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Hypopigmented mycosis fungoides in children1
P514
P516
CUTANEOUS OSSIFICATION IN AN INFANT Divya Railan, MD, Indiana University, Indianapolis, IN, United States, Bryan Zweig, BS, Indiana University, Indianapolis, IN, United States, Patricia Treadwell, MD, Indiana University, Indianapolis, IN, United States The presentation of cutaneous ossification in infancy is an extremely rare ocurrence. We describe a case of a 5 month old baby boy with a history of hardened skin lesions on the right leg and left ankle since infancy. Radiologic studies performed at an outside hospital had revealed cutaneous and subcutaneous calcifications. Past medical history was significant for hypoglycemia and hypothyroidism immediately after birth. The episode of hypoglycemia spontaneously resolved, but the patient continues to be treated with thyroid replacement therapy. Physical examination revealed a large for gestational age infant with firm, bound down, violaceous plaques on the right lateral leg and and left ankle. An extensive lab work up revealed elevated alkaline phosphatase with otherwise completely normal labs. A biospy with 3mm punch was obtained from two affected areas. Both specimens revealed osteoma cutis. Currently, the only two disorders known to cause cutaneous ossification in an infant are Albright hereditary osteodystrophy (AHO) and progressive osseus heteroplasia (POH). AHO is an autosomal dominant disorder with variable symptoms characterized by subcutaneous and cutaneous ossification, pseudohypoparathyroidism type 1A, multiple endocrine abnormalities, obesity, round facies, brachydactyly and mental retardation. POH is a disorder of osteogenic induction characterized by intramembranous ossification of subcutaneous and cutaneous ossification in infancy with progressive ossification of connective tissue and muscle. The disorder is also characterized by absence of endocrine abnormalities and skeletal abnormalities seen in similar diseases. POH was first described as a distinct disease in 1994 by Kaplan et. al. Seventeen case reports of POH have been published since that time. In our case, the pathology, lab results and history favor a diagnosis of POH. Although there is no current therapy available to treat POH, it is important for dermatologists to be aware of this disease and AHO as possible causes of cutaneous ossification in infancy.
RESPONSE OF ULCERATED PERINEAL HEMANGIOMAS TO BECAPLERMIN GEL Brandie J Metz, MD, Baylor College of Medicine, Houston, TX, United States, Denise Metry, MD, Baylor College of Medicine, Houston, TX, United States, Moise Levy, MD, Baylor College of Medicine, Houston, TX, United States Background: Hemangiomas are the most common tumors of infancy, and ulceration is the most common complication. Many treatments have been employed for hemangioma ulceration, although none are uniformly effective. A recent report described the successful use of becaplermin gel, a recombinant human platelet-derived growth factor, for an ulcerated hemangioma refractory to standard care. 0.01% becaplermin gel is approved in the United States for the treatment of lower extremity diabetic neuropathic ulers and has also been reported effective in facilitating the healing of pressure ulcers. We sought to further assess the responsiveness of hemangioma ulceration to becaplermin gel and to compare its cost to that of conventional modalities. Methods and Results: We report a case series of 8 infants treated with becaplermin gel for ulcerated perineal hemangiomas. All infants were seen between January and June of 2003 in the pediatric dermatology clinic at Texas Children’s Hospital. Rapid ulcer healing occurred in all patients within 3 to 21 days (average: 10.25 days). While the cost of becaplermin may initially seem prohibitive, comparison with traditional therapies with multiple follow-up visits and the long-term use of wound care reveals that it can actually be cost-effective. Conclusions: Becaplermin gel is a safe and effective treatment for hemangioma ulceration. The rapid healing achieved with becaplermin allows a reduction in the risk of secondary infection, pain and need for hospitalization, as well as the costs that often accumulate from multiple follow-up visits and long-term therapy. Disclosure not available at press time.
Disclosure not available at press time.
P515 NEUROFIBROMATOSIS TYPE 1, MASTOCYTOMA AND AUTISM Catharine M Walsh, MD, Department of Pediatric Medicine/Dermatology, Faculty of Medicine, University of Toronto, Toronto, ON, Canada, Pitiporn Suwattee, MD, Division of Dermatology, Department of Medicine, Faculty of Medicine, University of Toronto, Toronto, ON, Canada, Elena Pope, MD, Department of Paediatric Medicine/Dermatology, Faculty of Medicine, University of Toronto, Toronto, ON, Canada Our patient, a 6-year-old female is followed in the Dermatology Clinic for Neurofibromatosis Type 1 (NF-1). In addition, she was discovered to have autism and a mastocytoma. Family history is negative for NF-1 and autism. On examination, several well-circumscribed brown macules and multiple soft flesh coloured nodules were visualized. On the anterior left chest wall there was a 4 ⫻ 5cm subcutaneous swelling with ill-defined margins, consistent with a plexiform neurofibroma. In addition, a solitary reddish-brown papule was evident on her left buttock, which urticated upon stroking. Inguinal and axillary freckling were noted. MRI revealed multiple T2 high signal foci, seen throughout the cerebellum, basal ganglia and brainstem, extending into the spinal cord, findings in keeping with NF-1. Enhancement of the left optic nerve was evident, suggesting the presence of an optic glioma. A small, left-sided facial plexiform neurofibroma was visualized. Chromosomal analysis revealed a normal karyotype. Neurofibromatosis Type 1 is an autosomal dominant progressive multisystem disorder with a prevalence of 2 to 3 per 10,000. It is most commonly characterized by cafe´-au-lait macules, neurofibromas, intertriginous freckling, Lisch nodules and learning disabilities. Optic gliomas, malignant peripheral nerve sheath tumours, and characteristic osseous lesions may also be present. The NF-1 tumour suppressor gene (Nf1), located on chromosome 17q11.2, encodes neurofibromin, a GTPase-activating protein (GAP) for p21ras (Ras). Mast cells have been found to promote the growth of neurofibromas, as some of their mediators may act as growth factors. In addition, there is a significant increase in the number of mast cells in neurofibromas as compared with normal skin. Our patient represents an unusual case of NF-1 with associated autism and mastocytoma. The presence of mastocytoma may be a trigger for the progression of this patient’s neurofibromatosis, and close follow-up is necessary. References: 1. Gutmann DH, Aylsworth A, Carey JC, Korf B, Marks J, Pyeritz RE, Rubenstein A, Viskochil D. The Diagnostic Evaluation and Multidisciplinary Management of Neurofibromatosis 1 and Neurofibromatosis 2. JAMA. 1997;278:51-57 2. Nurnberger M, Moll I. Semiquantitative aspects of mast cells in normal skin and in neurofibromas of neurofibromatosis types 1 and 5. Dermatology. 188(4):296-9, 1994. 3. Riccardi VM. Mast-cell stabilization to decrease neurofibroma growth. Arch Dermatol. 1987 Aug;123(8):1011-6. 4. Young H. Hyman S. North K. Neurofibromatosis 1: clinical review and exceptions to the rules. J Child Neurol. 2002 Aug;17(8):613-21.
HYPOPIGMENTED MYCOSIS FUNGOIDES IN CHILDREN Allison G Zysman, MD, SUNY Downstate Medical Center, Brooklyn, NY, United States, Dina N. Anderson, MD, SUNY Downstate Medical Center, Brooklyn, NY, United States, Sharon A. Glick, MD, SUNY Downstate Medical Center, Brooklyn, NY, United States, Yelva Lynfield, MD, SUNY Downstate Medical Center, Brooklyn, NY, United States Hypopigmentation has been well recognized in mycosis fungoides (MF), although it was originally thought to occur only in association with poikiloderma vasculare atrophicans or as a result of therapy-induced regression of lesions. During the last two decades, hypopigmentation as an initial clinical presentation of mycosis fungoides has been classified as a rare variant in the spectrum of cutaneous T cell lymphomas. Hypopigmented mycosis fungoides is a distinct subgroup of MF with distinguishing features, including a younger age of onset, a predilection for dark-skinn´ ed individuals, a characteristic histology, and a slow progression with an overall benign clinical course. A strong suspicion is necessary to diagnosis hypopigmented mycosis fungoides as its clinical presentation closely mimics other more common dermatoses. We present a case series of 13 patients from Kings County Hospital Center, State University of New York Downstate Medical Center, and Brookdale Hospital diagnosed with hypopigmented mycosis fungoides based on clinical presentation and histopathologic findings from 1993-2002. We will review the characteristic clinical and histopathologic features, management, clinical course, and follow-up of hypopigmented mycosis fungoides.
Disclosure not available at press time.
Disclosure not available at press time.
MARCH 2004
P517
J AM ACAD DERMATOL
P133
P516
CUTANEOUS OSSIFICATION IN AN INFANT Divya Railan, MD, Indiana University, Indianapolis, IN, United States, Bryan Zweig, BS, Indiana University, Indianapolis, IN, United States, Patricia Treadwell, MD, Indiana University, Indianapolis, IN, United States The presentation of cutaneous ossification in infancy is an extremely rare ocurrence. We describe a case of a 5 month old baby boy with a history of hardened skin lesions on the right leg and left ankle since infancy. Radiologic studies performed at an outside hospital had revealed cutaneous and subcutaneous calcifications. Past medical history was significant for hypoglycemia and hypothyroidism immediately after birth. The episode of hypoglycemia spontaneously resolved, but the patient continues to be treated with thyroid replacement therapy. Physical examination revealed a large for gestational age infant with firm, bound down, violaceous plaques on the right lateral leg and and left ankle. An extensive lab work up revealed elevated alkaline phosphatase with otherwise completely normal labs. A biospy with 3mm punch was obtained from two affected areas. Both specimens revealed osteoma cutis. Currently, the only two disorders known to cause cutaneous ossification in an infant are Albright hereditary osteodystrophy (AHO) and progressive osseus heteroplasia (POH). AHO is an autosomal dominant disorder with variable symptoms characterized by subcutaneous and cutaneous ossification, pseudohypoparathyroidism type 1A, multiple endocrine abnormalities, obesity, round facies, brachydactyly and mental retardation. POH is a disorder of osteogenic induction characterized by intramembranous ossification of subcutaneous and cutaneous ossification in infancy with progressive ossification of connective tissue and muscle. The disorder is also characterized by absence of endocrine abnormalities and skeletal abnormalities seen in similar diseases. POH was first described as a distinct disease in 1994 by Kaplan et. al. Seventeen case reports of POH have been published since that time. In our case, the pathology, lab results and history favor a diagnosis of POH. Although there is no current therapy available to treat POH, it is important for dermatologists to be aware of this disease and AHO as possible causes of cutaneous ossification in infancy.
RESPONSE OF ULCERATED PERINEAL HEMANGIOMAS TO BECAPLERMIN GEL Brandie J Metz, MD, Baylor College of Medicine, Houston, TX, United States, Denise Metry, MD, Baylor College of Medicine, Houston, TX, United States, Moise Levy, MD, Baylor College of Medicine, Houston, TX, United States Background: Hemangiomas are the most common tumors of infancy, and ulceration is the most common complication. Many treatments have been employed for hemangioma ulceration, although none are uniformly effective. A recent report described the successful use of becaplermin gel, a recombinant human platelet-derived growth factor, for an ulcerated hemangioma refractory to standard care. 0.01% becaplermin gel is approved in the United States for the treatment of lower extremity diabetic neuropathic ulers and has also been reported effective in facilitating the healing of pressure ulcers. We sought to further assess the responsiveness of hemangioma ulceration to becaplermin gel and to compare its cost to that of conventional modalities. Methods and Results: We report a case series of 8 infants treated with becaplermin gel for ulcerated perineal hemangiomas. All infants were seen between January and June of 2003 in the pediatric dermatology clinic at Texas Children’s Hospital. Rapid ulcer healing occurred in all patients within 3 to 21 days (average: 10.25 days). While the cost of becaplermin may initially seem prohibitive, comparison with traditional therapies with multiple follow-up visits and the long-term use of wound care reveals that it can actually be cost-effective. Conclusions: Becaplermin gel is a safe and effective treatment for hemangioma ulceration. The rapid healing achieved with becaplermin allows a reduction in the risk of secondary infection, pain and need for hospitalization, as well as the costs that often accumulate from multiple follow-up visits and long-term therapy. Disclosure not available at press time.
Disclosure not available at press time.
P515 NEUROFIBROMATOSIS TYPE 1, MASTOCYTOMA AND AUTISM Catharine M Walsh, MD, Department of Pediatric Medicine/Dermatology, Faculty of Medicine, University of Toronto, Toronto, ON, Canada, Pitiporn Suwattee, MD, Division of Dermatology, Department of Medicine, Faculty of Medicine, University of Toronto, Toronto, ON, Canada, Elena Pope, MD, Department of Paediatric Medicine/Dermatology, Faculty of Medicine, University of Toronto, Toronto, ON, Canada Our patient, a 6-year-old female is followed in the Dermatology Clinic for Neurofibromatosis Type 1 (NF-1). In addition, she was discovered to have autism and a mastocytoma. Family history is negative for NF-1 and autism. On examination, several well-circumscribed brown macules and multiple soft flesh coloured nodules were visualized. On the anterior left chest wall there was a 4 ⫻ 5cm subcutaneous swelling with ill-defined margins, consistent with a plexiform neurofibroma. In addition, a solitary reddish-brown papule was evident on her left buttock, which urticated upon stroking. Inguinal and axillary freckling were noted. MRI revealed multiple T2 high signal foci, seen throughout the cerebellum, basal ganglia and brainstem, extending into the spinal cord, findings in keeping with NF-1. Enhancement of the left optic nerve was evident, suggesting the presence of an optic glioma. A small, left-sided facial plexiform neurofibroma was visualized. Chromosomal analysis revealed a normal karyotype. Neurofibromatosis Type 1 is an autosomal dominant progressive multisystem disorder with a prevalence of 2 to 3 per 10,000. It is most commonly characterized by cafe´-au-lait macules, neurofibromas, intertriginous freckling, Lisch nodules and learning disabilities. Optic gliomas, malignant peripheral nerve sheath tumours, and characteristic osseous lesions may also be present. The NF-1 tumour suppressor gene (Nf1), located on chromosome 17q11.2, encodes neurofibromin, a GTPase-activating protein (GAP) for p21ras (Ras). Mast cells have been found to promote the growth of neurofibromas, as some of their mediators may act as growth factors. In addition, there is a significant increase in the number of mast cells in neurofibromas as compared with normal skin. Our patient represents an unusual case of NF-1 with associated autism and mastocytoma. The presence of mastocytoma may be a trigger for the progression of this patient’s neurofibromatosis, and close follow-up is necessary. References: 1. Gutmann DH, Aylsworth A, Carey JC, Korf B, Marks J, Pyeritz RE, Rubenstein A, Viskochil D. The Diagnostic Evaluation and Multidisciplinary Management of Neurofibromatosis 1 and Neurofibromatosis 2. JAMA. 1997;278:51-57 2. Nurnberger M, Moll I. Semiquantitative aspects of mast cells in normal skin and in neurofibromas of neurofibromatosis types 1 and 5. Dermatology. 188(4):296-9, 1994. 3. Riccardi VM. Mast-cell stabilization to decrease neurofibroma growth. Arch Dermatol. 1987 Aug;123(8):1011-6. 4. Young H. Hyman S. North K. Neurofibromatosis 1: clinical review and exceptions to the rules. J Child Neurol. 2002 Aug;17(8):613-21.
HYPOPIGMENTED MYCOSIS FUNGOIDES IN CHILDREN Allison G Zysman, MD, SUNY Downstate Medical Center, Brooklyn, NY, United States, Dina N. Anderson, MD, SUNY Downstate Medical Center, Brooklyn, NY, United States, Sharon A. Glick, MD, SUNY Downstate Medical Center, Brooklyn, NY, United States, Yelva Lynfield, MD, SUNY Downstate Medical Center, Brooklyn, NY, United States Hypopigmentation has been well recognized in mycosis fungoides (MF), although it was originally thought to occur only in association with poikiloderma vasculare atrophicans or as a result of therapy-induced regression of lesions. During the last two decades, hypopigmentation as an initial clinical presentation of mycosis fungoides has been classified as a rare variant in the spectrum of cutaneous T cell lymphomas. Hypopigmented mycosis fungoides is a distinct subgroup of MF with distinguishing features, including a younger age of onset, a predilection for dark-skinn´ ed individuals, a characteristic histology, and a slow progression with an overall benign clinical course. A strong suspicion is necessary to diagnosis hypopigmented mycosis fungoides as its clinical presentation closely mimics other more common dermatoses. We present a case series of 13 patients from Kings County Hospital Center, State University of New York Downstate Medical Center, and Brookdale Hospital diagnosed with hypopigmented mycosis fungoides based on clinical presentation and histopathologic findings from 1993-2002. We will review the characteristic clinical and histopathologic features, management, clinical course, and follow-up of hypopigmented mycosis fungoides.
Disclosure not available at press time.
Disclosure not available at press time.
MARCH 2004
P517
J AM ACAD DERMATOL
P133