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Hemophagocytic lymphohistiocytosis
P3025
P3027
Pitiriasis rubra pilaris exuberant type III in children Ana Maria Mosca de Cerqueira, MD, Hospital Municipal Jesus, Rio de Janeiro, Brazil; Cristiane Cassab Sasajima, MD, Hospital Municipal Jesus, Rio de Janeiro, Brazil; Joanna Pimenta de Ara ujo Franco, MD, Hospital Municipal Jesus, Rio de Janeiro, Brazil; Marlene Albuquerque Sessim, MD, Hospital Municipal Jesus, Rio de Janeiro, Brazil
EB nevi Megan Strand, MD, University of New Mexico Department of Dermatology, Albuquerque, NM, United States; Aimee Smidt, MD, University of New Mexico Department of Dermatology, Albuquerque, NM, United States Background: EB nevi have recently been reported in the literature and occur predominately in patients with recessive forms of epidermolysis bullosa.
Pityriasis rubra pilaris (PRP) is a rare scaly erythematous papules disorder, which shows two peaks at higher frequency, no predilection for sex or race, and a poorly understood etiology and pathogenesis. Several causes can be explained as a dysfunction of vitamin A, genetic factors, bacterial, and viral infections. Treatment can be preformed with oral retinoids, methotrexate (MTX), and phototherapy. Steroids are ineffective. Male patient, 2 years old, white, born in Rio de Janeiro. After infection of the upper airway, presented erythematous papular scaly scalp and face, follicular lesions in abdomen, limbs and desquamation plantar palmar. Histopathologic diagnosis revealed acanthosis, parakeratotic hyperkeratosis in the follicular ostia, and hypergranulosis mononuclear infiltrate. Initiate acitretin for a month, with no response to treatment and worsening of the lesions. The use of MTX as a second choice was satisfactory after 2 weeks and total regression of lesions after 2 months. Griffiths divided PRP into five categories: I, classic adult, is the most common, show an eruption of follicular hyperkeratotic papules, orange scales, islands of unaffected skin, diffuse palmoplantar keratoderma and nail changes; II, atypical adult, follicular hyperkeratosis and scaling ichthyosiform especially in lower limbs; III, classic juvenile show all the findings of type I and associated with acute upper airway infection—the prognosis is generally good; however, extensive peeling and rash can lead with high morbidity; IV, circumscribed juvenile, characterized by demarcated keratotic erythematous plaques on the elbows and knees; and V, atypical juvenile, chronic course, minimal erythema, and scleroderma-like of hands and feet. The diagnosis of pityriasis rubra pilaris type III, is difficult and often confused with bacterial infections, rash, and psoriasis. The therapy is controversial in children; studies show retinoids are the drug of choice. Because of clinical worsening and severity, we choice initiated oral MTX, which is an antimetabolite, dihydrofolate reductase and cell populations in growth phase inhibitor, and an antiinflammatory drug. We describe the use of MTX in resistant case of PRP, believing that the immunomodulating effects of the drug caused the regression of clinical status. The careful management of the disease, early diagnosis and immediate treatment are essential to decreases the progression of the disease and complications.
Case report: A 17-year-old male diagnosed with non-Herlitz JEB as a newborn presented to our clinic for evaluation. His blistering had improved since puberty. He and his father note that several nevi appeared when he was young and have not been significantly changing over time. On examination, he had scattered hemorrhagic bulla in addition to very large, atypical appearing nevi on the extremities and trunk, with the largest lesion affecting the right forearm. Dermoscopic evaluation showed a symmetric globular pigmentation network. His younger brother, a 10-year-old male, also presented with extensive blistering at birth and recurrent, extensive blistering involving the trunk and extremities. In addition, he had several large nevi that have been stable over a period of years. On examination, he had numerous tense bullae on the trunk and extremities, in addition to several large, atypical appearing nevi. Dermoscopy demonstrated regularly arrayed granules and globules. Discussion: EB nevi have been described in the literature in just over 20 patients. The majority appear in the first decade and are more common in recessively inherited forms of EB. Clinically, EB nevi are acquired, benign, and rapidly growing. They may simulate malignant melanoma with atypical features. They tend to be multiple and eruptive at sites of trauma. Both benign and seemingly malignant patterns have been described on dermoscopy. On pathology, these are benignappearing compound or dermal melanocytic proliferations, often with a congenital pattern. There currently are two major theories on the pathogenesis of EB nevi, including a Koebner phenomenon and seeding of the blister cavity by preexisting nevus cells. Management recommendations have not been clearly defined. No cases of malignant transformation have been reported, but this may be because of the small number of cases have in the literature. In addition, patients with JEB may be at higher risk for carcinogenesis related to chronic wounding and regeneration. Conservative monitoring is currently recommended. Commercial support: None identified.
Commercial support: None identified.
P3028
P3026 Hemophagocytic lymphohistiocytosis Caroline Angit, MBBS, Alder Hey Hospital, Liverpool, United Kingdom; Eileen Baildam, MBBS, Alder Hey Hospital, Liverpool, United Kingdom; Julian L Verbov, MD, Alder Hey Hospital, Liverpool, United Kingdom; Richard A G Parslew, MBBS, Alder Hey Hospital, Liverpool, United Kingdom We report a rare case of haemophagocytic lymphohistiocytosis (HLH) presenting with raised inflammatory marker and skin eruption. An 8-year-old boy presented with a 2-week history of vomiting, fever, sore throat, and a skin eruption. His rash got worse after he was given erythromycin by his general practitioner. He had a medical history significant for diabetes insipidus and septooptic dysplasia with bilateral hypoplastic optic nerve and growth hormone deficiency. Examination revealed macular papular eruptions on his trunk and limbs. He was pyrexic. Investigations revealed cytopenia (anemia and thrombocytopenia), raised ferritin (47881 ng/mL), hypofibrinogenaemia (1 g/L), deranged liver function tests, hypertriglyceridemia (5.25 mm/L), and positive EBV PCR with a viral load log of4.29. Ultrasound showed splenomegaly and a chest radiograph CXR revealed bilateral perihilar bronchial wall thickening with inflammatory infiltrate. Bone marrow aspirate showed reactive marrow with increased myelopoeisis and his skin biopsy specimen was consistent with drug reaction and probable hemophagocytosis. His genetic analysis result is awaited. The presence of cytopenia, raised ferritin, splenomegaly, fever, and probable hemophagocytosis suggested a diagnosis of HLH, likely to be triggered by EBV virus infection. HLH is a rare, potentially fatal disease if not treated. It is characterized by overactive histiocytes and lymphocytes. It can be familial or acquired secondary to systemic infection, rheumatic disease, and malignancy. According to the revised criteria of the Histiocyte Society for HLH 2004, it can be diagnosed based on a molecular diagnosis or if five out of eight criteria are fulfilled: fever, splenomegaly, cytopenia, hypertriglyceridemia and or hypofibrinogenemia, hemophagocytosis, low or absent NK-cell activity, ferritin $ 500 mcg/L, and soluble CD25 $ 2400U/mL. Aims of management are to suppress the severe hyperinflammation and stem cell transplant to exchange the congenitally defective immune system. He was started on intravenous methylprednisolone and subsequently oral prednisolone and ciclosporin resulting in significant improvement in his inflammatory markers. Commercial support: None identified.
FEBRUARY 2011
Diffuse cutaneous mastocytosis in the lactating Ana Maria Mosca de Cerqueira, MD, Hospital Municipal Jesus, Rio de Janeiro, Brazil; Cecilia Argalji Feldman, MD, Policlinica Geral do Rio de Janeiro, Rio de Janeiro, Brazil; Izabel Kanaan, MD, Hospital Municipal Jesus, Rio de Janeiro, Brazil; Jose Ricardo Becerra Daza, MD, Policlinica Geral do Rio de Janeiro, Rio de Janeiro, Brazil Background: Mastocytosis is a relatively rare disorder in which occurs the proliferation and accumulation of mast cells within the tissues and principally within the skin. It presents with a large variety of signs and symptoms as consequence of the liberal release of diverse inflammatory mediators, such as histamine, heparine, leukotrines, and others. It is divided into a cutaneous and systemic form, with the cutaneous form being more frequently observed in children with urticaria pigmentosa, responsible for the majority of cases. The diffuse cutaneous form has a rare and serious presentation with difuse involvement, where all of the skin can be thickened and infiltrated by mast cells, at times causing intractable pruritis. Systemic involvement is common. When the clinical case is accompanied by lesions in the form of blisters, a false diagnosis can occur of epidermolise bolhosa or other blister related disorders. The Darier sign is strongly positive. With histopathologic examinations, mast cell infiltration observed will be extensive and uniform with the presence of vesicle and blisters at the dermis epidermis junction. Case report: An 8-month-old breastfeeding white male born in Rio de Janeiro presented with disseminated lesions that had been present since birth, brownish color, with ‘‘orange skin,’’ thickening, hives, areas with blisters, and strongly positive Darier sign. Histopathologic examination revealed intense infiltration of mast cells in the epidermis and dermis. An investigation into systemic involvement was performed through the use of laboratorial examinations and imaging, which did not indicate alterations except for eosinophilia and discrete anemia in blood count cells. In spite of extensive skin involvement the child was in good general state of health. The treatment with H1 and H2 blockers brought an improvement of pruritis and blister formation. Discussion: Difuse cutaneous mastocytosis is a rare disorder, and predominantly occurs in newborns and small children. It is also called Bolhosa mastocytosis because of the formation of blisters, principally in the areas of pressure points and trauma. Prognosis is reserved because of the possibility of systemic involvement being high. The organs most frequently compromised are the bone marrow and digestive system. This is related to these tissues possessing the same embryonic origin. At this moment, the patient is in good state of health with consistent medication and accompanied with regular medical supervision. Commercial support: None identified.
J AM ACAD DERMATOL
AB135
P3027
Pitiriasis rubra pilaris exuberant type III in children Ana Maria Mosca de Cerqueira, MD, Hospital Municipal Jesus, Rio de Janeiro, Brazil; Cristiane Cassab Sasajima, MD, Hospital Municipal Jesus, Rio de Janeiro, Brazil; Joanna Pimenta de Ara ujo Franco, MD, Hospital Municipal Jesus, Rio de Janeiro, Brazil; Marlene Albuquerque Sessim, MD, Hospital Municipal Jesus, Rio de Janeiro, Brazil
EB nevi Megan Strand, MD, University of New Mexico Department of Dermatology, Albuquerque, NM, United States; Aimee Smidt, MD, University of New Mexico Department of Dermatology, Albuquerque, NM, United States Background: EB nevi have recently been reported in the literature and occur predominately in patients with recessive forms of epidermolysis bullosa.
Pityriasis rubra pilaris (PRP) is a rare scaly erythematous papules disorder, which shows two peaks at higher frequency, no predilection for sex or race, and a poorly understood etiology and pathogenesis. Several causes can be explained as a dysfunction of vitamin A, genetic factors, bacterial, and viral infections. Treatment can be preformed with oral retinoids, methotrexate (MTX), and phototherapy. Steroids are ineffective. Male patient, 2 years old, white, born in Rio de Janeiro. After infection of the upper airway, presented erythematous papular scaly scalp and face, follicular lesions in abdomen, limbs and desquamation plantar palmar. Histopathologic diagnosis revealed acanthosis, parakeratotic hyperkeratosis in the follicular ostia, and hypergranulosis mononuclear infiltrate. Initiate acitretin for a month, with no response to treatment and worsening of the lesions. The use of MTX as a second choice was satisfactory after 2 weeks and total regression of lesions after 2 months. Griffiths divided PRP into five categories: I, classic adult, is the most common, show an eruption of follicular hyperkeratotic papules, orange scales, islands of unaffected skin, diffuse palmoplantar keratoderma and nail changes; II, atypical adult, follicular hyperkeratosis and scaling ichthyosiform especially in lower limbs; III, classic juvenile show all the findings of type I and associated with acute upper airway infection—the prognosis is generally good; however, extensive peeling and rash can lead with high morbidity; IV, circumscribed juvenile, characterized by demarcated keratotic erythematous plaques on the elbows and knees; and V, atypical juvenile, chronic course, minimal erythema, and scleroderma-like of hands and feet. The diagnosis of pityriasis rubra pilaris type III, is difficult and often confused with bacterial infections, rash, and psoriasis. The therapy is controversial in children; studies show retinoids are the drug of choice. Because of clinical worsening and severity, we choice initiated oral MTX, which is an antimetabolite, dihydrofolate reductase and cell populations in growth phase inhibitor, and an antiinflammatory drug. We describe the use of MTX in resistant case of PRP, believing that the immunomodulating effects of the drug caused the regression of clinical status. The careful management of the disease, early diagnosis and immediate treatment are essential to decreases the progression of the disease and complications.
Case report: A 17-year-old male diagnosed with non-Herlitz JEB as a newborn presented to our clinic for evaluation. His blistering had improved since puberty. He and his father note that several nevi appeared when he was young and have not been significantly changing over time. On examination, he had scattered hemorrhagic bulla in addition to very large, atypical appearing nevi on the extremities and trunk, with the largest lesion affecting the right forearm. Dermoscopic evaluation showed a symmetric globular pigmentation network. His younger brother, a 10-year-old male, also presented with extensive blistering at birth and recurrent, extensive blistering involving the trunk and extremities. In addition, he had several large nevi that have been stable over a period of years. On examination, he had numerous tense bullae on the trunk and extremities, in addition to several large, atypical appearing nevi. Dermoscopy demonstrated regularly arrayed granules and globules. Discussion: EB nevi have been described in the literature in just over 20 patients. The majority appear in the first decade and are more common in recessively inherited forms of EB. Clinically, EB nevi are acquired, benign, and rapidly growing. They may simulate malignant melanoma with atypical features. They tend to be multiple and eruptive at sites of trauma. Both benign and seemingly malignant patterns have been described on dermoscopy. On pathology, these are benignappearing compound or dermal melanocytic proliferations, often with a congenital pattern. There currently are two major theories on the pathogenesis of EB nevi, including a Koebner phenomenon and seeding of the blister cavity by preexisting nevus cells. Management recommendations have not been clearly defined. No cases of malignant transformation have been reported, but this may be because of the small number of cases have in the literature. In addition, patients with JEB may be at higher risk for carcinogenesis related to chronic wounding and regeneration. Conservative monitoring is currently recommended. Commercial support: None identified.
Commercial support: None identified.
P3028
P3026 Hemophagocytic lymphohistiocytosis Caroline Angit, MBBS, Alder Hey Hospital, Liverpool, United Kingdom; Eileen Baildam, MBBS, Alder Hey Hospital, Liverpool, United Kingdom; Julian L Verbov, MD, Alder Hey Hospital, Liverpool, United Kingdom; Richard A G Parslew, MBBS, Alder Hey Hospital, Liverpool, United Kingdom We report a rare case of haemophagocytic lymphohistiocytosis (HLH) presenting with raised inflammatory marker and skin eruption. An 8-year-old boy presented with a 2-week history of vomiting, fever, sore throat, and a skin eruption. His rash got worse after he was given erythromycin by his general practitioner. He had a medical history significant for diabetes insipidus and septooptic dysplasia with bilateral hypoplastic optic nerve and growth hormone deficiency. Examination revealed macular papular eruptions on his trunk and limbs. He was pyrexic. Investigations revealed cytopenia (anemia and thrombocytopenia), raised ferritin (47881 ng/mL), hypofibrinogenaemia (1 g/L), deranged liver function tests, hypertriglyceridemia (5.25 mm/L), and positive EBV PCR with a viral load log of4.29. Ultrasound showed splenomegaly and a chest radiograph CXR revealed bilateral perihilar bronchial wall thickening with inflammatory infiltrate. Bone marrow aspirate showed reactive marrow with increased myelopoeisis and his skin biopsy specimen was consistent with drug reaction and probable hemophagocytosis. His genetic analysis result is awaited. The presence of cytopenia, raised ferritin, splenomegaly, fever, and probable hemophagocytosis suggested a diagnosis of HLH, likely to be triggered by EBV virus infection. HLH is a rare, potentially fatal disease if not treated. It is characterized by overactive histiocytes and lymphocytes. It can be familial or acquired secondary to systemic infection, rheumatic disease, and malignancy. According to the revised criteria of the Histiocyte Society for HLH 2004, it can be diagnosed based on a molecular diagnosis or if five out of eight criteria are fulfilled: fever, splenomegaly, cytopenia, hypertriglyceridemia and or hypofibrinogenemia, hemophagocytosis, low or absent NK-cell activity, ferritin $ 500 mcg/L, and soluble CD25 $ 2400U/mL. Aims of management are to suppress the severe hyperinflammation and stem cell transplant to exchange the congenitally defective immune system. He was started on intravenous methylprednisolone and subsequently oral prednisolone and ciclosporin resulting in significant improvement in his inflammatory markers. Commercial support: None identified.
FEBRUARY 2011
Diffuse cutaneous mastocytosis in the lactating Ana Maria Mosca de Cerqueira, MD, Hospital Municipal Jesus, Rio de Janeiro, Brazil; Cecilia Argalji Feldman, MD, Policlinica Geral do Rio de Janeiro, Rio de Janeiro, Brazil; Izabel Kanaan, MD, Hospital Municipal Jesus, Rio de Janeiro, Brazil; Jose Ricardo Becerra Daza, MD, Policlinica Geral do Rio de Janeiro, Rio de Janeiro, Brazil Background: Mastocytosis is a relatively rare disorder in which occurs the proliferation and accumulation of mast cells within the tissues and principally within the skin. It presents with a large variety of signs and symptoms as consequence of the liberal release of diverse inflammatory mediators, such as histamine, heparine, leukotrines, and others. It is divided into a cutaneous and systemic form, with the cutaneous form being more frequently observed in children with urticaria pigmentosa, responsible for the majority of cases. The diffuse cutaneous form has a rare and serious presentation with difuse involvement, where all of the skin can be thickened and infiltrated by mast cells, at times causing intractable pruritis. Systemic involvement is common. When the clinical case is accompanied by lesions in the form of blisters, a false diagnosis can occur of epidermolise bolhosa or other blister related disorders. The Darier sign is strongly positive. With histopathologic examinations, mast cell infiltration observed will be extensive and uniform with the presence of vesicle and blisters at the dermis epidermis junction. Case report: An 8-month-old breastfeeding white male born in Rio de Janeiro presented with disseminated lesions that had been present since birth, brownish color, with ‘‘orange skin,’’ thickening, hives, areas with blisters, and strongly positive Darier sign. Histopathologic examination revealed intense infiltration of mast cells in the epidermis and dermis. An investigation into systemic involvement was performed through the use of laboratorial examinations and imaging, which did not indicate alterations except for eosinophilia and discrete anemia in blood count cells. In spite of extensive skin involvement the child was in good general state of health. The treatment with H1 and H2 blockers brought an improvement of pruritis and blister formation. Discussion: Difuse cutaneous mastocytosis is a rare disorder, and predominantly occurs in newborns and small children. It is also called Bolhosa mastocytosis because of the formation of blisters, principally in the areas of pressure points and trauma. Prognosis is reserved because of the possibility of systemic involvement being high. The organs most frequently compromised are the bone marrow and digestive system. This is related to these tissues possessing the same embryonic origin. At this moment, the patient is in good state of health with consistent medication and accompanied with regular medical supervision. Commercial support: None identified.
J AM ACAD DERMATOL
AB135