Genomes and Genes
cafe au lait spots
Summary: Light brown pigmented macules associated with NEUROFIBROMATOSIS and Albright's syndrome (see FIBROUS DYSPLASIA, POLYOSTOTIC).
Publications125 found, 100 shown here
- Manifestations of the tongue in Neurofibromatosis type 1M 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...
- A child with axillary freckling and café au lait spotsStephen Wainer
Department of Pediatrics, University of Calgary, Alberta Children s Hospital
CMAJ 167:282-3. 2002
- [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...
- Neurofibromatosis type 1 in a pediatric population: Ste-Justine's experienceJ 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...
- Partial unilateral lentiginosis with ipsilateral Lisch nodules and axillary frecklingWenChieh 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...
- Tamoxifen treatment for precocious puberty in McCune-Albright syndrome: a multicenter trialErica 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)...
- Image diagnosis in McCune-Albright syndromeClaudio 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...
- Fracture incidence in polyostotic fibrous dysplasia and the McCune-Albright syndromeArabella 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...
- Familial segmental neurofibromatosisSibel 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...
- Bilateral segmental neurofibromatosis with gastric carcinomaA 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...
- Diffuse plexiform neurofibroma in a 13-year-old girlAmor Khachemoune
Georgetown University Medical Center, USA
Dermatol Online J 9:23. 2003
- Treatment of pigmented lesions of neurofibromatosis 1 with intense pulsed-radio frequency in combination with topical application of vitamin D3 ointmentYuichi 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...
- Analysis of neurofibromatosis 1 (NF1) lesions by body segmentChana 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...
- Common hyperpigmentation disorders in adults: Part I. Diagnostic approach, café au lait macules, diffuse hyperpigmentation, sun exposure, and phototoxic reactionsDaniel 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...
- A case of non-Hodgkin's lymphoma in a patient with neurofibromatosis type 1Seok 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...
- Pulmonary hypertension in neurofibromatosisPeter 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...
- [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. 2007We 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...
- Pulmonary artery aneurysm and coronary artery disease in the clinical presentation of watson syndromeJames 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...
- Prevalence of neurofibromatosis 1 in German children at elementary school enrollmentMarga 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...
- Pigment cell-related manifestations in neurofibromatosis type 1: an overviewSofie 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...
- Autoimmune haemolysis as an unusual cause of anaemia in von Recklinghausen's diseaseF 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...
- Juvenile papillomatosis of the breast associated with neurofibromatosis 1Tiong Yang Tan
Pediatr Blood Cancer 49:363-4. 2007
- Von recklinghausen neurofibromatosis-pachydermatocele causing lower limb gigantism: a case reportArcot 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...
- Malignant triton tumor of the pelvis in a 2-year-old boyFatma 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...
- [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...
- McCune-Albright syndrome: clinical picture and natural history in children and adolescentsThomas 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...
- [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...
- Segmental neurofibromatosis in childhoodRobert 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...
- A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spotsDarcy 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...
- [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
- Coexistence of Mayer-Rokitansky-Kuster-Hauser syndrome and neurofibromatosis type ISavas 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...
- [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...
- 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...
- McCune-Albright syndromeClaudia 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...
- 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...
- A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patientK 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...
- 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 ..
- [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...
- [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...
- Bone abnormalities occurring in the follow-up of the patients with neurofibromatosis type 1E 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...
- Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patientsE Ars
Centre de Genètica Mèdica i Molecular IRO, Hospital Duran i Reynals, Barcelona, Spain
J Med Genet 40:e82. 2003
- Segmental unilateral lentiginosis in generalized neurofibromatosis type 1Roongroj 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
- GNAS mutation detection is related to disease severity in girls with McCune-Albright syndrome and precocious pubertyHeather 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...
- 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...
- 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 factorM 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...
- LEOPARD syndrome: clinical diagnosis in the first year of lifeM 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...
- Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2Elizabeth 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)...
- Neurological complications involving the central nervous system in neurofibromatosis type 1Hsiang 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...
- The biology and management of laryngeal neurofibromaReza 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...
- [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...
- Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignanciesJan 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...
- 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 correlationM 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...
- Neurofibromatosis type 1 associated with dysplastic nevus syndromeZrinjka 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...
- Gingival neurofibroma in a neurofibromatosis type 1 patientJosé 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...
- The different forms of neurofibromatosisM 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...
- [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...
- McCune-Albright syndrome in adulthoodPhilippe 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...
- Von Recklinghausen's disease associated with malignant peripheral nerve sheath thmor presenting with constipation and urinary retention: a case report and review of the literatureParthena 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...
- Prenatal diagnosis of Fanconi anemia (Group C) subsequent to abnormal sonographic findingsAmy 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...
- 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.
- [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...
- A complex association between derivatives from the neural crest. A case reportM 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 ..
- Intraosseous neurofibroma and concurrent involvement of the mandible, maxilla and orbit: report of a caseZahra Dalili
Department of Maxillofacial Radiology, Dental School, Guilan University of Medical Sciences, Rasht, Iran
Iran J Radiol 9:45-9. 2012....
- Neurofibromatosis, stroke and basilar impression. Case reportE 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...
- Congenital (infantile) pseudarthrosis of the fibula associated with osteofibrous dysplasiaMasanori 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...
- [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...
- The use of lasers in the treatment of cutaneous lesionsD 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...
- Autoimmune diseases associated with neurofibromatosis type 1Arti 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...
- Giant plexiform neurofibroma and suboccipital meningocele manifesting as segmental neurofibromatosisMasanori 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...
- Café-au-lait macules: occasional fatal sequels of benign pigmented lesionsAngel 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...
- Prevalence of skin disease among school children and adolescents in a Student Health Service Center in Hong KongW 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...
- Clinical, endocrinological and radiography features in a child with McCune-Albright syndrome and pituitary adenomaW 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...
- Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2Carl 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...
- 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...
- Treatment of a cafÃ©-au-lait macule with the erbium:YAG laserM 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" cafÃ©-au-lait macule that was successfully treated with the erbium:YAG laser...
- 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 mutationC P Kratz
Leukemia 22:1078-80. 2008
- Infantile McCune-Albright syndromeJ 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...
- Coexistence of autosomal dominant polycystic kidney disease and neurofibromatosis: report of a familyMeng 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...
- Plexiform neurofibroma of the penis associated with erectile dysfunction due to arterial steelingGiulio 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...
- [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....
- Eight-year follow-up of a girl with McCune-Albright syndromeZehra 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...
- NF-1Score: a prediction score for internal neurofibromas in neurofibromatosis-1Emilie 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...
- Ovarian dysfunction by activating mutation of GS alpha: McCune-Albright syndrome as a modelP 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...
- Clinical and mutational spectrum of neurofibromatosis type 1-like syndromeLudwine 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...
- Predictive value of café au lait macules at initial consultation in the diagnosis of neurofibromatosis type 1Kara S Nunley
Department of Dermatology, Washington University School of Medicine, St Louis, MO 63110, USA
Arch Dermatol 145:883-7. 2009....
- [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...
- Neurofibromatosis type 1 with overlap Turner syndrome and Klinefelter syndromeNihal 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...
- Phenotypic variability among café-au-lait macules in neurofibromatosis type 1Kevin 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...
- Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation groupAbdullah 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...
- [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...
- Common pigmentation disordersScott 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...
- 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...
- [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...
- Intraoral findings and other developmental conditions in Mexican neonatesSharon 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...
- Genetic and clinical considerations in six cases with neurofibromatosis type 1Elena 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)...
- Plexiform neurofibroma of the tongue: a case report of a childEnis 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...
- Clinical manifestations and management of neurofibromatosis type 1James 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...
- A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancerFred 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...
- [Diagnosis at a glance: cafe au lait spots of the back and "freckles" in the axilla]F Meyer
MMW Fortschr Med 146:69. 2004
- Ophthalmological manifestations in segmental neurofibromatosis type 1M 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...
- Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1M 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...
- METABOLISM IN NORMAL AND OSTEOARTHRITIC CARTILAGEHenry 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. ..
- CLONAL ANALYSIS OF NERVOUS SYSTEM TUMORSLEE JACOBY; Fiscal Year: 1993..These investigations should reveal quantitative or qualitative alterations in the NF1 messenger RNA. These studies should increase our understanding of the mechanisms by which tumors arise in NF and should facilitate their treatment...
- CLONAL ANALYSIS OF NERVOUS SYSTEM TUMORSLEE JACOBY; Fiscal Year: 1991..These investigations should reveal quantitative or qualitative alterations in the NF1 messenger RNA. These studies should increase our understanding of the mechanisms by which tumors arise in NF and should facilitate their treatment...
- GENETIC AND MOLECULAR STUDIES OF NEUROFIBROMATOSIS 1James Gusella; Fiscal Year: 2000....
- REGULATION OF NF1 GENE EXPRESSION DURING DIFFERENTIATIONDavid 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. ..
- GENETIC AND MOLECULAR STUDIES OF NEUROFIBROMATOSIS 1James Gusella; Fiscal Year: 1999....
- LINKAGE STUDIES IN NEUROFIBROMATOSISFrancis Collins; Fiscal Year: 1990..Finally, we will attempt to define the function of the normal gene by DNA transfer experiments into cultured cell lines and transgenic mice...
- Phenotyping & genotype-phenotype correlations in NF1Bruce Korf; Fiscal Year: 2006..abstract_text> ..
- Phenotyping & genotype-phenotype correlations in NF1Bruce Korf; Fiscal Year: 2005..abstract_text> ..
- Phenotyping & genotype-phenotype correlations in NF1Bruce Korf; Fiscal Year: 2004..abstract_text> ..
- Phenotyping & genotype-phenotype correlations in NF1Bruce Korf; Fiscal Year: 2004..abstract_text> ..
- Phenotyping & genotype-phenotype correlations in NF1Bruce Korf; Fiscal Year: 2003..abstract_text> ..
- Phenotyping & genotype-phenotype correlations in NF1Bruce Korf; Fiscal Year: 2002..abstract_text> ..
- METABOLISM IN NORMAL AND OSTEOARTHRITIC CARTILAGEHenry Mankin; Fiscal Year: 2000..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. ..
- METABOLISM IN NORMAL AND OSTEOARTHRITIC CARTILAGEHenry Mankin; Fiscal Year: 1999..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. ..
- METABOLISM IN NORMAL AND OSTEOARTHRITIC CARTILAGEHenry 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...
- Comprehensive NF1 Mutational Analysis in Leukemia CellsLudwine Messiaen; Fiscal Year: 2006..abstract_text> ..