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 © 2001-05, DermAtlas | Image Name: | Neurofibroma_plexiform_1_051205 | File Type: | jpg | |
| Diagnosis: | NEUROFIBROMA, PLEXIFORM / NEUROFIBROMATOSIS / NEUROFIBROMA | Category: | lumps & bumps (plaques, nodules, tumors) / genodermatosis/genetic disorder | ||
| Body Site: | face / cheek | Age: | 12 years | ||
| Contributor: | Nikolaos Sferopoulos, MD | ||||
| Description: | 10 cm soft subcutaneous tumor | ||||
| Comments: | This 12-year-old girl had multiple café au lait macules and a large spongy subcutaneous tumor of the right side of the face. | ||||
 © 2001-05, DermAtlas | Image Name: | Neurofibromatosis_1_050525 | File Type: | jpg | |
| Diagnosis: | NEUROFIBROMATOSIS / NEUROFIBROMA / CAFé AU LAIT SPOT | Category: | lumps & bumps (plaques, nodules, tumors) / genodermatosis/genetic disorder | ||
| Body Site: | trunk / arm / leg | Age: | 20 years | ||
| Contributor: | Yahia Albaili, DO | ||||
| Description: | multiple generalized soft nodules and tumors and well demarcated brown macules and patches | ||||
| Comments: | This 20-year-old man developed multiple generalized soft hyperpigmented nodules associated with multiple café au lait macules. | ||||
| Related Images: | Neurofibromatosis_3_050525 | ||||
 © 2001-05, DermAtlas | Image Name: | Neurofibromatosis_3_050525 | File Type: | jpg | |
| Diagnosis: | NEUROFIBROMATOSIS / NEUROFIBROMA / CAFé AU LAIT SPOT | Category: | lumps & bumps (plaques, nodules, tumors) / genodermatosis/genetic disorder | ||
| Body Site: | trunk / arm / leg | Age: | 20 years | ||
| Contributor: | Yahia Albaili, DO | ||||
| Description: | multiple generalized soft nodules and tumors and well demarcated brown macules and patches | ||||
| Comments: | This 20-year-old man developed multiple generalized soft hyperpigmented nodules associated with multiple café au lait macules. | ||||
| Related Images: | Neurofibromatosis_1_050525 | ||||
 © 2001-05, DermAtlas | Image Name: | neurofibromatosis_4_050407 | File Type: | jpg | |
| Diagnosis: | NEUROFIBROMA / NEUROFIBROMATOSIS | Category: | genodermatosis/genetic disorder / hyperpigmentation / lumps & bumps (plaques, nodules, tumors) | ||
| Body Site: | hand | Age: | 25 years | ||
| Contributor: | David Cowan | ||||
| Description: | 5 cm soft spongy subcutaneous mass with overlying brown patch | ||||
| Comments: | This 25-year-old woman complained of pruritic papules on her arms, legs, and trunk for 3 years. The lesions continued to grow in size and number. She denied seizures, visual disturbances, or abdominal pain. Her son had multiple café au lait macules. Neurofibromatosis Type 1 is an autosomal dominant disease that occurs with an incidence of 1/3000 individuals. Mutations in the NF1 gene, which usually cause truncations of the neurofibromin protein are responsible for the cutaneous, orthopedic, and neurologic manifestations. Neurofibromin functions as a tumor suppressor molecule, downregulating p21-Ras protooncogene activity, and subsequently proliferation. Fifty percent of patients have a de novo mutation, but among patients with inherited mutations, the clinically variability is tremendous despite a high penetrance. The cardinal features of this disorder are multiple neurofibromas, café au lait spots, axillary and inguinal freckling, and pigmented iris hamartomas (Lisch nodules). Although the disease may run a relatively benign course in some, other patients develop complications ranging from blindness, to boney abnormalities requiring amputation, to malignancies. Two thirds of patients with optic gliomas (tumors involving any part of the optic nerve tract) are asymptomatic, and the tumors demonstrate non-malignant behavior while a small percentage develop progressive vision loss. Patients often demonstrate learning disabilities and symptoms of ADHD (attention deficit hyperactivity disorder). Bone lesions, which include sphenoid bone dysplasia (erosion of the posterior orbital wall) and pseudoarthrosis (long-bone bowing), are common. Additionally, patients may suffer from hypertension due to renal artery stenosis and pheochromocytomas. The diagnostic criteria for neurofibromatosis 1 are two or more of the following: • Six or more café au lait macules over 5 mm in greatest diameter in prepubertal individuals and over 15 mm in postpubertal individuals. • Two or more neurofibromas of any type, or one plexiform neurofibroma. • Freckling in the axillary or inguinal regions. • Optic glioma. • Two or more Lisch nodules (iris hamartomas). • A distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex with or without pseudoarthrosis. • A first-degree relative (parent, sibling, or offspring) with NF1 by the above criteria. Management of this patient population requires an interdisciplinary approach, which varies with clinical findings. Most authors now support a clinical follow-up based approach which uses symptom-based diagnostic examinations in place of routine screening in asymptomatic patients. This approach includes yearly history and physical examinations with blood pressure screening and further work up directed by individual patient symptoms. There are currently no standard therapies offered for NF patients, however there are reports of ketotifen, a mast cell stabilizing agent, leading to improvement in pruritus and decreased rate of growth of neurofibromas. References: 1. Drappier J, Khosrotehrani K, Zeller J, Revuz J, Wolkenstein P. Medical management of neurofibromatosis 1: A cross-sectional study of 383 patients. J Am Acad Derm 2003; 49:440 – 444. 2. Pletcher BA. Neurofibromatosis. In eMedicine, Krantz I, Konop R, Feld LG, Petry PD, Buehler B (eds). www.emedicine.com/ped/topic2418.htm 3. Pivnic EM, Riccardi VM. Neurofibromatoses. In Fitzpatrick’s Dermatology in General Medicine, Freedberg IM, Eiser AZ, Wolff K, Austen KF, Goldsmith LA, Katz SI eds. Volume 2. 6th Edition. Page 1825-1830. 4. Ricarrdi VM. Mast-cell stabilization to decrease neurofibroma growth. Preliminary experience with ketotifen. Arch Dermatol 1987;8:1011-16. | ||||
| Related Images: | All related Images neurofibromatosis_3_050407 neurofibromatosis_2_050407 neurofibromatosis_1_050407 | ||||
 © 2001-05, DermAtlas | Image Name: | neurofibromatosis_1_050407 | File Type: | jpg | |
| Diagnosis: | NEUROFIBROMA / NEUROFIBROMATOSIS | Category: | genodermatosis/genetic disorder / hyperpigmentation / lumps & bumps (plaques, nodules, tumors) | ||
| Body Site: | hand | Age: | 25 years | ||
| Contributor: | David Cowan | ||||
| Description: | Thin wavy fibers lay in loosely textured stands extending in various directions. The changes are typical of neruofibroma. | ||||
| Comments: | This 25-year-old woman complained of pruritic papules on her arms, legs, and trunk for 3 years. The lesions continued to grow in size and number. She denied seizures, visual disturbances, or abdominal pain. Her son had multiple café au lait macules. Neurofibromatosis Type 1 is an autosomal dominant disease that occurs with an incidence of 1/3000 individuals. Mutations in the NF1 gene, which usually cause truncations of the neurofibromin protein are responsible for the cutaneous, orthopedic, and neurologic manifestations. Neurofibromin functions as a tumor suppressor molecule, downregulating p21-Ras protooncogene activity, and subsequently proliferation. Fifty percent of patients have a de novo mutation, but among patients with inherited mutations, the clinically variability is tremendous despite a high penetrance. The cardinal features of this disorder are multiple neurofibromas, café au lait spots, axillary and inguinal freckling, and pigmented iris hamartomas (Lisch nodules). Although the disease may run a relatively benign course in some, other patients develop complications ranging from blindness, to boney abnormalities requiring amputation, to malignancies. Two thirds of patients with optic gliomas (tumors involving any part of the optic nerve tract) are asymptomatic, and the tumors demonstrate non-malignant behavior while a small percentage develop progressive vision loss. Patients often demonstrate learning disabilities and symptoms of ADHD (attention deficit hyperactivity disorder). Bone lesions, which include sphenoid bone dysplasia (erosion of the posterior orbital wall) and pseudoarthrosis (long-bone bowing), are common. Additionally, patients may suffer from hypertension due to renal artery stenosis and pheochromocytomas. The diagnostic criteria for neurofibromatosis 1 are two or more of the following: • Six or more café au lait macules over 5 mm in greatest diameter in prepubertal individuals and over 15 mm in postpubertal individuals. • Two or more neurofibromas of any type, or one plexiform neurofibroma. • Freckling in the axillary or inguinal regions. • Optic glioma. • Two or more Lisch nodules (iris hamartomas). • A distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex with or without pseudoarthrosis. • A first-degree relative (parent, sibling, or offspring) with NF1 by the above criteria. Management of this patient population requires an interdisciplinary approach, which varies with clinical findings. Most authors now support a clinical follow-up based approach which uses symptom-based diagnostic examinations in place of routine screening in asymptomatic patients. This approach includes yearly history and physical examinations with blood pressure screening and further work up directed by individual patient symptoms. There are currently no standard therapies offered for NF patients, however there are reports of ketotifen, a mast cell stabilizing agent, leading to improvement in pruritus and decreased rate of growth of neurofibromas. References: 1. Drappier J, Khosrotehrani K, Zeller J, Revuz J, Wolkenstein P. Medical management of neurofibromatosis 1: A cross-sectional study of 383 patients. J Am Acad Derm 2003; 49:440 – 444. 2. Pletcher BA. Neurofibromatosis. In eMedicine, Krantz I, Konop R, Feld LG, Petry PD, Buehler B (eds). www.emedicine.com/ped/topic2418.htm 3. Pivnic EM, Riccardi VM. Neurofibromatoses. In Fitzpatrick’s Dermatology in General Medicine, Freedberg IM, Eiser AZ, Wolff K, Austen KF, Goldsmith LA, Katz SI eds. Volume 2. 6th Edition. Page 1825-1830. 4. Ricarrdi VM. Mast-cell stabilization to decrease neurofibroma growth. Preliminary experience with ketotifen. Arch Dermatol 1987;8:1011-16. | ||||
| Related Images: | All related Images neurofibromatosis_3_050407 neurofibromatosis_2_050407 neurofibromatosis_4_050407 | ||||
 © 2001-05, DermAtlas | Image Name: | neurofibromatosis_2_050407 | File Type: | jpg | |
| Diagnosis: | NEUROFIBROMA / NEUROFIBROMATOSIS | Category: | genodermatosis/genetic disorder / hyperpigmentation / lumps & bumps (plaques, nodules, tumors) | ||
| Body Site: | hand | Age: | 25 years | ||
| Contributor: | David Cowan | ||||
| Description: | Thin wavy fibers lay in loosely textured stands extending in various directions. The changes are typical of neruofibroma. | ||||
| Comments: | This 25-year-old woman complained of pruritic papules on her arms, legs, and trunk for 3 years. The lesions continued to grow in size and number. She denied seizures, visual disturbances, or abdominal pain. Her son had multiple café au lait macules. Neurofibromatosis Type 1 is an autosomal dominant disease that occurs with an incidence of 1/3000 individuals. Mutations in the NF1 gene, which usually cause truncations of the neurofibromin protein are responsible for the cutaneous, orthopedic, and neurologic manifestations. Neurofibromin functions as a tumor suppressor molecule, downregulating p21-Ras protooncogene activity, and subsequently proliferation. Fifty percent of patients have a de novo mutation, but among patients with inherited mutations, the clinically variability is tremendous despite a high penetrance. The cardinal features of this disorder are multiple neurofibromas, café au lait spots, axillary and inguinal freckling, and pigmented iris hamartomas (Lisch nodules). Although the disease may run a relatively benign course in some, other patients develop complications ranging from blindness, to boney abnormalities requiring amputation, to malignancies. Two thirds of patients with optic gliomas (tumors involving any part of the optic nerve tract) are asymptomatic, and the tumors demonstrate non-malignant behavior while a small percentage develop progressive vision loss. Patients often demonstrate learning disabilities and symptoms of ADHD (attention deficit hyperactivity disorder). Bone lesions, which include sphenoid bone dysplasia (erosion of the posterior orbital wall) and pseudoarthrosis (long-bone bowing), are common. Additionally, patients may suffer from hypertension due to renal artery stenosis and pheochromocytomas. The diagnostic criteria for neurofibromatosis 1 are two or more of the following: • Six or more café au lait macules over 5 mm in greatest diameter in prepubertal individuals and over 15 mm in postpubertal individuals. • Two or more neurofibromas of any type, or one plexiform neurofibroma. • Freckling in the axillary or inguinal regions. • Optic glioma. • Two or more Lisch nodules (iris hamartomas). • A distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex with or without pseudoarthrosis. • A first-degree relative (parent, sibling, or offspring) with NF1 by the above criteria. Management of this patient population requires an interdisciplinary approach, which varies with clinical findings. Most authors now support a clinical follow-up based approach which uses symptom-based diagnostic examinations in place of routine screening in asymptomatic patients. This approach includes yearly history and physical examinations with blood pressure screening and further work up directed by individual patient symptoms. There are currently no standard therapies offered for NF patients, however there are reports of ketotifen, a mast cell stabilizing agent, leading to improvement in pruritus and decreased rate of growth of neurofibromas. References: 1. Drappier J, Khosrotehrani K, Zeller J, Revuz J, Wolkenstein P. Medical management of neurofibromatosis 1: A cross-sectional study of 383 patients. J Am Acad Derm 2003; 49:440 – 444. 2. Pletcher BA. Neurofibromatosis. In eMedicine, Krantz I, Konop R, Feld LG, Petry PD, Buehler B (eds). www.emedicine.com/ped/topic2418.htm 3. Pivnic EM, Riccardi VM. Neurofibromatoses. In Fitzpatrick’s Dermatology in General Medicine, Freedberg IM, Eiser AZ, Wolff K, Austen KF, Goldsmith LA, Katz SI eds. Volume 2. 6th Edition. Page 1825-1830. 4. Ricarrdi VM. Mast-cell stabilization to decrease neurofibroma growth. Preliminary experience with ketotifen. Arch Dermatol 1987;8:1011-16. | ||||
| Related Images: | All related Images neurofibromatosis_3_050407 neurofibromatosis_1_050407 neurofibromatosis_4_050407 | ||||
 © 2001-05, DermAtlas | Image Name: | neurofibromatosis_3_050407 | File Type: | jpg | |
| Diagnosis: | NEUROFIBROMA / NEUROFIBROMATOSIS | Category: | genodermatosis/genetic disorder / hyperpigmentation / lumps & bumps (plaques, nodules, tumors) | ||
| Body Site: | hand | Age: | 25 years | ||
| Contributor: | David Cowan | ||||
| Description: | Thin wavy fibers lay in loosely textured stands extending in various directions. The changes are typical of neruofibroma. | ||||
| Comments: | This 25-year-old woman complained of pruritic papules on her arms, legs, and trunk for 3 years. The lesions continued to grow in size and number. She denied seizures, visual disturbances, or abdominal pain. Her son had multiple café au lait macules. Neurofibromatosis Type 1 is an autosomal dominant disease that occurs with an incidence of 1/3000 individuals. Mutations in the NF1 gene, which usually cause truncations of the neurofibromin protein are responsible for the cutaneous, orthopedic, and neurologic manifestations. Neurofibromin functions as a tumor suppressor molecule, downregulating p21-Ras protooncogene activity, and subsequently proliferation. Fifty percent of patients have a de novo mutation, but among patients with inherited mutations, the clinically variability is tremendous despite a high penetrance. The cardinal features of this disorder are multiple neurofibromas, café au lait spots, axillary and inguinal freckling, and pigmented iris hamartomas (Lisch nodules). Although the disease may run a relatively benign course in some, other patients develop complications ranging from blindness, to boney abnormalities requiring amputation, to malignancies. Two thirds of patients with optic gliomas (tumors involving any part of the optic nerve tract) are asymptomatic, and the tumors demonstrate non-malignant behavior while a small percentage develop progressive vision loss. Patients often demonstrate learning disabilities and symptoms of ADHD (attention deficit hyperactivity disorder). Bone lesions, which include sphenoid bone dysplasia (erosion of the posterior orbital wall) and pseudoarthrosis (long-bone bowing), are common. Additionally, patients may suffer from hypertension due to renal artery stenosis and pheochromocytomas. The diagnostic criteria for neurofibromatosis 1 are two or more of the following: • Six or more café au lait macules over 5 mm in greatest diameter in prepubertal individuals and over 15 mm in postpubertal individuals. • Two or more neurofibromas of any type, or one plexiform neurofibroma. • Freckling in the axillary or inguinal regions. • Optic glioma. • Two or more Lisch nodules (iris hamartomas). • A distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex with or without pseudoarthrosis. • A first-degree relative (parent, sibling, or offspring) with NF1 by the above criteria. Management of this patient population requires an interdisciplinary approach, which varies with clinical findings. Most authors now support a clinical follow-up based approach which uses symptom-based diagnostic examinations in place of routine screening in asymptomatic patients. This approach includes yearly history and physical examinations with blood pressure screening and further work up directed by individual patient symptoms. There are currently no standard therapies offered for NF patients, however there are reports of ketotifen, a mast cell stabilizing agent, leading to improvement in pruritus and decreased rate of growth of neurofibromas. References: 1. Drappier J, Khosrotehrani K, Zeller J, Revuz J, Wolkenstein P. Medical management of neurofibromatosis 1: A cross-sectional study of 383 patients. J Am Acad Derm 2003; 49:440 – 444. 2. Pletcher BA. Neurofibromatosis. In eMedicine, Krantz I, Konop R, Feld LG, Petry PD, Buehler B (eds). www.emedicine.com/ped/topic2418.htm 3. Pivnic EM, Riccardi VM. Neurofibromatoses. In Fitzpatrick’s Dermatology in General Medicine, Freedberg IM, Eiser AZ, Wolff K, Austen KF, Goldsmith LA, Katz SI eds. Volume 2. 6th Edition. Page 1825-1830. 4. Ricarrdi VM. Mast-cell stabilization to decrease neurofibroma growth. Preliminary experience with ketotifen. Arch Dermatol 1987;8:1011-16. | ||||
| Related Images: | All related Images neurofibromatosis_2_050407 neurofibromatosis_1_050407 neurofibromatosis_4_050407 | ||||
 © 2001-05, DermAtlas | Image Name: | neurofibroma_1_050326 | File Type: | jpg | |
| Diagnosis: | NEUROFIBROMA / NEUROFIBROMATOSIS | Category: | congenital malformation / genodermatosis/genetic disorder / neonatal dermatology | ||
| Body Site: | foot / heel | Age: | 5 months | ||
| Contributor: | Bernard Cohen, MD | ||||
| Description: | soft spongy 2 cm subcutaneous mass | ||||
| Comments: | This healthy 5-month-old girl with normal growth and development had a soft spongy mass on the right heel at birth. She also had multiple café au lait macules, a prominent forehead, and head circumference above the 95%ile. A skin biopsy of the foot lesion showed a neurofibroma. The family history was negative for neurofibromatosis. | ||||
| Related Images: | neurofibroma_2_050326 | ||||
 © 2001-05, DermAtlas | Image Name: | neurofibroma_2_050326 | File Type: | jpg | |
| Diagnosis: | NEUROFIBROMA / NEUROFIBROMATOSIS | Category: | congenital malformation / genodermatosis/genetic disorder / neonatal dermatology | ||
| Body Site: | foot / heel | Age: | 5 months | ||
| Contributor: | Bernard Cohen, MD | ||||
| Description: | soft spongy 2 cm subcutaneous mass | ||||
| Comments: | This healthy 5-month-old girl with normal growth and development had a soft spongy mass on the right heel at birth. She also had multiple café au lait macules, a prominent forehead, and head circumference above the 95%ile. A skin biopsy of the foot lesion showed a neurofibroma. The family history was negative for neurofibromatosis. | ||||
| Related Images: | neurofibroma_1_050326 | ||||
 © 2001-05, DermAtlas | Image Name: | neurofibromatosis_1_041012 | File Type: | jpg | |
| Diagnosis: | NEUROFIBROMA, PLEXIFORM / NEUROFIBROMATOSIS / NEUROFIBROMA | Category: | genodermatosis/genetic disorder / lumps & bumps (plaques, nodules, tumors) | ||
| Body Site: | hand / finger | Age: | 62 years | ||
| Contributor: | Bernard Cohen, MD | ||||
| Description: | large spongy subcutaneous tumor of the palm and the proximal fourth finger | ||||
| Comments: | This 62-year-old man, who had multiple café au lait macules at brith, began to develop small cutaneous neurofibromas shortly before puberty. The plexiform neurofibroma on hisleft hand had been present since birth and recurred after 2 surgical excisions. He also had Lisch nodules and orthopedic complications of neurofibromatosis type 1. | ||||
| Related Images: | All related Images neurofibromatosis_4_041012 neurofibromatosis_3_041012 neurofibromatosis_2_041012 | ||||
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© DermAtlas, Johns Hopkins University; 2000-2005
Bernard A. Cohen, MD, Christoph U. Lehmann, MD
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