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Maffucci syndrome presenting in a patient with nail-patella syndrome 1
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MAFFUCCI SYNDROME PRESENTING IN A PATIENT WITH NAIL-PATELLA SYNDROME Latanya T. Benjamin, MD, University of Miami School of Medicine/Jackson Memorial Hospital, Miami, FL, United States, Andrea Trowers, MD, University of Miami School of Medicine/Jackson Memorial Hospital, Miami, FL, United States, George Elgart, MD, University of Miami School of Medicine/Jackson Memorial Hospital, Miami, FL, United States, Lawrence Schachner, MD, University of Miami School of Medicine/Jackson Memorial Hospital, Miami, FL, United States Maffucci Syndrome is a rare disorder characterized by multiple superficial and deep venous malformations that mainly occur on the distal extremities. Patients with this rare condition also have enchondromas that are predisposed to fractures and 15-20% of cases can undergo malignant transformation. Nail-Patella Syndrome is another rare genodermatosis. Features of this condition include the absence or hypoplasia of the patella and characteristic nail changes, including a triangular lunulae. A 25 year-old white healthy female with a known diagnosis of Nail-Patella Syndrome presented for evaluation of blue nodules that involved bilateral feet and were increasing in size and number. Three similar lesions had appeared on her chest during childhood and remained stable in size. Over the past three years a large number of these lesions had been appearing on her legs and feet. Additionally she reported multiple bone fractures secondary to minor traumas during her childhood. X-rays at that time had demonstrated “holes in the bones” and her parents were told that she had cancer. However an extensive workup was negative. On physical exam the patient had three 1.0cm subcutaneous bluish nodules involving the chest. These lesions were firm and nontender on palpation. Numerous similar lesions involved the lateral aspect of both feet and several were present on bilateral lower legs. These lesions varied in size from 0.5cm to 2.0-cm. Triangular lunulae were present on the nails of both hands. On palpation, the patella was markedly diminished in size, but present. On gross examination of her eyes both a Lester iris and heterochromia of the iris were absent. Punch biopsies were obtained from two subcutaneous nodules on her leg. Skin specimen demonstrated overlying hyperkeratosis and modest epidermal acanthosis. Throughout the dermis there was proliferation of vascular interlacing vessels with prominent endothelial cells. There was also some deeper dermal fibrosis. The histopathology was consistent with the diagnosis of spindle cell hemangioma. X-rays of the patient’s trunk and extremities revealed multiple areas of translucency, consistent with enchondromas, as well as markedly hypoplastic patellas. Both Maffucci Syndrome and Nail-Patella Syndrome are extremely rare. On our review of the literature, there are currently no reported cases of a patient with both of these rare genodermatoses.
ANTIANGIOGENIC TREATMENT OF PYOGENIC GRANULOMA WITH IMIQUIMOD Diego E. Marra, MD, Angiogenesis Clinic, Dermatology Department, Brigham & Women’s Hospital, Cambridge, MA, United States, Harley A. Haynes, MD, Harvard Medical School, Boston, MA, United States, Vincent W. Li, MD, MBA, Institute for Advanced Studies, The Angiogenesis Foundation, Cambridge, MA, United States Background: Pyogenic granuloma is a frequently diagnosed, benign proliferation of vascular tissue. Conventional treatment interventions include excision, electrodessication and curettage, cryotherapy, and laser ablation, which can be associated with local tissue destruction, scar, and recurrence in some cases. Although imiquimod is commonly regarded as an immune response modifier, it also induces potent antiangiogenic cytokines including interferons and interleukin-12. We therefore postulated that imiquimod might be useful in the treatment of pyogenic granuloma. Case Report: We describe two patients with pyogenic granuloma who responded rapidly to topical treatment with imiquimod. Patient 1, a 36 year-old African American female, developed a rapidly enlarging, vascular nodule with a collaret of scale on her central chest that bled profusely with minimal trauma. A clinical diagnosis of pyogenic granuloma was made. Because of the risks of keloidal scarring and hypopigmentation, the patient declined surgical or ablative treatment options. Patient 2, a 82 year-old male, developed an enlarging vascular nodule at the lateral nail margin of the left thumb. The lesion was treated with cryosurgery but recurred within weeks. We treated both patients with imiquimod 5% cream applied daily under occlusion. By one week of treatment, significant blanching and reduced friability were noted. Within two weeks after initiating therapy, the lesion in both patients completely resolved. There has been no recurrence, keloidal scarring, or hypopigmentation after ⬎ 1 year of follow-up. Conclusions: Imiquimod may represent a non-surgical, non-ablative treatment alternative in the management of pyogenic granuloma. The clinical effect may result from imiquimod-mediated induction of antiangiogenic cytokines. This therapeutic modality may be of particular benefit in children and darker skin types, in whom destructive intervention may be undesirable or impractical. Disclosure not available at press time.
Disclosure not available at press time.
P216 CUTANEOUS BODY IMAGE: EMPIRICAL VALIDATION OF AN IMPORTANT CONSTRUCT Madhulika A Gupta, MD, Department of Psychiatry, University of Western Ontario, London, ON, Canada, Aditya Gupta, MD, PhD, Division of Dermatology, Department of Medicine, University of Toronto, Toronto, ON, Canada Objective: Cutaneous body image, defined as the mental representation of the skin and its appendages is an important clinical construct especially in the case of cosmetically disfiguring skin disorders. The purpose of this study is to empirically examine the construct of cutaneous body image in a non-clinical sample to obtain baseline normative data. METHODS: Out of 600 consecutive, consenting non-clinical subjects 312 (71 men and 241 women; mean “SD age: 38.4” 14.9 years) completed a study survey which included 7 items addressing satisfaction with the appearance of the skin, nails and hair each of which was rated on a 10-point scale. An average of these 7 items comprised the cutaneous body image (CutaneousBI) variable. RESULTS: The CutaneousBI variable (possible range 0 to 9) was normally distributed with mean ⫾ SD of 4.96 ⫾ 1.73; median score of 4.86; and good test-retest reliability after 4 weeks (r ⫽ 0.82, p ⬍ 0.001). Men reported higher (p ⬍ 0.001) scores than women indicating greater cutaneous body image satisfaction among men. There was a marginal (p ⫽ 0.08) decline in CutaneousBI satisfaction with increasing age. The CutaneousBI variable correlated inversely with the BSI and EDI ratings (⫺ 0.11 ⬍ Pearson r ⬍ ⫺0.39). Stepwise multiple regression analysis using the CutaneousBI as the dependent variable and the subscales of the Brief Symptom Inventor (BSI) and the Eating Disorder Inventory (EDI) as independent variables revealed that Interpersonal Sensitivity (BSI) and Body Dissatisfaction (EDI) were the best predictors of CutaneousBI (R ⫽ 0.44, p ⬍ 0.001; adjusted R squared ⫽ 0.19). These variables measure lack of ease with socialization and body image. COMMENT: The results from the normative data from a nonclinical sample suggest that the cutaneous body image construct is a robust and clinically relevant construct that plays an important role in an individual’s mental health and overall body image. Disclosure not available at press time.
MARCH 2004
P218 INTERESTING CASES FROM INDIANA UNIVERSITY Divya Railan, MD, Indiana University, Indianapolis, IN, United States, Charles Lewis, MD, Indiana University, Indianapolis, IN, United States A collection of 5 interesting cases from Indiana University will be presented complete with clinical history, pathology, and diagnosis. Cases will be presented in a quiz format, similar to the Archives of Dermatology Off Center Fold, with answers provided in a paper handout available at poster session. Disclosure not available at press time.
J AM ACAD DERMATOL
P57
P217
MAFFUCCI SYNDROME PRESENTING IN A PATIENT WITH NAIL-PATELLA SYNDROME Latanya T. Benjamin, MD, University of Miami School of Medicine/Jackson Memorial Hospital, Miami, FL, United States, Andrea Trowers, MD, University of Miami School of Medicine/Jackson Memorial Hospital, Miami, FL, United States, George Elgart, MD, University of Miami School of Medicine/Jackson Memorial Hospital, Miami, FL, United States, Lawrence Schachner, MD, University of Miami School of Medicine/Jackson Memorial Hospital, Miami, FL, United States Maffucci Syndrome is a rare disorder characterized by multiple superficial and deep venous malformations that mainly occur on the distal extremities. Patients with this rare condition also have enchondromas that are predisposed to fractures and 15-20% of cases can undergo malignant transformation. Nail-Patella Syndrome is another rare genodermatosis. Features of this condition include the absence or hypoplasia of the patella and characteristic nail changes, including a triangular lunulae. A 25 year-old white healthy female with a known diagnosis of Nail-Patella Syndrome presented for evaluation of blue nodules that involved bilateral feet and were increasing in size and number. Three similar lesions had appeared on her chest during childhood and remained stable in size. Over the past three years a large number of these lesions had been appearing on her legs and feet. Additionally she reported multiple bone fractures secondary to minor traumas during her childhood. X-rays at that time had demonstrated “holes in the bones” and her parents were told that she had cancer. However an extensive workup was negative. On physical exam the patient had three 1.0cm subcutaneous bluish nodules involving the chest. These lesions were firm and nontender on palpation. Numerous similar lesions involved the lateral aspect of both feet and several were present on bilateral lower legs. These lesions varied in size from 0.5cm to 2.0-cm. Triangular lunulae were present on the nails of both hands. On palpation, the patella was markedly diminished in size, but present. On gross examination of her eyes both a Lester iris and heterochromia of the iris were absent. Punch biopsies were obtained from two subcutaneous nodules on her leg. Skin specimen demonstrated overlying hyperkeratosis and modest epidermal acanthosis. Throughout the dermis there was proliferation of vascular interlacing vessels with prominent endothelial cells. There was also some deeper dermal fibrosis. The histopathology was consistent with the diagnosis of spindle cell hemangioma. X-rays of the patient’s trunk and extremities revealed multiple areas of translucency, consistent with enchondromas, as well as markedly hypoplastic patellas. Both Maffucci Syndrome and Nail-Patella Syndrome are extremely rare. On our review of the literature, there are currently no reported cases of a patient with both of these rare genodermatoses.
ANTIANGIOGENIC TREATMENT OF PYOGENIC GRANULOMA WITH IMIQUIMOD Diego E. Marra, MD, Angiogenesis Clinic, Dermatology Department, Brigham & Women’s Hospital, Cambridge, MA, United States, Harley A. Haynes, MD, Harvard Medical School, Boston, MA, United States, Vincent W. Li, MD, MBA, Institute for Advanced Studies, The Angiogenesis Foundation, Cambridge, MA, United States Background: Pyogenic granuloma is a frequently diagnosed, benign proliferation of vascular tissue. Conventional treatment interventions include excision, electrodessication and curettage, cryotherapy, and laser ablation, which can be associated with local tissue destruction, scar, and recurrence in some cases. Although imiquimod is commonly regarded as an immune response modifier, it also induces potent antiangiogenic cytokines including interferons and interleukin-12. We therefore postulated that imiquimod might be useful in the treatment of pyogenic granuloma. Case Report: We describe two patients with pyogenic granuloma who responded rapidly to topical treatment with imiquimod. Patient 1, a 36 year-old African American female, developed a rapidly enlarging, vascular nodule with a collaret of scale on her central chest that bled profusely with minimal trauma. A clinical diagnosis of pyogenic granuloma was made. Because of the risks of keloidal scarring and hypopigmentation, the patient declined surgical or ablative treatment options. Patient 2, a 82 year-old male, developed an enlarging vascular nodule at the lateral nail margin of the left thumb. The lesion was treated with cryosurgery but recurred within weeks. We treated both patients with imiquimod 5% cream applied daily under occlusion. By one week of treatment, significant blanching and reduced friability were noted. Within two weeks after initiating therapy, the lesion in both patients completely resolved. There has been no recurrence, keloidal scarring, or hypopigmentation after ⬎ 1 year of follow-up. Conclusions: Imiquimod may represent a non-surgical, non-ablative treatment alternative in the management of pyogenic granuloma. The clinical effect may result from imiquimod-mediated induction of antiangiogenic cytokines. This therapeutic modality may be of particular benefit in children and darker skin types, in whom destructive intervention may be undesirable or impractical. Disclosure not available at press time.
Disclosure not available at press time.
P216 CUTANEOUS BODY IMAGE: EMPIRICAL VALIDATION OF AN IMPORTANT CONSTRUCT Madhulika A Gupta, MD, Department of Psychiatry, University of Western Ontario, London, ON, Canada, Aditya Gupta, MD, PhD, Division of Dermatology, Department of Medicine, University of Toronto, Toronto, ON, Canada Objective: Cutaneous body image, defined as the mental representation of the skin and its appendages is an important clinical construct especially in the case of cosmetically disfiguring skin disorders. The purpose of this study is to empirically examine the construct of cutaneous body image in a non-clinical sample to obtain baseline normative data. METHODS: Out of 600 consecutive, consenting non-clinical subjects 312 (71 men and 241 women; mean “SD age: 38.4” 14.9 years) completed a study survey which included 7 items addressing satisfaction with the appearance of the skin, nails and hair each of which was rated on a 10-point scale. An average of these 7 items comprised the cutaneous body image (CutaneousBI) variable. RESULTS: The CutaneousBI variable (possible range 0 to 9) was normally distributed with mean ⫾ SD of 4.96 ⫾ 1.73; median score of 4.86; and good test-retest reliability after 4 weeks (r ⫽ 0.82, p ⬍ 0.001). Men reported higher (p ⬍ 0.001) scores than women indicating greater cutaneous body image satisfaction among men. There was a marginal (p ⫽ 0.08) decline in CutaneousBI satisfaction with increasing age. The CutaneousBI variable correlated inversely with the BSI and EDI ratings (⫺ 0.11 ⬍ Pearson r ⬍ ⫺0.39). Stepwise multiple regression analysis using the CutaneousBI as the dependent variable and the subscales of the Brief Symptom Inventor (BSI) and the Eating Disorder Inventory (EDI) as independent variables revealed that Interpersonal Sensitivity (BSI) and Body Dissatisfaction (EDI) were the best predictors of CutaneousBI (R ⫽ 0.44, p ⬍ 0.001; adjusted R squared ⫽ 0.19). These variables measure lack of ease with socialization and body image. COMMENT: The results from the normative data from a nonclinical sample suggest that the cutaneous body image construct is a robust and clinically relevant construct that plays an important role in an individual’s mental health and overall body image. Disclosure not available at press time.
MARCH 2004
P218 INTERESTING CASES FROM INDIANA UNIVERSITY Divya Railan, MD, Indiana University, Indianapolis, IN, United States, Charles Lewis, MD, Indiana University, Indianapolis, IN, United States A collection of 5 interesting cases from Indiana University will be presented complete with clinical history, pathology, and diagnosis. Cases will be presented in a quiz format, similar to the Archives of Dermatology Off Center Fold, with answers provided in a paper handout available at poster session. Disclosure not available at press time.
J AM ACAD DERMATOL
P57