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 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
  7. 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
  8. 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
  9. ncbi Familial segmental neurofibromatosis
    Sibel Oguzkan
    Department of Medical Biology, University of Hacettepe, Ankara, Turkey
    J Child Neurol 19:392-4. 2004
  10. ncbi Bilateral segmental neurofibromatosis with gastric carcinoma
    A Kajimoto
    Department of Dermatology, Saiseikai Tondabayashi Hospital, Osaka, Japan
    Clin Exp Dermatol 32:43-4. 2007

Research Grants

Detail Information

Publications125 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 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)...
  7. 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...
  8. 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...
  9. 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...
  10. 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...
  11. ncbi Diffuse plexiform neurofibroma in a 13-year-old girl
    Amor Khachemoune
    Georgetown University Medical Center, USA
    Dermatol Online J 9:23. 2003
  12. 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...
  13. 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...
  14. 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...
  15. 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...
  16. 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...
  17. 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...
  18. 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...
  19. 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...
  20. 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...
  21. 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...
  22. ncbi Juvenile papillomatosis of the breast associated with neurofibromatosis 1
    Tiong Yang Tan
    Pediatr Blood Cancer 49:363-4. 2007
  23. 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...
  24. 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...
  25. 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...
  26. 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...
  27. 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...
  28. 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...
  29. 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...
  30. 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
  31. 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...
  32. 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...
  33. doi 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...
  34. 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...
  35. 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...
  36. 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...
  37. 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 ..
  38. 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...
  39. 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...
  40. 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...
  41. 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
  42. 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
  43. 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...
  44. 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...
  45. 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...
  46. 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...
  47. doi 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)...
  48. 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...
  49. 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...
  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 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...
  52. 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...
  53. 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...
  54. 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...
  55. 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...
  56. 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...
  57. 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...
  58. 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...
  59. 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...
  60. 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.
  61. 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...
  62. 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 ..
  63. 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
    ....
  64. 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...
  65. 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...
  66. 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...
  67. doi The use of lasers in the treatment of cutaneous lesions
    D M Seoighe
    Mater Misericordiae University Hospital, Eccles St, Dublin 7
    Ir J Med Sci 179:321-6. 2010
    ..Light amplification by stimulated emission of radiation (lasers) are currently employed by a number of medical and surgical specialties and used to treat a wide range of conditions...
  68. doi Autoimmune diseases associated with neurofibromatosis type 1
    Arti Nanda
    Pediatric Dermatology Unit, As ad Al Hamad Dermatology Center, Al Sabah Hospital, Kuwait
    Pediatr Dermatol 25:392-3. 2008
    ..Whether these associations reflect a causal relationship with neurofibromatosis type 1 or are coincidental needs to be settled...
  69. 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...
  70. 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...
  71. ncbi Prevalence of skin disease among school children and adolescents in a Student Health Service Center in Hong Kong
    W K Fung
    Social Hygiene Service, Department of Health, Hong Kong
    Pediatr Dermatol 17:440-6. 2000
    ..Therefore it is useful to monitor the epidemiology of skin problems in children so that relevant skin health education programs and preventive measures can be planned and implemented effectively...
  72. ncbi Clinical, endocrinological and radiography features in a child with McCune-Albright syndrome and pituitary adenoma
    W Zumkeller
    Department of Pediatrics, Martin Luther University Halle Wittenberg, Halle, Germany
    J Pediatr Endocrinol Metab 14:553-9. 2001
    ..So far, this condition has been treated with pamidronate only in adults, but severely affected children also benefit from this treatment regimen...
  73. doi Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2
    Carl Christian Jackson
    Division of General Surgery, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Pediatr Blood Cancer 50:1268-70. 2008
    ..A new cancer syndrome caused by biallelic mutations in the mismatch repair genes, including PMS2, is now emerging and is characterized by café-au-lait macules, colonic polyps and a distinctive tumor spectrum...
  74. ncbi Trigonomicrocephaly, severe micrognathia, large ears, atrioventricular septal defect, symmetrical cutaneous syndactyly of hands and feet, and multiple café-au-lait spots: new acrocraniofacial dysostosis syndrome?
    N Al-Sannaa
    Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Med Genet 101:279-82. 2001
    ..The mother of the propositus has multiple café-au-lait spots. Search of POSSUM and the London Dysmorphology Database (LDDB) uncovered no similar case. We think that this patient represents a new acrocraniofacial dysostosis syndrome...
  75. ncbi Treatment of a café-au-lait macule with the erbium:YAG laser
    M B Alora
    Department of Dermatology, Beth Israel Deaconess Medical Center, Harvard Medical School, USA
    J Am Acad Dermatol 45:566-8. 2001
    ..The erbium:YAG laser is a relatively new instrument for skin rejuvenation. We present a case of a "Q-switched laser-resistant" café-au-lait macule that was successfully treated with the erbium:YAG laser...
  76. ncbi Childhood T-cell non-Hodgkin's lymphoma, colorectal carcinoma and brain tumor in association with café-au-lait spots caused by a novel homozygous PMS2 mutation
    C P Kratz
    Leukemia 22:1078-80. 2008
  77. ncbi Infantile McCune-Albright syndrome
    J H Davies
    Department of Child Health, Royal Gwent Hospital, Newport, United Kingdom
    Pediatr Dermatol 18:504-6. 2001
    ..Following the clinical diagnosis of McCune-Albright syndrome, he was subsequently shown to have hypercortisolism and hyperthyroidism...
  78. ncbi Coexistence of autosomal dominant polycystic kidney disease and neurofibromatosis: report of a family
    Meng Hao Chen
    Division of Nephrology, Chang Gung Memorial Hospital, Keelung, Taiwan
    Am J Nephrol 22:376-80. 2002
    ..It is possible that a mutated neurofibromatosis gene developed in the ADPKD mother with subsequent inherence of both ADPKD and NF genes in her 2 sons...
  79. ncbi Plexiform neurofibroma of the penis associated with erectile dysfunction due to arterial steeling
    Giulio Garaffa
    St Peter s Department of Andrology, University College London Hospitals, London, UK
    J Sex Med 5:234-6. 2008
    ..Solitary involvement of the genitourinary tract by Von Recklinghousen disease (VRD) is extremely rare...
  80. ncbi [Type I neurofibromatosis presenting as a progressive cervical myelopathy. The first case reported in Kaxinawa Indians]
    F J Carod Artal
    , Hospital Sarah, Brasilia DF, Brasil
    Rev Neurol 31:307-10. 2000
    ....
  81. pmc Eight-year follow-up of a girl with McCune-Albright syndrome
    Zehra Aycan
    Pediatric Endocrinologist, Dr Sami Ulus Obstetrics and Gynecology, Childrens Health and Disease Training and Research Hospital, Department of Pediatric Endocrinology, Ankara, Turkey
    J Clin Res Pediatr Endocrinol 3:40-2. 2011
    ..She had no menses during aromatase inhibitor treatment. Her growth rate and bone maturation were in normal ranges while on treatment. She had one new fracture on the seventh year of follow- up in spite of bisphosphonate treatment...
  82. doi NF-1Score: a prediction score for internal neurofibromas in neurofibromatosis-1
    Emilie Sbidian
    Universite Paris 12, LIC EA4393 Laboratoire d Investigation Clinique, Creteil, France
    J Invest Dermatol 130:2173-8. 2010
    ..75) in both data sets. The presence of internal neurofibromas can be accurately predicted using a simple clinical score. Further work will establish the score threshold that identifies patients at high risk for complications...
  83. doi Ovarian dysfunction by activating mutation of GS alpha: McCune-Albright syndrome as a model
    P Chanson
    Assistance Publique Hopitaux de Paris, Service d endocrinologie et des maladies de la reproduction, Hopital de Bicetre, Universite Paris Sud 11, Faculte de Medecine Paris Sud, Inserm U693, 78, rue du General Leclerc, 94275 Le Kremlin Bicetre, France
    Ann Endocrinol (Paris) 71:210-3. 2010
    ..Gonadal function and fertility are often abnormal in women in whom puberty was precocious, owing to the persistence of a variable degree of ovarian autonomy that hinders adequate follicular development and ovulation...
  84. doi Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome
    Ludwine Messiaen
    Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, 720 20th St S, Birmingham, AL 35294, USA
    JAMA 302:2111-8. 2009
    ..The extent of the clinical spectrum of this new disorder needs further delineation...
  85. doi Predictive value of café au lait macules at initial consultation in the diagnosis of neurofibromatosis type 1
    Kara S Nunley
    Department of Dermatology, Washington University School of Medicine, St Louis, MO 63110, USA
    Arch Dermatol 145:883-7. 2009
    ....
  86. ncbi [Cranioencephalic cutaneous angiofibromatosis]
    M Nieto
    , , Sevilla,
    Rev Neurol 24:1267-71. 1996
    ..We discuss whether the presentation of this case of encephalocraneo-cutaneous angiofibromatosis is a new phenotype of tuberose sclerosis or a new neurocutaneous syndrome...
  87. doi 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...
  88. pmc Phenotypic variability among café-au-lait macules in neurofibromatosis type 1
    Kevin P Boyd
    Department of Dermatology, University of Alabama at Birmingham, Birmingham, Alabama, USA
    J Am Acad Dermatol 63:440-7. 2010
    ..Café-au-lait macules (CALMs) in neurofibromatosis type 1 (NF1) are an early and accessible phenotype in NF1, but have not been extensively studied...
  89. pmc Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group
    Abdullah Mahmood Ali
    Experimental Hematology and Cancer Biology, Cincinnati Children s Research Foundation, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229, USA
    Hum Mutat 30:E761-70. 2009
    ..We identified bi-allelic novel mutations in the FANCL gene and functionally characterized them. To the best of our knowledge, this is the second reported case belonging to the FA-L complementation group...
  90. ncbi [Lisch nodules. Markers for a non-invasive diagnosis in Recklinghausen neurofibromatosis]
    Maria Crisan
    UMF Iuliu Hatieganu Cluj Napoca
    Oftalmologia 52:56-61. 2008
    ..The disease is associated with different nervous system, bone, endocrine, blood vascular abnormalities...
  91. ncbi Common pigmentation disorders
    Scott Plensdorf
    McLaren Family Practice Residency Program, MI, USA
    Am Fam Physician 79:109-16. 2009
    ..Patients with extensive disease may be candidates for depigmentation therapy. Other acquired disorders may improve or resolve with treatment of the underlying condition...
  92. ncbi Four generations in a family with neurofibromatosis 1: precocious puberty and optic nerve tumor (OPT)
    Z Gucev
    Faculty of Medicine, Ss Cyril and Methodius University, Skopje, R Macedonia
    Prilozi 31:253-9. 2010
    ..His penis was 10 cm, testicles 8 ml, pubic hair P2-3, and the genital skin was hyperpigmented. Multiple cafe au lait spots well above 5 mm were noticeable on his skin, as well as hard subcutaneous nodules, mostly on his trunk...
  93. ncbi [Clinical study of neurofibromatosis type 1]
    Y Lozada
    , Hospital Infantil Sur, Santiago de Cuba, Cuba
    Rev Neurol 27:792-5. 1998
    ..A detailed questionnaire and physical examination was done to obtain a clinical outline. CONCLUSION: Suspicion of this condition, together with laboratory investigations led to the conclusion that the cases were neurofibromatosis...
  94. ncbi Intraoral findings and other developmental conditions in Mexican neonates
    Sharon Freudenberger
    Department of Pediatric Dentistry, MetroHealth Medical Center, Cleveland, Ohio, USA
    J Dent Child (Chic) 75:280-6. 2008
    ..The objective of this study was to investigate the prevalence of intraoral findings and other minor developmental malformations in newborns from San Luis Potosi, Mexico...
  95. ncbi Genetic and clinical considerations in six cases with neurofibromatosis type 1
    Elena Buteică
    Department of Genetics, University of Medicine and Pharmacy of Craiova, Romania
    Rom J Morphol Embryol 48:243-8. 2007
    ..The novo mutations in NF1 gene cause the disease in three cases, and in other three cases, the mutation is inherited (two cases on father side and one case on mother side)...
  96. ncbi Plexiform neurofibroma of the tongue: a case report of a child
    Enis Alpin Guneri
    Department of Oto Rhino Laryngology, Head and Neck Surgery, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey
    Turk J Pediatr 48:155-8. 2006
    ..Affected patients need regular follow-up to detect malignant degeneration, an early recurrence or appearance of other manifestations of VRD...
  97. ncbi Clinical manifestations and management of neurofibromatosis type 1
    James H Tonsgard
    Departments of Pediatrics and Neurology, Pritzker School of Medicine, The University of Chicago, Chicago, IL 60637, USA
    Semin Pediatr Neurol 13:2-7. 2006
    ..The major cause of death is malignancy, including brain tumors and malignant peripheral nerve sheath tumors. Management includes genetic counseling, regular eye examinations, and careful physical exams...
  98. ncbi A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer
    Fred H Menko
    Department of Clinical Genetics and Human Genetics, VU University Medical Center, Amsterdam, The Netherlands
    Fam Cancer 3:123-7. 2004
    ..Apparently, not only MLH1, MSH2 and PMS2, but also MSH6 is involved in the syndrome of childhood cancer and signs of neurofibromatosis type 1...
  99. ncbi [Diagnosis at a glance: cafe au lait spots of the back and "freckles" in the axilla]
    F Meyer
    MMW Fortschr Med 146:69. 2004
  100. pmc Ophthalmological manifestations in segmental neurofibromatosis type 1
    M Ruggieri
    Institute of Neurological Science, National Research Council CNR, Viale R Margherita, 6, 95125 Catania, Italy
    Br J Ophthalmol 88:1429-33. 2004
    ..To study the ophthalmological manifestations in individuals with the typical features of neurofibromatosis type 1 (NF1) circumscribed to one or more body segments, usually referred to as segmental NF1...
  101. pmc Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1
    M Lammert
    Department of Maxillofacial Surgery, University Hospital Eppendorf, Hamburg, Germany
    J Med Genet 43:810-3. 2006
    ..572, p<0.00001). The occurrence of low serum vitamin D concentrations in people with NF1, especially those with many dermal neurofibromas, may provide new pathogenic insights and have important therapeutic implications...

Research Grants23

  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. Phenotyping & genotype-phenotype correlations in NF1
    Bruce Korf; Fiscal Year: 2006
    ..abstract_text> ..
  3. METABOLISM IN NORMAL AND OSTEOARTHRITIC CARTILAGE
    Henry Mankin; Fiscal Year: 1991
    ..The receptors for this cytokine on normal and OA chondrocytes will be quantitated. Further definition of these cartilage metabolic pathways are of primary importance in our understanding of osteoarthritis...
  4. Comprehensive NF1 Mutational Analysis in Leukemia Cells
    Ludwine Messiaen; Fiscal Year: 2006
    ..abstract_text> ..