadic patients with the FIP1L1/PDGFR fusion gene and eosinophilia. Patients with sporadic mastocytosis and D816V mutations affecting the KIT kinase site do not respond to imatinib because of conformational changes of the drug’s binding site. Patients with familial mastocytosis and c-KIT mutations, however, have normal
J AM ACAD DERMATOL
AB61
kinase binding sites and may respond to imatinib or other KIT kinase inhibitors. In those families with mutations that put them at high risk for GIST, close surveillance is recommended. However, the best modality of surveillance has yet to be agreed upon. At this time, computed tomographic scanning with both oral and intravenous contrast is likely the most sensitive modality for the detection of GISTs. Commercial support: None identified.
P1190 Skin compatibility and sun protection efficacy of adjunctive usage of photostable sunscreens with a prescription triple combination cream for the treatment of melasma Theresa Chen, Johnson & Johnson CPPW, Los Angeles, CA, United States; Jared Fantasia, MS, Johnson & Johnson CPPW, Skillman, NJ, United States; Warren Wallo, MS, Johnson & Johnson CPPW, Skillman, NJ, United States; Yohini Appa, PhD, Johnson & Johnson CPPW, Los Angeles, CA, United States In patients with melanocompetent skin, hyperpigmentation is a major concern. Uneven pigmentation often occurs during aging. Melasma refers to acquired hypermelanotic macules that appear in centrofacial, malar, and mandibular patterns. Melasma occurs in 50% to 70% of pregnancies and can worsen significantly in size and intensity under the sun. Therefore, it is important for clinicians who treat patients with melasma to identify adjuctive products that are clinically proven to be compatible with their prescribed treatment and provide adequate protection against sun exposure. A randomized, double-blind clinical study was conducted to evaluate the safety and efficacy of several photostable sunscreen products when used in conjuction with a prescription triple combination cream for reducing melasma in melanocompetent skin. Cells of 25 patients were completed for each regimen tested. An untreated control was also included. The sunscreens were applied once a day before sun exposure and the prescription triple combination cream was applied in the evening. Skin compatibility and sun protection efficacy were determined by expert grading, instrumental measurement, subject selfassessments, and digital photography at baseline and at weeks 2, 4, and 8. Clinical parameters included Melasma Area Severity Index and global severity of melasma, as well as photoaging parameters. Digital photography documented global facial improvement. Subject self-assessments included improvements in melasma and skin tone. This clinical study demonstrated that concomitant use of the test sunscreens is safe and compatible with in the treatment of patients with melasma.
P1192 Preliminary results of the elaboration of a new instrument to evaluate quality of life in patients with cellulite: CELLUQOL Doris Hexsel, Brazilian Center for Studies in Dermatology, Porto Alegre, RS, Brazil; Juliana Fonte de Souza, MD, Brazilian Center for Studies in Dermatology, Porto Alegre, RS, Brazil; Magda Weber, MD, MS, Brazilian Center for Studies in Dermatology, Porto Alegre, RS, Brazil; Maria Laura Taborda, MD, Brazilian Center for Studies in Dermatology, Porto Alegre, RS, Brazil Background: Quality of life (QOL) evaluation is very important in clinical research and patient care, because they usually present concerns regarding diseases or conditions. The development of questionnaires to evaluate disease or the condition’s impact in patients’ lives also provides physicians with a better understanding of the way a disease or a condition may physically, psychologically, and socially affect their patients. Almost all women have or believe they have cellulite. Up to the present time, no study on the QOL of those affected by cellulite has been published. Objective: To develop and validate a new instrument to evaluate the QOL of patients with cellulite. Methods: A qualitative study was conducted with 50 healthy female volunteers between 18 and 45 years of age with various degrees of cellulite in the buttocks and thighs. They answered an open question about how the cellulite affects their QOL. Results: From a preliminary analysis of the questions answered by the volunteers, the factors and situations that are influenced by the presence of cellulites were as follows: (1) patients usually do not use white and beach clothes—they prefer to use black ones (90%); (2) they dislike walking in the beach without wearing beach jackets (56%); (3) cellulite bothers and constraint the patients (38%); (4) they are afraid about their husbands watching their condition (36%) and have feelings of bad self-esteem (20%); (5) patients refuse to engage in leisure activities that could be constraining for them (18%); and (6) they usually feel bad about themselves because in spite of good good nutritional habits, they still have cellulite (14%). Other situations were related, although in a lower percentage of respondents. We could establish the main domains that are related to cellulite QOL that are: clothing manners, leisure, physical activities, husband relationship, feelings, and changes in daily habits. All these factors were listed in a new questionnaire called CelluQoL that will be be applied in a statistically significant number of patients in the second phase of this study. Conclusion: Cellulite causes a real impact on the QOL of patients and restricts those who suffer from this condition in everyday situations and activities. The development of a validated questionnaire to evaluate the QOL (CelluQoL) in these patients will allow physicians to understand the impact of this frequent condition in the affected women and to evaluate the impact and the need of new treatments for cellulite. Commercial support: None identified.
Commercial support: 100% sponsored by Johnson & Johnson Consumer Products Companies Worldwide.
P1191 Enterophatic acrodermatitis diagnosed in adulthood Mo´nica Gaviria, MD, Universidad Pontificia Bolivariana, Medellı´n, Antioquia, Colombia; Ana Rivas, MD, Clı´nica Universitaria Bolivariana, Medellı´n, Antioquia, Colombia; Marı´a Trujillo, MD, Clı´nica Universitaria Bolivariana, Medellı´n, Antioquia, Colombia A 31-year-old male patient who was a resident of Itagu ı Antioquia, Colombia; ¨´, married, without children; employee. His medical history was significant for dermatosis in childhood and retardation in the cure of wounds. He did not have history of diarrhea, alchoholism, weight loss, Crohn disease, or parenteral nutrition. He was previously treated by the dermatology department with topical ointments without improvement with diagnosis of psoriasis and contact dermatitis. The skin biopsy had enlarged epidermis and abundant vesicles at different levels and in mononuclear infiltrated dermis with dilated vessels. He presented exacerbation of the dermatologic affection with erythematous and macerated plaques around the natural orifices and in acral portions and extensors of limbs. Because of his clinical condition, an HIV enzyme-linked immunosorbent assay was ordered with negative result. Seric levels of zinc were measured and their values were initially (July 2006) 388 g/L, and then 511 g/L (August 2006), with reference values of 600 to 1200 g/L, where the deficiency is evidenced. Treatment was initiated with oral supplement of zinc sulphate with dramatic clinical response. Commercial support: None identified.
AB62
J AM ACAD DERMATOL
P1193 Development of pyoderma gangrenosum during therapy with infliximab for ulcerative colitis: A case report ´ n Uribe, Medellin, Antioquia, Colombia; Juan Natalia Jaimes, Hospital Pablo Tobo E. Arroyave, MD, Hospital Pablo Tobo´n Uribe, Medellin, Antioquia, Colombia; Luz ´ n Uribe, Medellin, Antioquia, Colombia; A. Vasquez, MD, Hospital Pablo Tobo ´ n Uribe, Medellin, Antioquia, Veronica Molina, MD, Hospital Pablo Tobo Colombia Pyoderma gangrenosum (PG) is a rare inflammatory disease of unknown etiology and a poorly understood pathogenesis. Its clinical presentation is variable, and a large percentage of cases are associated with inflammatory bowel disease. Although there are cases demonstrating the efficacy of antietumore necrosis factor therapy for PG, we present the case of a patient with ulcerative colitis who developed PG during therapy with infliximab. Commercial support: None identified.
MARCH 2009
P1188
Aluminum chloride hexahydrate 15% in a salicylic acid 2% gel: Combination therapy with botulinum toxin A for moderate to severe hyperhidrosis Heather Woolery-Lloyd, Miller/University of Miami School of Medicine, Department of Dermatology and Cutaneous Surgery, Miami Beach, FL, United States
Osteoma cutis arising in chronic granulomatous dermatitis Melissa Stenstrom, University of WisconsineMadison, Madison, WI, United States; Erin Vanness, MD, University of WisconsineMadison, Madison, WI, United States; Molly Hinshaw, MD, University of WisconsineMadison, Madison, WI, United States
Hyperhidrosis is a common condition that has a tremendous impact on the quality of life of affected patients. For moderate to severe hyperhidrosis, aluminum chloride hexahydrate (AC), iontophoresis, and botulinum toxin A are first-line therapies. Botulinum toxin A has been a useful addition to the hyperhidrosis armamentarium and is typically used when patients have failed topical therapy. Although highly effective for most patients, there remains a subset of patients that do not completely respond to botulinum toxin A injections. For these patients, combination therapy with AC can greatly improve patient response. Topical AC is a well established therapy for hyperhidrosis. The mechanism of action is via aluminum salt blockage of the distal acrosyringium which leads to functional and structural degeneration of the eccrine acini. Most AC solutions are in an anhydrous alcohol vehicle which appears to significantly contribute to irritation. Combination therapy with AC may have been underused in the past because of concerns of irritation. AC in a salicylic acid gel appears to offer improved tolerability without compromising efficacy. We present a series of 10 hyperhidrosis patients with a history of partial response to botulinum toxin monotherapy. These patients achieved good to excellent results with the addition of AC 15% in a salicylic acid 2% gel. Combination therapy with topical AC in a salicylic acid gel should be considered in patients with a less than optimal response to botulinum toxin. In addition, this therapy can be useful in any patient treated with botulinum toxin A for breakthrough sweating at the end of the treatment cycle. AC in a salicylic acid gel offers a novel and effective topical therapy in combination with botulinum toxin A for patients with moderate to severe hyperhidrosis.
Osteoma cutis represents the process in which bone is formed within the dermis and subcutaneous tissues. The condition is characterized as primary or secondary based on the absence or presence of preceding lesions. Primary osteoma cutis has been associated with endocrinopathies, including pseudohypoparathyroidism, while secondary osteoma cutis is associated with both inflammatory disorders, most commonly acne vulgaris, and also within cutaneous neoplasms. We report a unique presentation of diffuse osteoma cutis in areas of previous granulomatous dermatitis developing in a patient with elevated parathyroid hormone subsequent to renal transplantation, and include discussions of both primary and secondary etiologies.
Commercial support: 100% sponsored by Valeo Pharma.
P1187 Aluminum chloride 15% a hexahydrate in a salicylic acid 2% gel: A novel topical agent for hyperhidrosis with decreased irritation Heather Woolery-Lloyd, University of Miami School of Medicine, Miami Beach, FL, United States Hyperhidrosis is a common condition that has a tremendous impact on the quality of life of affected patients. Aluminum chloride hexahydrate (AC) is considered first-line therapy for mild to moderate patients. The mechanism of action is via aluminum salt blockage of the distal acrosyringium which leads to functional and structural degeneration of the eccrine acini. Although many studies have demonstrated significant efficacy with topical AC, formulations of AC in an alcohol solution have been limited by patient tolerance. Observations from a busy hyperhidrosis practice revealed decreased irritation and increased efficacy with a novel therapy that combines AC 15% with salicylic acid 2% in a gel base. This combination of AC 15% with salicylic acid 2% offers patients who have failed AC in the past good efficacy with minimal irritation. There are many possible reasons for the improved efficacy and decreased irritation observed with the combination formula. The keratolytic properties of salicylic acid may enhance absorption of the AC. Salicylic acid has antiperspirant properties of its own which may act synergistically with the AC. The gel formulation may improve hydration and mitigate the drying effect when compared to an alcohol solution. Finally, improved tolerability could contribute to patient compliance and, therefore, efficacy. We report three cases of patients with a history of severe irritation from AC solution who maintained excellent results with this new topical without significant irritation. AC 15% in a salicylic acid 2% gel may be an ideal monotherapy for mild hyperhidrosis and adjunctive therapy for those with severe disease. Further studies will be helpful to clarify the role of AC 15% in a salicylic acid 2% gel as a novel addition to our current hyperhidrosis armamentarium. Commercial support: 100% sponsored by Valeo Pharma.
MARCH 2009
Commercial support: None identified.
P1189 Hereditary cutaneous mastocytosis Nicole Fett, MD, University of Wisconsin Hospital and Clinics Department of Dermatology, Madison, WI, United States; Jack Longley, MD, University of Wisconsin Hospital and Clinics Department of Dermatology, Madison, WI, United States; Joyce Teng, MD, University of Wisconsin Hospital and Clinics Department of Dermatology, Madison, WI, United States A 3-year-old female and a 2-year-old male presented to our clinic with their father. The female child was born with multiple light brown urticating papules that have increased in number over the last 6 months. She has intermittent problems with loose stools and flushing, but does not have problems with swallowing, syncope, wheezing, or irritability. Her brother presented with a brown urticating macule on his back at 10 months of age. He also has problems with loose stools, but does not have problems with wheezing, flushing, syncope, swallowing, or irritability. The patients are the only two children of a 33-year-old male who was diagnosed with cutaneous mastocytosis at 3 years of age. The patients’ father presented with erythematous urticating papules on his scalp in early childhood. He later formed similar confluent lesions over his chest, abdomen, and bilateral flanks that have persisted into adulthood. He reports multiple near-syncopal episodes throughout his life at times of incidental rubbing of these lesions. He has loose stools occasionally, but does not have problems with swallowing, wheezing, or flushing. The physical examination revealed a 3-year-old healthy appearing female with multiple flesh colored to brown papules scattered over her extremities, trunk, and along her hairline with positive Darier sign and a 2-year-old healthy appearing male with a 3-mm 3 4-mm brown macule on his right upper back with a positive Darier sign. Molecular testing of the skin biopsy specimens and oral mucosa swabs were negative for mutations in exons 11, 17, 8, and 10. A histologic examination revealed sheets of mast cells, and a diagnosis of hereditary cutaneous mastocytosis was given. Mastocytosis is a group of heterogeneous disorders with cutaneous and systemic manifestations caused by mast cell infiltration. Mastocytosis most frequently occurs in the skin with a variety of clinical presentations: urticaria pigmentosa, mastocytomas, diffuse and erythrodermic disease, and telangiectasia macularis eruptiva perstans. Systemic mastocytosis often involves the bone marrow, liver, spleen, and gastrointestinal tract, and is associated with peripheral eosinophilia. Patients with systemic manifestations of mastocytosis rarely develop mast cell leukemia. The most frequent presentation of mastocytosis is that of a self-limited, sporadic, disease of childhood. However, to date there are approximately 50 families in the literature with a hereditary form of mastocytosis. Mast cells express CD34 and the KIT tyrosine kinase. KIT is the product of the protooncogene c-kit located on chromosome 4 and belongs to the type III receptor tyrosine kinase subfamily. Activation of KIT results in mast cell proliferation. In 1993, two heterozygous activating mutations in the cytoplasmic domain of KIT (D816V or V560G) were identified in a human mast cell line. To date, almost all sporadic adult cases of mastocytosis have been found to carry the D816V mutation. The D816V mutation is not commonly found in sporadic childhood cases. A subset of patients with systemic mastocytosis and increased numbers of eosinophils express a fusion gene composed of the FIP1L1 gene promoter and the PDGFR gene coding region. In these patients, FIP1L1 gene promoter causes over expression and subsequent autoactivation of the PDGFR kinase, which is very similar to the KIT kinase. Whether these patients have mastocytosis with eosinophilia or eosinophilic leukemia with increased mast cells is controversial. In contrast to sporadic mastocytosis, some familial cases of mastocytosis have been found to have germ line mutation disrupting an inhibitory region of KIT, like the V560G mutation. These families may also have an increased risk of developing gastrointestinal stromal tumors (GISTs), which may be fatal. GISTs are caused by overactivation of KIT in the cells of the gut autonomic nervous system. Familial mastocytosis is generally inherited in an autosomal dominant pattern with incomplete penetrance. The majority of patients with familial mastocytosis do not have a c-KIT mutation. Familial mastocytosis has been reported to manifest as cutaneous lesions only, or cutaneous lesions with increased incidence of GISTs. Familial GISTs are rare, autosomal dominant genetic disorders with known germline c-KIT mutations in exons 11, 13, or 17. Recently, a novel germline KIT mutation in exon 8, which results in the deletion of codon 419 in the extracellular portion of KIT, has been described in a family with both hereditary mastocytosis and familial GISTs. Current therapy is aimed at symptom control with antihistamines, topical corticosteroids, phototherapy, cromolyn sodium, Epi-Pens for emergencies, and trigger avoidance. Imatinib, a tyrosine kinase inhibitor that targets Bcl-Abl, plateletderived growth factor receptor (PDGFR)-alfa and -beta, and KIT has been used in treatment of mast cell disease, but has only proven effective in familial patients or sporadic patients with the FIP1L1/PDGFR fusion gene and eosinophilia. Patients with sporadic mastocytosis and D816V mutations affecting the KIT kinase site do not respond to imatinib because of conformational changes of the drug’s binding site. Patients with familial mastocytosis and c-KIT mutations, however, have normal
J AM ACAD DERMATOL
AB61
kinase binding sites and may respond to imatinib or other KIT kinase inhibitors. In those families with mutations that put them at high risk for GIST, close surveillance is recommended. However, the best modality of surveillance has yet to be agreed upon. At this time, computed tomographic scanning with both oral and intravenous contrast is likely the most sensitive modality for the detection of GISTs. Commercial support: None identified.
P1190 Skin compatibility and sun protection efficacy of adjunctive usage of photostable sunscreens with a prescription triple combination cream for the treatment of melasma Theresa Chen, Johnson & Johnson CPPW, Los Angeles, CA, United States; Jared Fantasia, MS, Johnson & Johnson CPPW, Skillman, NJ, United States; Warren Wallo, MS, Johnson & Johnson CPPW, Skillman, NJ, United States; Yohini Appa, PhD, Johnson & Johnson CPPW, Los Angeles, CA, United States In patients with melanocompetent skin, hyperpigmentation is a major concern. Uneven pigmentation often occurs during aging. Melasma refers to acquired hypermelanotic macules that appear in centrofacial, malar, and mandibular patterns. Melasma occurs in 50% to 70% of pregnancies and can worsen significantly in size and intensity under the sun. Therefore, it is important for clinicians who treat patients with melasma to identify adjuctive products that are clinically proven to be compatible with their prescribed treatment and provide adequate protection against sun exposure. A randomized, double-blind clinical study was conducted to evaluate the safety and efficacy of several photostable sunscreen products when used in conjuction with a prescription triple combination cream for reducing melasma in melanocompetent skin. Cells of 25 patients were completed for each regimen tested. An untreated control was also included. The sunscreens were applied once a day before sun exposure and the prescription triple combination cream was applied in the evening. Skin compatibility and sun protection efficacy were determined by expert grading, instrumental measurement, subject selfassessments, and digital photography at baseline and at weeks 2, 4, and 8. Clinical parameters included Melasma Area Severity Index and global severity of melasma, as well as photoaging parameters. Digital photography documented global facial improvement. Subject self-assessments included improvements in melasma and skin tone. This clinical study demonstrated that concomitant use of the test sunscreens is safe and compatible with in the treatment of patients with melasma.
P1192 Preliminary results of the elaboration of a new instrument to evaluate quality of life in patients with cellulite: CELLUQOL Doris Hexsel, Brazilian Center for Studies in Dermatology, Porto Alegre, RS, Brazil; Juliana Fonte de Souza, MD, Brazilian Center for Studies in Dermatology, Porto Alegre, RS, Brazil; Magda Weber, MD, MS, Brazilian Center for Studies in Dermatology, Porto Alegre, RS, Brazil; Maria Laura Taborda, MD, Brazilian Center for Studies in Dermatology, Porto Alegre, RS, Brazil Background: Quality of life (QOL) evaluation is very important in clinical research and patient care, because they usually present concerns regarding diseases or conditions. The development of questionnaires to evaluate disease or the condition’s impact in patients’ lives also provides physicians with a better understanding of the way a disease or a condition may physically, psychologically, and socially affect their patients. Almost all women have or believe they have cellulite. Up to the present time, no study on the QOL of those affected by cellulite has been published. Objective: To develop and validate a new instrument to evaluate the QOL of patients with cellulite. Methods: A qualitative study was conducted with 50 healthy female volunteers between 18 and 45 years of age with various degrees of cellulite in the buttocks and thighs. They answered an open question about how the cellulite affects their QOL. Results: From a preliminary analysis of the questions answered by the volunteers, the factors and situations that are influenced by the presence of cellulites were as follows: (1) patients usually do not use white and beach clothes—they prefer to use black ones (90%); (2) they dislike walking in the beach without wearing beach jackets (56%); (3) cellulite bothers and constraint the patients (38%); (4) they are afraid about their husbands watching their condition (36%) and have feelings of bad self-esteem (20%); (5) patients refuse to engage in leisure activities that could be constraining for them (18%); and (6) they usually feel bad about themselves because in spite of good good nutritional habits, they still have cellulite (14%). Other situations were related, although in a lower percentage of respondents. We could establish the main domains that are related to cellulite QOL that are: clothing manners, leisure, physical activities, husband relationship, feelings, and changes in daily habits. All these factors were listed in a new questionnaire called CelluQoL that will be be applied in a statistically significant number of patients in the second phase of this study. Conclusion: Cellulite causes a real impact on the QOL of patients and restricts those who suffer from this condition in everyday situations and activities. The development of a validated questionnaire to evaluate the QOL (CelluQoL) in these patients will allow physicians to understand the impact of this frequent condition in the affected women and to evaluate the impact and the need of new treatments for cellulite. Commercial support: None identified.
Commercial support: 100% sponsored by Johnson & Johnson Consumer Products Companies Worldwide.
P1191 Enterophatic acrodermatitis diagnosed in adulthood Mo´nica Gaviria, MD, Universidad Pontificia Bolivariana, Medellı´n, Antioquia, Colombia; Ana Rivas, MD, Clı´nica Universitaria Bolivariana, Medellı´n, Antioquia, Colombia; Marı´a Trujillo, MD, Clı´nica Universitaria Bolivariana, Medellı´n, Antioquia, Colombia A 31-year-old male patient who was a resident of Itagu ı Antioquia, Colombia; ¨´, married, without children; employee. His medical history was significant for dermatosis in childhood and retardation in the cure of wounds. He did not have history of diarrhea, alchoholism, weight loss, Crohn disease, or parenteral nutrition. He was previously treated by the dermatology department with topical ointments without improvement with diagnosis of psoriasis and contact dermatitis. The skin biopsy had enlarged epidermis and abundant vesicles at different levels and in mononuclear infiltrated dermis with dilated vessels. He presented exacerbation of the dermatologic affection with erythematous and macerated plaques around the natural orifices and in acral portions and extensors of limbs. Because of his clinical condition, an HIV enzyme-linked immunosorbent assay was ordered with negative result. Seric levels of zinc were measured and their values were initially (July 2006) 388 g/L, and then 511 g/L (August 2006), with reference values of 600 to 1200 g/L, where the deficiency is evidenced. Treatment was initiated with oral supplement of zinc sulphate with dramatic clinical response. Commercial support: None identified.
AB62
J AM ACAD DERMATOL
P1193 Development of pyoderma gangrenosum during therapy with infliximab for ulcerative colitis: A case report ´ n Uribe, Medellin, Antioquia, Colombia; Juan Natalia Jaimes, Hospital Pablo Tobo E. Arroyave, MD, Hospital Pablo Tobo´n Uribe, Medellin, Antioquia, Colombia; Luz ´ n Uribe, Medellin, Antioquia, Colombia; A. Vasquez, MD, Hospital Pablo Tobo ´ n Uribe, Medellin, Antioquia, Veronica Molina, MD, Hospital Pablo Tobo Colombia Pyoderma gangrenosum (PG) is a rare inflammatory disease of unknown etiology and a poorly understood pathogenesis. Its clinical presentation is variable, and a large percentage of cases are associated with inflammatory bowel disease. Although there are cases demonstrating the efficacy of antietumore necrosis factor therapy for PG, we present the case of a patient with ulcerative colitis who developed PG during therapy with infliximab. Commercial support: None identified.
MARCH 2009