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A case of Gorham-Stout disease with progressive cutaneous involvement
1165
1366
A case of generalized scleromyxedema that responded to IVIG monotherapy Swati Kannan, MD, Henry Ford Hospital, Detroit, MI, United States; Holly Kerr, MD, Henry Ford Hospital, Detroit, MI, United States
A case of ichthyosiform sarcoidosis on the lower extremities Krishna Patel, MD, University of Illinois at Chicago, Chicago, IL, United States; Milena Lyon, MD, University of Illinois at Chicago, Chicago, IL, United States; Claudia Hernandez, MD, University of Illinois at Chicago, Chicago, IL, United States
A 49-year-old African-American female presented with a mildly pruritic rash with an initial biopsy showing changes suggestive of interstitial granuloma annulare versus papular mucinosis. Despite treatment, her lesions continued to disseminate, and a second biopsy finally confirmed the clinical diagnosis of scleromyxedema. Further work-up revealed elevated serum kappa chains, and a subsequent bone marrow biopsy demonstrated a silent 10-15% plasma cell myeloma. She was started on IVIG 2 g/kg spread contiguously over five days once a month for six months. She received three cycles so far, which has resulted in dramatic improvement of her cutaneous lesions and associated pruritus. Scleromyxedema is an idiopathic cutaneous mucinosis that affects middle-aged adults. Patients present with a symmetrical distribution of 2-3 mm waxy or lichenoid papules coalescing to form thick plaques with sclerodermoid changes. These patients also have concurrent IgG monoclonal gammopathy and elevated lambda light chains, but the role of this gammopathy remains a debate. While these patients do have evidence of plasma cell dyscrasia, serum levels of these proteins do not correlate with disease progression or severity. In actuality, only 10% of these patients progress to develop frank multiple myeloma. Patients with scleromyxedema can develop internal manifestations, involving a number of systems such as neurologic, rheumatologic, muscular, cardiac, respiratory, and renal organs. Treatment for this condition is disappointing, because multiple agents have been tried with limited success. Main treatments include agents such as melphalan, systemic steroids, intravenous immunoglobulins (IVIGs), plasmapheresis, and various other chemotherapies. Commercial support: None identified.
Sarcoidosis is a granulomatous disease with multisystem involvement that may include the lung, eye, skin, and heart among others. An estimated 20-35% of sarcoidosis patients have cutaneous involvement. Skin manifestations include macules, papules, plaques, nodules, ulcers, pustules, and even alopecia. Ichthyosiform sarcoidosis (IS) is a rare form of this disease with fewer than 25 cases reported in the medical literature. We present a case of IS on the lower extremities of an African-American woman and review its presentation with other cases reported in the medical literature. A 66-year-old female presented with a complaint of ‘‘dark spots’’ on both lower legs for the past 3 to 4 years. The spots were pruritic and seemed to be increasing in size. A podiatrist had recommended overthe-counter soaps and moisturizers but she experienced no relief. Her medical history was significant for seizures and glaucoma. Physical examination revealed diffuse thin, white scale with a sharp edge in arciform patterns. Within this background were several scattered hyperpigmented, dry, scaly patches on bilateral lower legs. A skin biopsy was performed. Deep dermal noncaseating granulomas were seen. Acid-fast bacilli, fite, and periodic acid-Schiff stains were negative. These findings were consistent with sarcoidosis. Her evaluation for systemic involvement is ongoing at this time. Cutaneous features of IS patches are typically described as having a ‘‘pasted on’’ appearance with adherent centers. IS is believed to be an excellent marker for systemic disease with 95% of reported cases having some form of internal involvement. All patients with ichthyosiform manifestations of sarcoidosis should undergo a thorough evaluation for further systemic disease. The lungs are the most commonly involved internal organ in sarcoidosis. Thus far IS has been described only in dark-skinned individuals. Sarcoidosis in general has an increased prevalence in African American populations as well as Scandinavian. The acquired ichthyosiform changes appear to precede the diagnosis of systemic disease in most cases by a median of 3 months; however, it can occur simultaneously, or after systemic disease diagnosis. Systemic therapy is often needed for this type of sarcoidosis since it has been reported to progress rapidly. It is important to recognize IS in order to screen the patient for further organ involvement and initiate appropriate treatment. Commercial support: None identified.
1088 A case of multiple adult xanthogranulomas Kathryn Echols, MD, Medical University of South Carolina, Charleston, SC, United States; Renee Straub, MD, Medical University of South Carolina, Charleston, SC, United States
A case of Gorham-Stout disease with progressive cutaneous involvement Tae-In Kim, MD, Kyung-hee University Medical Center, Seoul, South Korea; Myong-Il Bae, MD, Kyung-hee University Medical Center, Seoul, South Korea; Min-Kyung Shin, MD, PhD, Kyung-hee University Medical Center, Seoul, South Korea; Nack-In Kim, MD, PhD, Kyung-hee University Medical Center, Seoul, South Korea Gorham-Stout disease is a rare bone disorder characterized by angiomatous proliferation resulting in destruction and resorption of osseous matrix. It has a variable presentation as a number of different sites may be affected including the dermis, soft tissue, and viscera. The involved cutaneous and soft tissue lesions typically present with spongy-like and soft brown-to-purple lesions. The clinical course is generally protracted with eventual stabilization of the affected bone, but rarely fatal. There is no standard treatment defined for this disease, and variable therapies such as medical, surgical, and radiation therapy have been used. We report a case of 24-year-old male with Gorham disease, who was presented with progressive cutaneous lesions adjacent to the diseased bone. On physical examination, he had scattered multiple erythematous to dark brownish colored, some depressed and some elevated, soft papules and patches on left leg, buttock, and back with severe lymphedema and yellowish colored, some verrucous surfaced, soft papules and nodules on the inguinal area with chylous discharges. Skin biopsy from left ankle showed numerous and irregular dilated endothelial-lined vessels in the dermis with positivity of D2-40 staining. The patient refused all the optional treatments and we continue to monitor him closely.
A 45-year-old African American female presented with a 1-2 month history of multiple facial lesions. The lesions were asymptomatic but were bothersome from a cosmetic standpoint due to location over the central face. Physical examination demonstrated multiple pink to yellow-brown 2-5 mm firm papules scattered over the forehead, malar cheeks, and nose. The lesions were treated with topical corticosteroids, intralesional corticosteroids, and topical calcineurin inhibitors without improvement. A punch biopsy was consistent with a xanthogranulomatous infiltrate favoring xanthogranuloma of adult type. An ophthalmologic examination was normal. Flattening of the lesions was appreciated after a 3-week prednisone taper; however, the improvement was noted to be temporary. The patient was started on methotrexate 12.5 mg weekly. After approximately 3 months of treatment, the lesions greatly improved. A higher dose of 17.5 mg of methotrexate was not noted to add any further improvement over the next 3 months. This case demonstrates an unusual variant of xanthogranuloma—multiple adult xanthogranulomas. Few case reports have documented multiple xanthogranulomas in adults. Approximately 10% of juvenile xanthogranuloma cases manifest in adulthood. Most cases of the adult type are solitary and are removed at the time of biopsy, therefore limited data are available regarding clinical course and treatment outcomes for multiple lesions. Some literature reviews state that the majority of these lesions do not undergo spontaneous resolution as is the rule for the juvenile variant of xanthogranuloma, but little data exists regarding treatment recommendations for the persistent lesions. One case report demonstrated improvement with isotretinoin. In contrast, another review stated that spontaneous regression was observed in 54% of cases with a median duration of 22 months and therefore recommended limiting systemic therapy. No consensus exists regarding expectation for spontaneous resolution or for treatment in chronic cases. Because this entity commonly presents on the head and neck and can be very cosmetically disfiguring to patients, treatment options are needed for the persistent cases of multiple xanthogranulomas in adults. This case report adds to our knowledge of a rarely reported entity and demonstrates a potential area for further treatment investigation.
Commercial support: None identified.
Commercial support: None identified.
917
MAY 2015
J AM ACAD DERMATOL
AB35
1366
A case of generalized scleromyxedema that responded to IVIG monotherapy Swati Kannan, MD, Henry Ford Hospital, Detroit, MI, United States; Holly Kerr, MD, Henry Ford Hospital, Detroit, MI, United States
A case of ichthyosiform sarcoidosis on the lower extremities Krishna Patel, MD, University of Illinois at Chicago, Chicago, IL, United States; Milena Lyon, MD, University of Illinois at Chicago, Chicago, IL, United States; Claudia Hernandez, MD, University of Illinois at Chicago, Chicago, IL, United States
A 49-year-old African-American female presented with a mildly pruritic rash with an initial biopsy showing changes suggestive of interstitial granuloma annulare versus papular mucinosis. Despite treatment, her lesions continued to disseminate, and a second biopsy finally confirmed the clinical diagnosis of scleromyxedema. Further work-up revealed elevated serum kappa chains, and a subsequent bone marrow biopsy demonstrated a silent 10-15% plasma cell myeloma. She was started on IVIG 2 g/kg spread contiguously over five days once a month for six months. She received three cycles so far, which has resulted in dramatic improvement of her cutaneous lesions and associated pruritus. Scleromyxedema is an idiopathic cutaneous mucinosis that affects middle-aged adults. Patients present with a symmetrical distribution of 2-3 mm waxy or lichenoid papules coalescing to form thick plaques with sclerodermoid changes. These patients also have concurrent IgG monoclonal gammopathy and elevated lambda light chains, but the role of this gammopathy remains a debate. While these patients do have evidence of plasma cell dyscrasia, serum levels of these proteins do not correlate with disease progression or severity. In actuality, only 10% of these patients progress to develop frank multiple myeloma. Patients with scleromyxedema can develop internal manifestations, involving a number of systems such as neurologic, rheumatologic, muscular, cardiac, respiratory, and renal organs. Treatment for this condition is disappointing, because multiple agents have been tried with limited success. Main treatments include agents such as melphalan, systemic steroids, intravenous immunoglobulins (IVIGs), plasmapheresis, and various other chemotherapies. Commercial support: None identified.
Sarcoidosis is a granulomatous disease with multisystem involvement that may include the lung, eye, skin, and heart among others. An estimated 20-35% of sarcoidosis patients have cutaneous involvement. Skin manifestations include macules, papules, plaques, nodules, ulcers, pustules, and even alopecia. Ichthyosiform sarcoidosis (IS) is a rare form of this disease with fewer than 25 cases reported in the medical literature. We present a case of IS on the lower extremities of an African-American woman and review its presentation with other cases reported in the medical literature. A 66-year-old female presented with a complaint of ‘‘dark spots’’ on both lower legs for the past 3 to 4 years. The spots were pruritic and seemed to be increasing in size. A podiatrist had recommended overthe-counter soaps and moisturizers but she experienced no relief. Her medical history was significant for seizures and glaucoma. Physical examination revealed diffuse thin, white scale with a sharp edge in arciform patterns. Within this background were several scattered hyperpigmented, dry, scaly patches on bilateral lower legs. A skin biopsy was performed. Deep dermal noncaseating granulomas were seen. Acid-fast bacilli, fite, and periodic acid-Schiff stains were negative. These findings were consistent with sarcoidosis. Her evaluation for systemic involvement is ongoing at this time. Cutaneous features of IS patches are typically described as having a ‘‘pasted on’’ appearance with adherent centers. IS is believed to be an excellent marker for systemic disease with 95% of reported cases having some form of internal involvement. All patients with ichthyosiform manifestations of sarcoidosis should undergo a thorough evaluation for further systemic disease. The lungs are the most commonly involved internal organ in sarcoidosis. Thus far IS has been described only in dark-skinned individuals. Sarcoidosis in general has an increased prevalence in African American populations as well as Scandinavian. The acquired ichthyosiform changes appear to precede the diagnosis of systemic disease in most cases by a median of 3 months; however, it can occur simultaneously, or after systemic disease diagnosis. Systemic therapy is often needed for this type of sarcoidosis since it has been reported to progress rapidly. It is important to recognize IS in order to screen the patient for further organ involvement and initiate appropriate treatment. Commercial support: None identified.
1088 A case of multiple adult xanthogranulomas Kathryn Echols, MD, Medical University of South Carolina, Charleston, SC, United States; Renee Straub, MD, Medical University of South Carolina, Charleston, SC, United States
A case of Gorham-Stout disease with progressive cutaneous involvement Tae-In Kim, MD, Kyung-hee University Medical Center, Seoul, South Korea; Myong-Il Bae, MD, Kyung-hee University Medical Center, Seoul, South Korea; Min-Kyung Shin, MD, PhD, Kyung-hee University Medical Center, Seoul, South Korea; Nack-In Kim, MD, PhD, Kyung-hee University Medical Center, Seoul, South Korea Gorham-Stout disease is a rare bone disorder characterized by angiomatous proliferation resulting in destruction and resorption of osseous matrix. It has a variable presentation as a number of different sites may be affected including the dermis, soft tissue, and viscera. The involved cutaneous and soft tissue lesions typically present with spongy-like and soft brown-to-purple lesions. The clinical course is generally protracted with eventual stabilization of the affected bone, but rarely fatal. There is no standard treatment defined for this disease, and variable therapies such as medical, surgical, and radiation therapy have been used. We report a case of 24-year-old male with Gorham disease, who was presented with progressive cutaneous lesions adjacent to the diseased bone. On physical examination, he had scattered multiple erythematous to dark brownish colored, some depressed and some elevated, soft papules and patches on left leg, buttock, and back with severe lymphedema and yellowish colored, some verrucous surfaced, soft papules and nodules on the inguinal area with chylous discharges. Skin biopsy from left ankle showed numerous and irregular dilated endothelial-lined vessels in the dermis with positivity of D2-40 staining. The patient refused all the optional treatments and we continue to monitor him closely.
A 45-year-old African American female presented with a 1-2 month history of multiple facial lesions. The lesions were asymptomatic but were bothersome from a cosmetic standpoint due to location over the central face. Physical examination demonstrated multiple pink to yellow-brown 2-5 mm firm papules scattered over the forehead, malar cheeks, and nose. The lesions were treated with topical corticosteroids, intralesional corticosteroids, and topical calcineurin inhibitors without improvement. A punch biopsy was consistent with a xanthogranulomatous infiltrate favoring xanthogranuloma of adult type. An ophthalmologic examination was normal. Flattening of the lesions was appreciated after a 3-week prednisone taper; however, the improvement was noted to be temporary. The patient was started on methotrexate 12.5 mg weekly. After approximately 3 months of treatment, the lesions greatly improved. A higher dose of 17.5 mg of methotrexate was not noted to add any further improvement over the next 3 months. This case demonstrates an unusual variant of xanthogranuloma—multiple adult xanthogranulomas. Few case reports have documented multiple xanthogranulomas in adults. Approximately 10% of juvenile xanthogranuloma cases manifest in adulthood. Most cases of the adult type are solitary and are removed at the time of biopsy, therefore limited data are available regarding clinical course and treatment outcomes for multiple lesions. Some literature reviews state that the majority of these lesions do not undergo spontaneous resolution as is the rule for the juvenile variant of xanthogranuloma, but little data exists regarding treatment recommendations for the persistent lesions. One case report demonstrated improvement with isotretinoin. In contrast, another review stated that spontaneous regression was observed in 54% of cases with a median duration of 22 months and therefore recommended limiting systemic therapy. No consensus exists regarding expectation for spontaneous resolution or for treatment in chronic cases. Because this entity commonly presents on the head and neck and can be very cosmetically disfiguring to patients, treatment options are needed for the persistent cases of multiple xanthogranulomas in adults. This case report adds to our knowledge of a rarely reported entity and demonstrates a potential area for further treatment investigation.
Commercial support: None identified.
Commercial support: None identified.
917
MAY 2015
J AM ACAD DERMATOL
AB35