cafe au lait spots

Summary

Summary: Light brown pigmented macules associated with NEUROFIBROMATOSIS and Albright's syndrome (see FIBROUS DYSPLASIA, POLYOSTOTIC).

Top Publications

  1. ncbi Manifestations of the tongue in Neurofibromatosis type 1
    M R Bongiorno
    Department of Dermatology, University of Palermo, Palermo, Sicily, Italy
    Oral Dis 12:125-9. 2006
  2. pmc A child with axillary freckling and café au lait spots
    Stephen Wainer
    Department of Pediatrics, University of Calgary, Alberta Children s Hospital
    CMAJ 167:282-3. 2002
  3. ncbi [Pheochromocytoma associated with neurofibromatosis 1: a report of two cases]
    Futoshi Sano
    The Department of Urology, Fujisawa City Hospital
    Hinyokika Kiyo 51:793-5. 2005
  4. ncbi Neurofibromatosis type 1 in a pediatric population: Ste-Justine's experience
    J M Boulanger
    Division of Pediatric Neurology HSJ, Department of Pediatrics, Montreal University, Montreal, QC, Canada
    Can J Neurol Sci 32:225-31. 2005
  5. ncbi Partial unilateral lentiginosis with ipsilateral Lisch nodules and axillary freckling
    WenChieh Chen
    Department of Dermatology, Chang Gung University, Chang Gung Memorial Hospital, Kaohsiung, Taiwan
    Dermatology 209:321-4. 2004
  6. ncbi Fracture incidence in polyostotic fibrous dysplasia and the McCune-Albright syndrome
    Arabella I Leet
    Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland 20892 4320, USA
    J Bone Miner Res 19:571-7. 2004
  7. ncbi Tamoxifen treatment for precocious puberty in McCune-Albright syndrome: a multicenter trial
    Erica A Eugster
    James Whitcomb Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA
    J Pediatr 143:60-6. 2003
  8. ncbi Image diagnosis in McCune-Albright syndrome
    Claudio Defilippi
    Radiology Department, Regina Margherita Children s Hospital, Turin, Italy
    J Pediatr Endocrinol Metab 19:561-70. 2006
  9. ncbi A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots
    Darcy Whiteside
    Department of Medical Genetics, University of Alberta, Edmonton, Alberta, T6G 2H7 Canada
    Cancer Res 62:359-62. 2002
  10. ncbi Coexistence of Mayer-Rokitansky-Kuster-Hauser syndrome and neurofibromatosis type I
    Savas Yayli
    Department of Dermatology, Karadeniz Technical University, Medicine Faculty, Trabzon, Turkey
    Am J Clin Dermatol 9:57-60. 2008

Research Grants

Detail Information

Publications157 found, 100 shown here

  1. ncbi Manifestations of the tongue in Neurofibromatosis type 1
    M R Bongiorno
    Department of Dermatology, University of Palermo, Palermo, Sicily, Italy
    Oral Dis 12:125-9. 2006
    ..The aim of this study is to analyse alterations of the tongue and the correlation between these lesions and different types of tumor...
  2. pmc A child with axillary freckling and café au lait spots
    Stephen Wainer
    Department of Pediatrics, University of Calgary, Alberta Children s Hospital
    CMAJ 167:282-3. 2002
  3. ncbi [Pheochromocytoma associated with neurofibromatosis 1: a report of two cases]
    Futoshi Sano
    The Department of Urology, Fujisawa City Hospital
    Hinyokika Kiyo 51:793-5. 2005
    ..131I-MIBG scintigraphy showed an abnormal accumulation in the right adrenal gland. After this diagnosis of pheochromocytoma associated with NF1, open adrenalectomy was performed. No evidence of malignancy was seen in either case...
  4. ncbi Neurofibromatosis type 1 in a pediatric population: Ste-Justine's experience
    J M Boulanger
    Division of Pediatric Neurology HSJ, Department of Pediatrics, Montreal University, Montreal, QC, Canada
    Can J Neurol Sci 32:225-31. 2005
    ..To date, few pediatric series of neurofibromatosis type 1 (NF-1) have been described in the literature even though it is the most frequently encountered phakomatosis...
  5. ncbi Partial unilateral lentiginosis with ipsilateral Lisch nodules and axillary freckling
    WenChieh Chen
    Department of Dermatology, Chang Gung University, Chang Gung Memorial Hospital, Kaohsiung, Taiwan
    Dermatology 209:321-4. 2004
    ..This case provides further evidence in favor of the concept that partial unilateral lentiginosis represents a mosaic manifestation of type 1 neurofibromatosis...
  6. ncbi Fracture incidence in polyostotic fibrous dysplasia and the McCune-Albright syndrome
    Arabella I Leet
    Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland 20892 4320, USA
    J Bone Miner Res 19:571-7. 2004
    ..Phosphaturia is associated with an earlier incidence and increased frequency of fractures...
  7. ncbi Tamoxifen treatment for precocious puberty in McCune-Albright syndrome: a multicenter trial
    Erica A Eugster
    James Whitcomb Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA
    J Pediatr 143:60-6. 2003
    ..We undertook a 1-year multicenter trial of tamoxifen treatment for precocious puberty in girls with McCune-Albright syndrome (MAS)...
  8. ncbi Image diagnosis in McCune-Albright syndrome
    Claudio Defilippi
    Radiology Department, Regina Margherita Children s Hospital, Turin, Italy
    J Pediatr Endocrinol Metab 19:561-70. 2006
    ..Bone scintigraphy with technetium 99 is essential in the follow-up of the disease. Ultrasonography is very useful in ovarian cyst follow-up and in the detection of thyroid and adrenal nodules and testicular microlithiasis...
  9. ncbi A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots
    Darcy Whiteside
    Department of Medical Genetics, University of Alberta, Edmonton, Alberta, T6G 2H7 Canada
    Cancer Res 62:359-62. 2002
    ..Because the hematological malignancies observed in the individuals homozygous for the loss of MMR are reflective of the lymphomas seen in mice lacking MMR, the mice may provide a useful model for human neoplasia...
  10. ncbi Coexistence of Mayer-Rokitansky-Kuster-Hauser syndrome and neurofibromatosis type I
    Savas Yayli
    Department of Dermatology, Karadeniz Technical University, Medicine Faculty, Trabzon, Turkey
    Am J Clin Dermatol 9:57-60. 2008
    ..NF-1 and MRKH syndrome were diagnosed by physical examination and radiologic imaging. To our knowledge, this is the first report of coexistence of these rare genetic diseases in the literature...
  11. ncbi GNAS mutation detection is related to disease severity in girls with McCune-Albright syndrome and precocious puberty
    Heather A Wagoner
    Department of Pediatrics, Division of Endocrinology, Children s Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh PA 15213 2524, USA
    Pediatr Endocrinol Rev 4:395-400. 2007
    ..e. in partial forms of MAS. The utility of using peripheral blood for mutation analysis in this setting has not been thoroughly evaluated...
  12. ncbi Analysis of neurofibromatosis 1 (NF1) lesions by body segment
    Chana Palmer
    Department of Medical Genetics, The University of British Columbia, Vancouver, Canada
    Am J Med Genet A 125:157-61. 2004
    ..57). We conclude that the development of café-au-lait spots, cutaneous neurofibromas, and plexiform neurofibromas are spatially independent in NF1 patients but that the development of all three lesions is influenced by familial factors...
  13. ncbi [Clinical and molecular study of Chilean patients with McCune-Albright syndrome]
    R Roman
    Instituto de Investigaciones Materno Infantil, Facultad de Medicina, Universidad de Chile, Hospital San Borja Arriaran, Luis Calvo Mackenna, Hospital Clínico P Universidad Católica, Santiago, Chile
    Rev Med Chil 129:1365-72. 2001
    ..McCune-Albright Syndrome (MAS) is characterized by precocious puberty, "cafe au lait" skin lesions and polyostotic fibrous dysplasia. It is caused by 4 post-zygotic mutations of G alpha s protein with a mosaic distribution...
  14. ncbi Segmental unilateral lentiginosis in generalized neurofibromatosis type 1
    Roongroj Bhidayasiri
    Department of Neurology, Reed Neurological Research Institute, UCLA Medical Center, 710 Westwood Plaza, Los Angeles, CA 90095, USA
    Arch Neurol 59:1331-2. 2002
  15. ncbi Common hyperpigmentation disorders in adults: Part I. Diagnostic approach, café au lait macules, diffuse hyperpigmentation, sun exposure, and phototoxic reactions
    Daniel L Stulberg
    Utah Valley Family Practice Residency Program, Provo, Utah 84604, USA
    Am Fam Physician 68:1955-60. 2003
    ..Cosmetic treatment with bleaching agents or lasers can be used to decrease pigmentation of ephelides (freckles) and lentigines...
  16. ncbi A case of non-Hodgkin's lymphoma in a patient with neurofibromatosis type 1
    Seok Jin Kim
    Department of Internal Medicine, Pathology, Korea University College of Medicine, Seoul, Korea
    Korean J Intern Med 18:202-5. 2003
    ..Because non-Hodgkin's Lymphoma in a neurofibromatosis patient has never been reported in Korea, herein, we describe this case and include a review of the literature...
  17. ncbi The mechanism of epidermal hyperpigmentation in café-au-lait macules of neurofibromatosis type 1 (von Recklinghausen's disease) may be associated with dermal fibroblast-derived stem cell factor and hepatocyte growth factor
    M Okazaki
    Department of Plastic and Reconstructive Surgery, Graduate School of Medicine, University of Tokyo 7 3 1, Hongo, Tokyo 3 86SS, Japan
    Br J Dermatol 148:689-97. 2003
    ..The mechanism of the accentuated melanization in café-au-lait macules (CALMs) in patients with neurofibromatosis type 1 (NF1; von Recklinghausen's disease) has not been elucidated...
  18. ncbi Association of urticaria pigmentosa with café-au-lait spots, neurofibromas and neurofibroma-like neoplasms: a mere coincidence?
    Matthias Möhrenschlager
    Department of Dermatology and Allergy Biederstein, Technical University of Munich, Germany
    Dermatology 206:297-302. 2003
    ..Urticaria pigmentosa (UP) is characterized by dense aggregates of mast cells in the dermis. There is consistent evidence from the literature that mast cells may play a pathogenetic role in the development of neurofibromas and other tumors...
  19. pmc Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients
    E Ars
    Centre de Genètica Mèdica i Molecular IRO, Hospital Duran i Reynals, Barcelona, Spain
    J Med Genet 40:e82. 2003
  20. ncbi [Neurofibromatosis in children. Our experience]
    J Lopez-Pison
    Sección de Neuropediatría, Hospital Infantil Universitario Miguel Servet, Zaragoza, Espana
    Rev Neurol 37:820-5. 2003
    ..It is diagnosed by the existence of certain clinical criteria which cannot appear until adulthood...
  21. ncbi Giant café-au-lait macule in neurofibromatosis 1: a type 2 segmental manifestation of neurofibromatosis 1?
    Chao Chun Yang
    Department of Dermatology, College of Medicine, National Cheng Kung University, Tainan, Taiwan
    J Am Acad Dermatol 58:493-7. 2008
    ..This large café-au-lait macule may be best explained as an example of type 2 segmental NF1. A novel mutation (3009delG) in exon 23 was also identified in this patient, which has not yet been described in sporadic and familial NF1...
  22. pmc McCune-Albright syndrome
    Claudia E Dumitrescu
    Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA
    Orphanet J Rare Dis 3:12. 2008
    ..Treatment of all endocrinopathies is required. Malignancies associated with MAS are distinctly rare occurrences. Malignant transformation of FD lesions occurs in probably less than 1% of the cases of MAS...
  23. ncbi [Imaging features of neurofibromatosis type 1]
    C Jacques
    Service de Radiologie 2, Hôpitaux Universitaires Hôpital de Hautepierre Avenue Molière, 67098 Strasbourg
    J Neuroradiol 32:180-97. 2005
    ..Vascular lesions may occur resulting in arterial hypertension and aneurysm formation...
  24. ncbi Prevalence of neurofibromatosis 1 in German children at elementary school enrollment
    Marga Lammert
    Department of Maxillofacial Surgery, University Hospital Eppendorf, Hamburg, Germany
    Arch Dermatol 141:71-4. 2005
    ..To determine the prevalence of neurofibromatosis 1 (NF1) among 6-year-old children in Germany...
  25. ncbi Pigmentary anomalies in the multiple lentigines syndrome: Is it distinct from LEOPARD syndrome?
    S L Arnsmeier
    Department of Pediatrics, Children s Memorial Medical Center, Northwestern University Medical School, Chicago, Illinois, USA
    Pediatr Dermatol 13:100-4. 1996
    ..hypopigmented patches, and hyperpigmented patches, many of which appeared clinically to be cafe au lait spots. Multiple lentigines syndrome should be considered in the differential diagnosis of multiple cafe au lait ..
  26. ncbi Pigment cell-related manifestations in neurofibromatosis type 1: an overview
    Sofie De Schepper
    Department of Dermatology, Ghent University, De Pintelaan 185, B 9000 Ghent, Belgium
    Pigment Cell Res 18:13-24. 2005
    ..Finally, we want to address the relationship between malignant melanoma and NF1...
  27. ncbi Autoimmune haemolysis as an unusual cause of anaemia in von Recklinghausen's disease
    F Tekin
    Department of Gastroenterology, Ege Universitesi Tip Fakultesi, Gastroenteroloji Bilim Dali, Bornova 35100, Izmir, Turkey
    Neth J Med 62:337-9. 2004
    ..Here, we report a 48-year-old woman with NF-1 presenting as autoimmune haemolytic anaemia. We also reviewed the literature about the association of NF-1 and autoimmune diseases...
  28. ncbi A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patient
    K C Park
    Department of Dermatology, Seoul National University College of Medicine, Chongno Gu, Korea
    J Hum Genet 45:84-5. 2000
    ..Because this mutation has been described in multiple Caucasian and Japanese families, the codon CGA for Arg-1947 in the NF1 gene is considered to be a hotspot for mutation in neurofibromatosis type 1 in all ethnic groups...
  29. ncbi Eye disorders in neurofibromatosis (NF1)
    Rajko Kordić
    University Department of Ophthalmology, Clinical Hospital Center, Rebro, Zagreb, Croatia
    Coll Antropol 29:29-31. 2005
    ..Its ease of clinical recognition and if present with other diagnostic signs (for instance café au lait patches) could be deemed as reliable diagnostic criterion of NF1 in childhood...
  30. ncbi [Precocious puberty caused by McCune-Albright syndrome in a girl aged 6 years and 9 months]
    Beata Wikiera
    Klinika Endokrynologii i Diabetologii Wieku Rozwojowego AM we Wrocławiu, Wrocław
    Endokrynol Diabetol Chor Przemiany Materii Wieku Rozw 12:63-7. 2006
    ..Single "cafe-au-lait" spot was found on the patient skin. Scintigraphy, radiography and computed tomography scans showed fibrous dysplastic bones in the right tibia and in maxillary and sphenoid sinuses...
  31. ncbi Malignant triton tumor of the pelvis in a 2-year-old boy
    Fatma Visal Okur
    Department of Pediatric Oncology, Gazi University, Ankara, Turkey
    J Pediatr Hematol Oncol 28:173-6. 2006
    ..To our knowledge our case is one of the youngest patients reported with a malignant triton tumor and the second pediatric case with a pelvic malignant triton tumor...
  32. ncbi [Brown tumors of upper and lower jaws in Recklinghausen neurofibromatosis. A case report]
    Eugenia Popescu
    Clinica de chirurgie OMF a Spitalului Sf Spiridon, Facultatea de Medicina Dentara, Universitatea de Medicină şi Farmacie Gr T Popa, Iasi
    Rev Med Chir Soc Med Nat Iasi 111:238-43. 2007
    We report the case of a 41-year-old patient who presented multiple cafe au lait spots and exophytic tumors of the upper jaw, causing facial asymmetry and masticatory impairment...
  33. ncbi LEOPARD syndrome: clinical diagnosis in the first year of life
    M Cristina Digilio
    Medical Genetics and Pediatric Cardiology, Bambino Gesu Hospital, Rome, Italy
    Am J Med Genet A 140:740-6. 2006
    ..The clinical suspicion of LS may be confirmed by molecular screening for PTPN11 mutations. An early diagnosis of the disease is useful for the prospective care of associated medical problems and for precise genetic counseling...
  34. ncbi Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2
    Elizabeth A Grant
    School of Medicine, Oregon Health and Science University, Portland, Oregon 97239, USA
    Ophthalmic Genet 29:133-8. 2008
    ..To report two cases of neurofibromatosis type 2 (NF2) initially presenting with isolated bilateral combined hamartomas of the retina and retinal pigment epithelium (RPE)...
  35. ncbi Neurological complications involving the central nervous system in neurofibromatosis type 1
    Hsiang Yao Hsieh
    Section of Epilepsy, Department of Neurology, Chang Gung University and Memorial Hospital, Taipei, Taiwan
    Acta Neurol Taiwan 16:68-73. 2007
    ..To investigate the neurological complications and characteristics of intracranial lesions in patients with neurofibromatosis type 1 (NF1) in Taiwan...
  36. ncbi Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies
    Jan Werner Poley
    Department of Gastroenterology and Hepatology, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Cancer 109:2349-56. 2007
    ..Therefore, the authors studied the role of homozygosity or compound heterozygosity (CZ) for MMR gene defects in children with multiple primary tumors...
  37. pmc An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation
    M Upadhyaya
    Institute of Medical Genetics, Cardiff University, Cardiff, CF14 4XN, UK
    Am J Hum Genet 80:140-51. 2007
    ..The biological mechanism that relates this specific mutation to the suppression of cutaneous neurofibroma development is unknown...
  38. ncbi Neurofibromatosis type 1 associated with dysplastic nevus syndrome
    Zrinjka Pastar
    University Department of Dermatology and Venereology, Zagreb University Hospital Center and School of Medicine, Zagreb, Croatia
    Acta Dermatovenerol Croat 17:118-22. 2009
    ..The importance of close follow up of nevi in such patients with NF-1 and DNS for the development of melanoma as well as other NF-1 associated skin disorders and with multidisciplinary approach to other associated diseases is highlighted...
  39. ncbi Gingival neurofibroma in a neurofibromatosis type 1 patient
    José Antonio García de Marcos
    Oral and Maxillofacial Surgery Department, Complejo Hospitalario Universitario de Albacete, Albacete, Spain
    Med Oral Patol Oral Cir Bucal 12:E287-91. 2007
    ..About 50% of NF-I patients have no family history of the disease. NF-I patients have skin lesions (cafe au lait spots and neurofibromas) as well as bone malformations and central nervous system tumours...
  40. ncbi The different forms of neurofibromatosis
    M Ruggieri
    Divisione di Neurologia Pediatrica, Dipartimento di Pediatria, Universita di Catania, Italy
    Childs Nerv Syst 15:295-308. 1999
    ..In this article I will review the different forms of neurofibromatosis, focusing on those aspects that most commonly challenge the neurosurgeon...
  41. ncbi [Neuroimaging, CT and MR brain findings in a case of McCune-Albright syndrome]
    J Carod
    Servicio de Neurologia, Hospital Miguel Servet, Zaragoza
    Rev Neurol 24:979-81. 1996
    ..Findings on CT scan and magnetic resonance imaging of the skull in an affected girl with McCune-Albright syndrome are shown, and also the histopathological study of the right temporal bone biopsy...
  42. ncbi McCune-Albright syndrome in adulthood
    Philippe Chanson
    Department of Endocrinology and Reproductive Diseases, Hôpital de Bicêtre and Universite Paris Sud 11, 78 rue du General Leclerc, F 94275 Le Kremlin Bicetre, France
    Pediatr Endocrinol Rev 4:453-62. 2007
    ..Recent data suggest that cancer incidence in adulthood (bone, breast, thyroid...) is increased in these patients...
  43. ncbi Von Recklinghausen's disease associated with malignant peripheral nerve sheath thmor presenting with constipation and urinary retention: a case report and review of the literature
    Parthena Karatzoglou
    Department of Medicine, Second Medical Clinic, Aristotle University of Thessaloniki, Ippokration Hospital, Thessaloniki, Greece
    Anticancer Res 28:3107-13. 2008
    ..The histopathological diagnosis was MPNST. The mass was considered inoperable and palliative colostomy was performed. The patient declined chemotherapy and radiation therapy and died 2 months later...
  44. ncbi Segmental neurofibromatosis [NF type - v]
    - Arfan-Ul-Bari
    Department of Dermatology, PAF Hospital, Sargodha
    J Coll Physicians Surg Pak 13:717-8. 2003
    ..man with this condition is presented, who was having multiple soft skin tumours over a localized area of back with no associated cafe au lait spots, axillary freckles or lish nodules. Histology confirmed the diagnosis of neurofibroma.
  45. ncbi Café-au-lait macules: are these markers of neoplasia of genetic origin?
    Gurvinder P Thami
    Dermatology 208:234-5. 2004
  46. ncbi Familial hyper- and hypopigmentation with age-related pattern change
    Joe J Hoo
    Am J Med Genet A 132:215-8. 2005
  47. ncbi Neurofibromatosis type 1: pathology, clinical features and molecular genetics
    A von Deimling
    Department of Neuropathology, University of Bonn Medical Center, Germany
    Brain Pathol 5:153-62. 1995
    ..Evidence suggesting other roles played by neurofibromin, in control of proliferation in some situations and differentiation in others, is gradually bringing the previously hazy picture of this genetic disorder into sharper focus...
  48. ncbi McCune-Albright syndrome: clinical picture and natural history in children and adolescents
    Thomas M K Völkl
    Division of Pediatric Endocrinology, Hospitalfor Children and Adolescents, Friedrich Alexander University of Erlangen, Nuremberg, Germany
    J Pediatr Endocrinol Metab 19:551-9. 2006
    ..e. any cell, tissue and organ in any site of the body could be affected to varying degrees, ranging from one or two mild clinical signs with excellent long-term prognosis to a severe life-threatening multiorgan disease...
  49. ncbi Infantile onset neurofibromatosis type 2 presenting with peripheral facial palsy, skin patches, retinal hamartoma and foot drop
    D Tibussek
    Department of General Paediatrics, University Children s Hospital, Dusseldorf, Germany
    Klin Padiatr 221:247-50. 2009
    ..However, it is now known that many NF2 patients present clinical signs and symptoms in early childhood. We here report an illustrative case of a male adolescent with an infantile onset clinical symptomatology...
  50. ncbi [Neurofibromatosis type 1 in children. Experiences of the Gdansk Paediatric Oncohaematology Centre. Preliminary results]
    Danuta Sierota
    Klinika Pediatrii, Hematologii, Onkologii i Endokrynologii, Akademia Medyczna, ul Debinki 7, 80 211 Gdansk, Poland
    Med Wieku Rozwoj 11:307-12. 2007
    ..The aim of the study was assessment of the most frequent symptoms on the basis of long term observation of children with NF1 and presentation of implemented diagnostic and therapeutic procedures...
  51. ncbi Pulmonary hypertension in neurofibromatosis
    Peter J Engel
    The Ohio Heart and Vascular Center, Cincinnati, Ohio, USA
    Am J Cardiol 99:1177-8. 2007
    ..The published research is reviewed. In conclusion, it is suggested that the association between these conditions be recognized in the classification of pulmonary hypertension...
  52. ncbi Non-ossifying fibroma, fibrous cortical defect and Jaffe-Campanacci syndrome: a biologic and clinical review
    Henry J Mankin
    Orthopaedic Research Laboratories, Massachusetts General Hospital, Boston, MA 02114, USA
    Chir Organi Mov 93:1-7. 2009
    ..In addition, these patients have some systemic and dermal findings resembling those seen in patients with Type 1 neurofibromatosis...
  53. ncbi Clinical, radiological and endocrinological findings in a case of McCune-Albright syndrome
    Yam Bahadur Roka
    B P Koirala Institute of Health Sciences, Department of Surgery, Dharan, Nepal
    Turk Neurosurg 20:508-11. 2010
    ..Histology confirmed it was fibrous dysplasia. Although uncommon, this syndrome must be kept in mind in cases with bony abnormalities and extensive endocrinological workup done and treatment given for best results...
  54. pmc Neurofibromatosis Type 1 Associated with Hashimoto's Thyroiditis: Coincidence or Possible Link
    Junaid Nabi
    Department of Surgery, Shaheed Suhrawardy Medical College and Hospital, Dhaka 1207, Bangladesh
    Case Rep Neurol Med 2013:910656. 2013
    ..More extensive reports and further investigations of such patients having combination of neurofibromatosis type 1 and autoimmune thyroiditis will certainly provide better understanding of this link in the near future...
  55. ncbi Epidermal hyperpigmentation in non-syndromic solitary cafe-au-lait macules may be associated with increased secretion of endothelin-1 by lesional keratinocytes
    Mutsumi Okazaki
    Department of Plastic and Reconstructive Surgery, Graduate School of Medicine, University of Tokyo, Japan
    Scand J Plast Reconstr Surg Hand Surg 39:213-7. 2005
    ..It may be that the increased secretion of ET-1 by epidermal keratinocytes has a role in the accentuated epidermal melanisation seen in non-syndromic macules...
  56. ncbi The use of lasers and intense pulsed light sources for the treatment of pigmentary lesions
    H H L Chan
    Division of Dermatology, Department of Medicine, The University of Hong Kong, China
    Skin Therapy Lett 9:5-7. 2004
    ..In the removal of melanocytic nevi, a combined approach with a long-pulse pigmented laser and a Q-switched laser is particularly applicable...
  57. ncbi Congenital smooth muscle hamartoma: the importance of differentiation from melanocytic nevi
    Christopher S Schmidt
    Division of Plastic and Reconstructive Surgery, University of Wisconsin Medical School, Madison, Wisconsin 53792, USA
    J Craniofac Surg 16:926-9. 2005
    ..Differentiating CSMH from a congenital melanocytic nevus avoids the unnecessary excision of this benign condition...
  58. ncbi Von recklinghausen neurofibromatosis-pachydermatocele causing lower limb gigantism: a case report
    Arcot Rekha
    Institution Sri Ramachandra Medical College and Research Institute, Deemed University, Porur, Chennai, India
    Int J Low Extrem Wounds 5:61-3. 2006
    ..This condition is seen with café au lait patches and multiple neurofibromatosis in this case of von Recklinghausen neurofibromatosis. We report our patient and review literature of this uncommon condition...
  59. doi Bilateral nevus of Ito and nevus spilus in the same patient
    Felicidade Trindade
    J Am Acad Dermatol 59:S51-2. 2008
  60. pmc A case of McCune-Albright syndrome with associated multiple endocrinopathies
    Sang Hun Sung
    Department of Internal Medicine, Catholic University of Daegu School of Medicine, Daegu, Korea
    Korean J Intern Med 22:45-50. 2007
    ..Thyroid ultrasonography revealed multiple nodules. The brain MRI demonstrated a mass in the left pituitary gland. Genetic analysis identified a change from Arg (CGT) at codon 201 to Cys (TGT)...
  61. ncbi Genetic diagnosis of multiple affected tissues in a patient with McCune-Albright syndrome
    Ji Zhou
    Department of Endocrinology and Metabolic Diseases, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, 197 Ruijin Er Road, Shanghai, 200025, China
    Endocrine 31:212-7. 2007
    ..An activating mutation of the Gsalpha gene (Arg201Cys) was found in the genomic DNA isolated from the peripheral blood and the bone tissue, but not in genomic DNA isolated from the skin and pleura samples...
  62. ncbi Bone abnormalities occurring in the follow-up of the patients with neurofibromatosis type 1
    E F Georgescu
    Department of Internal Medicine, Emergency County Hospital of Craiova, University of Medicine and Pharmacy of Craiova, Romania
    Rom J Morphol Embryol 48:249-56. 2007
    ..We want to have a separate mention for the maxillary and mandible involvement, which according to our information is not a rare form...
  63. ncbi [A novel neurocutaneous syndrome: Legius syndrome. A case report]
    Mercedes Cemeli-Cano
    Hospital Miguel Servet, Zaragoza, Espana
    Rev Neurol 59:209-12. 2014
    ..However, this syndrome is not associated with neurofibromas, optic gliomas, Lisch nodules or tumor predisposition...
  64. ncbi Treatment of pigmented lesions of neurofibromatosis 1 with intense pulsed-radio frequency in combination with topical application of vitamin D3 ointment
    Yuichi Yoshida
    Department of Dermatology, School of Medicine, Fukuoka University, Fukuoka, Japan
    J Dermatol 34:227-30. 2007
    ..Although further studies with large groups of patients should be performed for a better conclusion, it could improve quality of life with NF1 patients who are concerned with serious cosmetic and social problems...
  65. ncbi Treatment of 153 Japanese patients with Q-switched alexandrite laser
    Shinji Kagami
    Department of Dermatology, Faculty of Medicine, University of Tokyo, 7 3 1 Hongo, Bunkyo ku, Tokyo 113 8655, Japan
    Lasers Med Sci 22:159-63. 2007
    ..As a whole, good therapeutic outcome was achieved after multiple treatment sessions. However, the use of other lasers or other treatment modalities should be considered to treat nevus spilus/café-au-lait spots...
  66. ncbi McCune-Albright syndrome
    Mehdi Hamadani
    Department of Internal Medicine, Oklahoma University Health Sciences Center, Oklahoma City, OK, USA
    Med J Aust 185:597. 2006
  67. ncbi Physical signs for the general dental practitioner. Case 39. Café au lait spots due to neurofibromatosis
    Steve Bain
    University of Wales, Swansea
    Dent Update 33:572. 2006
  68. ncbi [Hypertension and white coffee stains. Diagnosis: aorta media syndrome associated with type 1 neurofibromatosis]
    A Abril Molina
    Unidad de Cuidados Intensivos Pediátricos y Neonatales, Hospital Clinico Universitario San Cecilio, Granada, Spain
    An Pediatr (Barc) 67:617-8. 2007
  69. ncbi Bilateral segmental neurofibromatosis with gastric carcinoma
    A Kajimoto
    Department of Dermatology, Saiseikai Tondabayashi Hospital, Osaka, Japan
    Clin Exp Dermatol 32:43-4. 2007
    ..To our knowledge, this is only the third reported case of SN associated with internal malignant tumours...
  70. ncbi Juvenile papillomatosis of the breast associated with neurofibromatosis 1
    Tiong Yang Tan
    Pediatr Blood Cancer 49:363-4. 2007
  71. ncbi Pulmonary artery aneurysm and coronary artery disease in the clinical presentation of watson syndrome
    James L Foster
    Division of Cardiothoracic Surgery, Medical University of South Carolina, Charleston, South Carolina 29425, USA
    Ann Thorac Surg 82:740-2. 2006
    ..We present the case of an undiagnosed adult with coronary artery disease, the Watson syndrome characteristics, and a pulmonary artery aneurysm secondary to pulmonic stenosis...
  72. doi Segmental lentiginosis and café au lait spots within naevoid hypopigmentation
    K Kabashima
    J Eur Acad Dermatol Venereol 22:397-8. 2008
  73. ncbi [Neurofibromatosis type 2 in a child - diagnostic difficulties]
    Monika Marona
    Klinika Neurologii, Collegium Medicum Uniwersytetu Jagiellońskiego, Krakow
    Neurol Neurochir Pol 42:178-84. 2008
  74. ncbi Johanson--blizzard syndrome
    M L Kulkarni
    Department of Pediatrics, Jagadguru Jayadeva Murugarajendra Medical College, Davangere, India
    Indian J Pediatr 71:1127-9. 2004
    ..This condition is supposed to be an autosomal recessive disorder. We are reporting a female neonate with the characteristic features and an uncommon less emphasized feature viz. cafe-au-lait spots...
  75. ncbi Segmental neurofibromatosis in childhood
    Robert Listernick
    Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60614, USA
    Am J Med Genet A 121:132-5. 2003
    ..Accurate diagnosis of segmental NF-1 is crucial for both management and genetic counseling...
  76. ncbi Speckled lentiginous nevus syndrome: delineation of a new distinct neurocutaneous phenotype
    Rudolf Happle
    Department of Dermatology, Philipp University of Marburg, Deutschhausstrasse 9, D 35033 Marburg, Germany
    Eur J Dermatol 12:133-5. 2002
    ..The postulated new phenotype is tentatively categorized as a paradominant trait. Future clinical studies will probably confirm the existence of speckled lentiginous nevus syndrome as a distinct neurocutaneous phenotype...
  77. ncbi [A case of malignant pheochromocytoma associated with von Recklinghausen's disease]
    K Takehara
    Department of Urology, Nagasaki University School of Medicine
    Hinyokika Kiyo 47:257-60. 2001
    ..We reviewed the literature on pheochromocytoma associated with von Recklinghausen's disease. To our knowledge, only 7 cases of malignant pheochromocytoma associated with von Recklinghausen's disease have been reported in Japan...
  78. ncbi Diffuse plexiform neurofibroma in a 13-year-old girl
    Amor Khachemoune
    Georgetown University Medical Center, USA
    Dermatol Online J 9:23. 2003
  79. ncbi Musculoskeletal manifestations of Russell-Silver syndrome
    Edward Abraham
    Department of Orthopaedics, The University of Illinois College of Medicine at Chicago, Chicago, Illinois 60612, USA
    J Pediatr Orthop 24:552-64. 2004
    ..All 18 patients studied had retardation of bone age, which peaked at age 7 years...
  80. ncbi Congenital triangular alopecia in association with congenital heart diseases, bone and teeth abnormalities, multiple lentigines and café-au-lait patches
    Sung Wook Park
    Department of Dermatology, Busan Paik Foundation Hospital, and Inje University Medical College, Busan, Korea
    Int J Dermatol 43:366-7. 2004
  81. ncbi [Neurofibromatosis and cystic fibrosis: a case report]
    T Rubio-González
    Especialista 1er Grado Genética Clínica, Hospital Docente Infantil Sur, Santiago de Cuba, Cuba
    Rev Neurol 29:604-6. 1999
    ..Laboratory studies showed that both mother and son had positive sweat tests. PCR molecular study showed the patient to be homozygotic delta F508/delta F508 for the cystic fibrosis gene and both his parents to be delta F508 carriers...
  82. ncbi Microcephalic osteodysplastic primordial short stature type II with café-au-lait spots and moyamoya disease: another patient
    Ian D Young
    Am J Med Genet A 127:218-20. 2004
  83. ncbi The biology and management of laryngeal neurofibroma
    Reza Rahbar
    Department of Otolaryngology and Communication Disorders, Children s Hospital, Harvard Medical School, Boston, Mass, USA
    Arch Otolaryngol Head Neck Surg 130:1400-6. 2004
    ..To review the presentation of laryngeal neurofibroma, including its association with neurofibromatosis types 1 and 2, and present guidelines for its management...
  84. ncbi Lentiginous macules and patches of neurofibromatosis (an approach to better terminology)
    M Amer
    Department of Dermatology and Pathology, University of Zagazig, Faculty of Medicine, Egypt
    J Eur Acad Dermatol Venereol 15:39-42. 2001
    ..To what extent (clinically and pathologically) are the two pigmentary defects similar? And to what extent are café-au-lait patches and freckle-like lesions similar pathologically?..
  85. ncbi Association of juvenile xanthogranuloma with café-au-lait macules
    G P Thami
    Department of Dermatology and Venereology, Government Medical College and Hospital, Sector 32, Chandigarh-160047, India
    Int J Dermatol 40:283-5. 2001
    ..This confirmed the diagnosis of juvenile xanthogranuloma. The parents were informed about the benign and self-limiting nature of the disorder and were advised to bring the child for regular follow-up...
  86. ncbi Café-au-lait spots and early onset colorectal neoplasia: a variant of HNPCC?
    J D Trimbath
    Department of Medicine, The John Hopkins Hereditary Colorectal Cancer Registry, 550 N Broadway, Suite 108, Baltimore, MD 21205 2011, USA
    Fam Cancer 1:101-5. 2001
    ..However, review of hereditary colorectal cancer case reports reveals occasional description of CALS on physical exam...
  87. ncbi Diagnosis and management of neurofibromatosis type 1
    B R Korf
    Partners Center for Human Genetics, Harvard Medical School, 77 Avenue Louis Pasteur, Suite 642, Boston, MA 02115, USA
    Curr Neurol Neurosci Rep 1:162-7. 2001
    ..The role of ras in the pathogenesis of tumors in NF1 has suggested an approach to treatment using ras inhibitors, some of which are likely to begin in clinical trials in NF1 patients in the near future...
  88. ncbi Juvenile papillomatosis of the breast in a male infant with Noonan syndrome, café au lait spots, and family history of breast carcinoma
    Maurizio Pacilli
    Surgery Unit, Institute of Child Health and Great Ormond Street Hospital, University College London, London, United Kingdom
    Pediatr Blood Cancer 45:991-3. 2005
    ..Seven previously reported cases of JP in males exist, two occurring in infants. The association between JP and NS has not been previously reported...
  89. ncbi Familial segmental neurofibromatosis
    Sibel Oguzkan
    Department of Medical Biology, University of Hacettepe, Ankara, Turkey
    J Child Neurol 19:392-4. 2004
    ..The genetic mechanisms underlying this association are discussed. This family can be further investigated by examination of tissue samples from affected and unaffected sites for mutations...
  90. ncbi Prenatal diagnosis of Fanconi anemia (Group C) subsequent to abnormal sonographic findings
    Amy Merrill
    Genzyme Genetics, Molecular Diagnostics Laboratory, Westborough, Massachusetts 01581, USA
    Prenat Diagn 25:20-2. 2005
    ..We describe two cases in which second-trimester sonographic findings led to parental carrier testing for FA-C and subsequent prenatal diagnosis of affected fetuses...
  91. pmc Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene
    D Kaufmann
    Departments of Human Genetics, University of Ulm, Ulm, Germany
    Am J Hum Genet 69:1395-400. 2001
    ..We speculate that this phenotype is caused by an unknown modifying gene that compensates for some, but not all, of the effects caused by neurofibromin deficiency...
  92. ncbi [Skin manifestations of Fanconi anemia]
    P Ogilvie
    Klinik und Poliklinik für Haut und Geschlechtskrankheiten der Universität Wurzburg
    Hautarzt 53:253-7. 2002
    ..We emphasize the important role of skin abnormalities of Fanconi's anemia as signs enabling early diagnosis. Moreover, we summarize clinical features, course, therapy, and new aspects of the molecular basis of Fanconi's anemia...
  93. ncbi Neurofibromatosis, stroke and basilar impression. Case report
    E J Piovesan
    Internal Medicine Department, Hospital de Clinicas of Federal University of Parana, Brasil
    Arq Neuropsiquiatr 57:484-8. 1999
    ..Basilar impression associated with this case may be considered a pure coincidence, but rare cases of basilar impression and NF1 have been described...
  94. ncbi [Bile duct obstruction caused by neurofibroma in a patient with Recklinghausen's disease]
    Judit Bajor
    Baranya Megyei Kórház, I sz Belgyógyászati és Gasztroenterológiai Osztály, Pecs
    Orv Hetil 143:1947-50. 2002
    ..Gastrointestinal involvement occurs in 25 percent of all cases...
  95. ncbi A complex association between derivatives from the neural crest. A case report
    M Filotico
    Fondazione di Culto e Religione Cardinale G Panico, A O Tricase, LE
    Pathologica 105:86-9. 2013
    ..of the axilla, composed of elements derived from the neural crest: several of hamartomatous significance: ("cafe au lait spots without neurofibroma, groups of nevoids cells), others clearly neoplastic with the characters of the ..
  96. pmc Intraosseous neurofibroma and concurrent involvement of the mandible, maxilla and orbit: report of a case
    Zahra Dalili
    Department of Maxillofacial Radiology, Dental School, Guilan University of Medical Sciences, Rasht, Iran
    Iran J Radiol 9:45-9. 2012
    ....
  97. ncbi [Retroperitoneal malignant peripheral nerve sheath tumor (MPNST) complicated with von Recklinghausen's disease: a case report]
    Mototaka Satoh
    Department of Urology, Osaka Police Hospital
    Hinyokika Kiyo 50:417-20. 2004
    ..Since the responsiveness of these tumors to chemotherapy and radiation therapy is poor, we did not administer adjuvant therapy. The patient is alive with no evidence of recurrence more than 6 months after surgey...
  98. ncbi Congenital (infantile) pseudarthrosis of the fibula associated with osteofibrous dysplasia
    Masanori Hisaoka
    Department of Pathology and Oncology, School of Medicine, University of Occupational and Environmental Health, Kitakyushu, Fukuoka, Japan
    Skeletal Radiol 33:545-9. 2004
    ..This case provides further evidence that osteofibrous dysplasia may be associated with congenital (infantile) pseudarthrosis of the lower leg...
  99. ncbi Neurofibromatosis type 1 with overlap Turner syndrome and Klinefelter syndrome
    Nihal Hatipoglu
    Department of Pediatric Endocrinology, Sisli Etfal Research and Education Hospital
    J Trop Pediatr 56:69-72. 2010
    ..Due to these cases, we suggest that each patient with Turner-like symptoms or Klinefelter's-like syndrome, be carefully examined for café au lait macules before the initiation of hormone replacement treatment...
  100. ncbi Giant plexiform neurofibroma and suboccipital meningocele manifesting as segmental neurofibromatosis
    Masanori Kurimoto
    Department of Neurosurgery, University of Toyama, Toyama, Japan
    Neurol Med Chir (Tokyo) 48:271-4. 2008
    ..The postoperative course was uneventful and observation was continued for both the giant plexiform neurofibroma and the meningocele...
  101. ncbi Café-au-lait macules: occasional fatal sequels of benign pigmented lesions
    Angel Fernandez-Flores
    S Patologia Celular, Clinica Ponferrada, Avenida de Galicia 124400, Ponferrada, Spain
    Acta Dermatovenerol Croat 16:79-82. 2008
    ..The immediate cause of death was intrathoracic neurofibroma causing compression that led to fracture of the thoracic vertebrae and laceration of the aorta with massive hemothorax...

Research Grants6

  1. METABOLISM IN NORMAL AND OSTEOARTHRITIC CARTILAGE
    Henry Mankin; Fiscal Year: 2001
    ..It is further speculated that the study of serine proteinases produced by OA cartilage may have strong implications for the management of this debilitating disease. ..
  2. REGULATION OF NF1 GENE EXPRESSION DURING DIFFERENTIATION
    David Gutmann; Fiscal Year: 1999
    ..An examination of the differential expression and functional properties of these isoforms will provide additional insights into the role of this important tumor suppressor gene in both health and disease. ..
  3. GENETIC AND MOLECULAR STUDIES OF NEUROFIBROMATOSIS 1
    James Gusella; Fiscal Year: 2000
    ....
  4. LINKAGE STUDIES IN NEUROFIBROMATOSIS
    Francis Collins; Fiscal Year: 1992
    ..Finally, we will attempt to define the function of the normal gene by DNA transfer experiments into cultured cell lines and transgenic mice...
  5. Phenotyping & genotype-phenotype correlations in NF1
    Bruce Korf; Fiscal Year: 2006
    ..abstract_text> ..
  6. Comprehensive NF1 Mutational Analysis in Leukemia Cells
    Ludwine Messiaen; Fiscal Year: 2006
    ..abstract_text> ..