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Clinical perspectives of mastocytosis: A patient survey
P7696
P8284
Clinical perspectives of mastocytosis: A patient survey Cathryn Sibbald, MD, University of Toronto, Toronto, Canada; Afsaneh Alavi, MD, Women’s College Hospital, Toronto, Canada; Carrie D’Arville, Former President, Mastocytosis Society of Canada, Toronto, Canada; R Gary Sibbald, MD, University of Toronto, Toronto, Canada
Concomitant fibrosing disorders in childhood Kazeem Salako, MBBS, Birmingham Children Hospital, Birmingham, United Kingdom; Malobi Ogboli, MBBS, Birmingham Children Hospital, Birmingham, United Kingdom Childhood lichen sclerosus (LiS) is a rare (probably undiagnosed) inflammatory skin disorder of uncertain clinical course. It may be complicated by vulva architectural changes of varying clinical depictions. We present a 13-year-old girl who attended our clinic with whitish-pale skin color changes involving both the eye lids, left neck, both flanks and right hip of several months duration. These changes were completely asymptomatic. There was a family history of type 2 DM and Sarcoidosis in dad older brother aged 15, respectively. Examination revealed depigmented skin changes on both eye lids and left neck in keeping with vitiligo; there were hypopigmented, shiny and wrinkling patches noted on both flanks, medial aspect of the right knee, right hip and vulva opening, raising a suspicion of lichen sclerosus. The perianal area was normal. Histology of the trunkal lesion revealed subepidermal oedema, homogenization of the collagen and sclerotic deep dermis which are in keeping with lichen sclerosus. Also there was hypocellular compacted collagen in the reticular dermis with periadnexal and perivascular lymphocytic infiltrates and occasional eosinophils. While the propensity for malignant transformation in Lichen sclerosus is possible, there has not been any long term study to definitely establish the connection. Localised scleroderma LoS (morphea) is a chronic inflammatory skin condition associated with increased collagen and extracellular matrix in the dermis. The etiology is unknown. The coexistence of LiS with localised scleroderma LoS (morphea) in adult is well known in literatures but very rarely documented in children. This is more evident in a recent retrospective analysis of 472 patients from Germany, 91 of who were children. Only 1 child out of 27 patients had concomitant LiS and LoS. In coexisting disease, histologic studies using lectin staining have been used to delineate the 2 conditions. While the mechanism of the disease process has not been elucidated, it is likely that the lesions represent a spectrum which may reflect closely related pathologic/etiologic processes in these 2 diseases. It is imperative to examine the skin of patients with localised scleroderma for LiS. The prognosis is uncertain; hence, long-term follow-up is recommended.
Background: Mastocytosis is an uncommon disease often referred to dermatologists, with both cutaneous forms and systemic forms with frequent skin involvement. Given its nonspecific presentation and low prevalence, diagnosis can be delayed from 2 to 10 years. Most of the current literature focuses on the presentation and diagnosis, with limited published data on the significant impact of this disease on quality of life. As patients play a key role in the success of treatment plans, assessing their experiences would help guide clinicians for optimal management. Methods: An online survey was sent to members of the Mastocytosis Society of Canada, a Canadian mastocytosis support group. The survey consisted of 36 questions about mastocytosis including patient quality of life, triggers, anxieties, patients’ preferences for prevention, treatment, and information. Results: A total of 110 surveys were completed (88% response rate). The median age of respondents was 55 years (54.1%), and 78.9% were female. Fifty-seven patients (51.8%) had symptoms for over 10 years, 24.5% for 5-10 years, 17% for 2-4 years and 6.4% for less than a year. Time to diagnosis from onset of symptoms was more than 5 years in 50% and 10 years in 30%. The diagnosis was made by a dermatologist in 45.8% of patients. Associated conditions included hypertension (23.6%) food allergies (59.3%), and gastrointestinal symptoms (69.4%). There was no family history of mastocytosis in 87% of patients. Most patients (84.5%) carry an Epipen and 53.6% have medic alert identification. Triggers included histamine releasers, temperature extremes, emotional and physical stress, fragrances or chemical odors, friction, physical exertion, latex and rubber. Conclusion: From this large sample of patients with mastocytosis, it is clear that we need more education and support for both patients and clinicians. The diversity of identified triggers, and lack of medical alerts in many patients are important findings. Dermatologists can minimize delay to diagnosis by considering this condition more often in patients presenting with compatible symptoms. These patients are susceptible to severe reactions to both environmental exposure and therapeutic interventions. Earlier diagnosis plus frequent ongoing dialogue would ensure recognition of triggers and optimization of treatment and quality of life.
Commercial support: None identified.
Commercial support: None identified.
P8377
P7823 Cutaneous involvement of multiple myeloma mimicking Kaposi sarcoma Lynne Napatalung, MD, Mayo Clinic, Scottsdale, AZ, United States; David Swanson, MD, Mayo Clinic, Scottsdale, AZ, United States; James Macdonald, MD, Mayo Clinic, Scottsdale, AZ, United States Background: Cutaneous involvement of multiple myeloma (MM) is rare. If present, cutaneous metastases are typically seen in more advanced MM and confer a poor prognosis. We report the case of a patient with MM who had development of purple papules on the foot and was suggestive of an initial diagnosis of Kaposi sarcoma. Case: A 71-year-old woman received a diagnosis of MM in 2007, which continued to progress over the next 2 years despite chemotherapy. Cutaneous lesions began to develop: specifically, smooth, purple, dome-shaped papules on the right dorsal foot that were aggregated just proximal to the toes. The favored clinical diagnosis was Kaposi sarcoma, iatrogenic-immunosuppression subtype. However, histopathologic analysis of a 3 mm punch biopsy showed a dense, diffuse infiltrate of atypical, immature, anaplastic plasma cells extending throughout the dermis, consistent with MM of the skin. The diagnosis of cutaneous MM was made. Given this poor prognostic finding, a more aggressive chemotherapy regimen was initiated. Despite this addition, five months later, biochemical progression of the malignancy was evident. Discussion: Although cutaneous involvement in MM is rare, a typical clinical presentation has been established, with variations in morphology and distribution. Clinicopathologic correlation was essential in successfully interpreting this unusual presentation. Ascertaining the correct diagnosis is critical because cutaneous involvement of MM portends a worse prognosis and shorter survival and affects therapeutic planning. Commercial support: None identified.
AB40
J AM ACAD DERMATOL
MAY 2014
P8284
Clinical perspectives of mastocytosis: A patient survey Cathryn Sibbald, MD, University of Toronto, Toronto, Canada; Afsaneh Alavi, MD, Women’s College Hospital, Toronto, Canada; Carrie D’Arville, Former President, Mastocytosis Society of Canada, Toronto, Canada; R Gary Sibbald, MD, University of Toronto, Toronto, Canada
Concomitant fibrosing disorders in childhood Kazeem Salako, MBBS, Birmingham Children Hospital, Birmingham, United Kingdom; Malobi Ogboli, MBBS, Birmingham Children Hospital, Birmingham, United Kingdom Childhood lichen sclerosus (LiS) is a rare (probably undiagnosed) inflammatory skin disorder of uncertain clinical course. It may be complicated by vulva architectural changes of varying clinical depictions. We present a 13-year-old girl who attended our clinic with whitish-pale skin color changes involving both the eye lids, left neck, both flanks and right hip of several months duration. These changes were completely asymptomatic. There was a family history of type 2 DM and Sarcoidosis in dad older brother aged 15, respectively. Examination revealed depigmented skin changes on both eye lids and left neck in keeping with vitiligo; there were hypopigmented, shiny and wrinkling patches noted on both flanks, medial aspect of the right knee, right hip and vulva opening, raising a suspicion of lichen sclerosus. The perianal area was normal. Histology of the trunkal lesion revealed subepidermal oedema, homogenization of the collagen and sclerotic deep dermis which are in keeping with lichen sclerosus. Also there was hypocellular compacted collagen in the reticular dermis with periadnexal and perivascular lymphocytic infiltrates and occasional eosinophils. While the propensity for malignant transformation in Lichen sclerosus is possible, there has not been any long term study to definitely establish the connection. Localised scleroderma LoS (morphea) is a chronic inflammatory skin condition associated with increased collagen and extracellular matrix in the dermis. The etiology is unknown. The coexistence of LiS with localised scleroderma LoS (morphea) in adult is well known in literatures but very rarely documented in children. This is more evident in a recent retrospective analysis of 472 patients from Germany, 91 of who were children. Only 1 child out of 27 patients had concomitant LiS and LoS. In coexisting disease, histologic studies using lectin staining have been used to delineate the 2 conditions. While the mechanism of the disease process has not been elucidated, it is likely that the lesions represent a spectrum which may reflect closely related pathologic/etiologic processes in these 2 diseases. It is imperative to examine the skin of patients with localised scleroderma for LiS. The prognosis is uncertain; hence, long-term follow-up is recommended.
Background: Mastocytosis is an uncommon disease often referred to dermatologists, with both cutaneous forms and systemic forms with frequent skin involvement. Given its nonspecific presentation and low prevalence, diagnosis can be delayed from 2 to 10 years. Most of the current literature focuses on the presentation and diagnosis, with limited published data on the significant impact of this disease on quality of life. As patients play a key role in the success of treatment plans, assessing their experiences would help guide clinicians for optimal management. Methods: An online survey was sent to members of the Mastocytosis Society of Canada, a Canadian mastocytosis support group. The survey consisted of 36 questions about mastocytosis including patient quality of life, triggers, anxieties, patients’ preferences for prevention, treatment, and information. Results: A total of 110 surveys were completed (88% response rate). The median age of respondents was 55 years (54.1%), and 78.9% were female. Fifty-seven patients (51.8%) had symptoms for over 10 years, 24.5% for 5-10 years, 17% for 2-4 years and 6.4% for less than a year. Time to diagnosis from onset of symptoms was more than 5 years in 50% and 10 years in 30%. The diagnosis was made by a dermatologist in 45.8% of patients. Associated conditions included hypertension (23.6%) food allergies (59.3%), and gastrointestinal symptoms (69.4%). There was no family history of mastocytosis in 87% of patients. Most patients (84.5%) carry an Epipen and 53.6% have medic alert identification. Triggers included histamine releasers, temperature extremes, emotional and physical stress, fragrances or chemical odors, friction, physical exertion, latex and rubber. Conclusion: From this large sample of patients with mastocytosis, it is clear that we need more education and support for both patients and clinicians. The diversity of identified triggers, and lack of medical alerts in many patients are important findings. Dermatologists can minimize delay to diagnosis by considering this condition more often in patients presenting with compatible symptoms. These patients are susceptible to severe reactions to both environmental exposure and therapeutic interventions. Earlier diagnosis plus frequent ongoing dialogue would ensure recognition of triggers and optimization of treatment and quality of life.
Commercial support: None identified.
Commercial support: None identified.
P8377
P7823 Cutaneous involvement of multiple myeloma mimicking Kaposi sarcoma Lynne Napatalung, MD, Mayo Clinic, Scottsdale, AZ, United States; David Swanson, MD, Mayo Clinic, Scottsdale, AZ, United States; James Macdonald, MD, Mayo Clinic, Scottsdale, AZ, United States Background: Cutaneous involvement of multiple myeloma (MM) is rare. If present, cutaneous metastases are typically seen in more advanced MM and confer a poor prognosis. We report the case of a patient with MM who had development of purple papules on the foot and was suggestive of an initial diagnosis of Kaposi sarcoma. Case: A 71-year-old woman received a diagnosis of MM in 2007, which continued to progress over the next 2 years despite chemotherapy. Cutaneous lesions began to develop: specifically, smooth, purple, dome-shaped papules on the right dorsal foot that were aggregated just proximal to the toes. The favored clinical diagnosis was Kaposi sarcoma, iatrogenic-immunosuppression subtype. However, histopathologic analysis of a 3 mm punch biopsy showed a dense, diffuse infiltrate of atypical, immature, anaplastic plasma cells extending throughout the dermis, consistent with MM of the skin. The diagnosis of cutaneous MM was made. Given this poor prognostic finding, a more aggressive chemotherapy regimen was initiated. Despite this addition, five months later, biochemical progression of the malignancy was evident. Discussion: Although cutaneous involvement in MM is rare, a typical clinical presentation has been established, with variations in morphology and distribution. Clinicopathologic correlation was essential in successfully interpreting this unusual presentation. Ascertaining the correct diagnosis is critical because cutaneous involvement of MM portends a worse prognosis and shorter survival and affects therapeutic planning. Commercial support: None identified.
AB40
J AM ACAD DERMATOL
MAY 2014