Genomes and Genes
cafe au lait spots
Summary: Light brown pigmented macules associated with NEUROFIBROMATOSIS and Albright's syndrome (see FIBROUS DYSPLASIA, POLYOSTOTIC).
Publications157 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- [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...
- 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
- 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...
- 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...
- 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...
- 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
- [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...
- 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...
- [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...
- 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...
- 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 ..
- 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...
- 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...
- 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...
- [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...
- 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...
- [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...
- 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...
- 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...
- 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.
- Café-au-lait macules: are these markers of neoplasia of genetic origin?Gurvinder P Thami
Dermatology 208:234-5. 2004
- Familial hyper- and hypopigmentation with age-related pattern changeJoe J Hoo
Am J Med Genet A 132:215-8. 2005
- Neurofibromatosis type 1: pathology, clinical features and molecular geneticsA 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...
- 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...
- Infantile onset neurofibromatosis type 2 presenting with peripheral facial palsy, skin patches, retinal hamartoma and foot dropD 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...
- [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...
- 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...
- Non-ossifying fibroma, fibrous cortical defect and Jaffe-Campanacci syndrome: a biologic and clinical reviewHenry 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...
- Clinical, radiological and endocrinological findings in a case of McCune-Albright syndromeYam 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...
- Neurofibromatosis Type 1 Associated with Hashimoto's Thyroiditis: Coincidence or Possible LinkJunaid 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...
- Epidermal hyperpigmentation in non-syndromic solitary cafe-au-lait macules may be associated with increased secretion of endothelin-1 by lesional keratinocytesMutsumi 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...
- The use of lasers and intense pulsed light sources for the treatment of pigmentary lesionsH 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...
- Congenital smooth muscle hamartoma: the importance of differentiation from melanocytic neviChristopher 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...
- 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...
- Bilateral nevus of Ito and nevus spilus in the same patientFelicidade Trindade
J Am Acad Dermatol 59:S51-2. 2008
- A case of McCune-Albright syndrome with associated multiple endocrinopathiesSang 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)...
- Genetic diagnosis of multiple affected tissues in a patient with McCune-Albright syndromeJi 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...
- 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...
- [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...
- 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...
- Treatment of 153 Japanese patients with Q-switched alexandrite laserShinji 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...
- McCune-Albright syndromeMehdi Hamadani
Department of Internal Medicine, Oklahoma University Health Sciences Center, Oklahoma City, OK, USA
Med J Aust 185:597. 2006
- Physical signs for the general dental practitioner. Case 39. Café au lait spots due to neurofibromatosisSteve Bain
University of Wales, Swansea
Dent Update 33:572. 2006
- [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
- 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...
- Juvenile papillomatosis of the breast associated with neurofibromatosis 1Tiong Yang Tan
Pediatr Blood Cancer 49:363-4. 2007
- 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...
- Segmental lentiginosis and café au lait spots within naevoid hypopigmentationK Kabashima
J Eur Acad Dermatol Venereol 22:397-8. 2008
- [Neurofibromatosis type 2 in a child - diagnostic difficulties]Monika Marona
Klinika Neurologii, Collegium Medicum Uniwersytetu Jagiellońskiego, Krakow
Neurol Neurochir Pol 42:178-84. 2008
- Johanson--blizzard syndromeM 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...
- 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...
- Speckled lentiginous nevus syndrome: delineation of a new distinct neurocutaneous phenotypeRudolf 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...
- [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...
- Diffuse plexiform neurofibroma in a 13-year-old girlAmor Khachemoune
Georgetown University Medical Center, USA
Dermatol Online J 9:23. 2003
- Musculoskeletal manifestations of Russell-Silver syndromeEdward 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...
- Congenital triangular alopecia in association with congenital heart diseases, bone and teeth abnormalities, multiple lentigines and café-au-lait patchesSung Wook Park
Department of Dermatology, Busan Paik Foundation Hospital, and Inje University Medical College, Busan, Korea
Int J Dermatol 43:366-7. 2004
- [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...
- Microcephalic osteodysplastic primordial short stature type II with café-au-lait spots and moyamoya disease: another patientIan D Young
Am J Med Genet A 127:218-20. 2004
- 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...
- 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?..
- Association of juvenile xanthogranuloma with cafÃ©-au-lait maculesG 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...
- 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...
- Diagnosis and management of neurofibromatosis type 1B 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...
- Juvenile papillomatosis of the breast in a male infant with Noonan syndrome, café au lait spots, and family history of breast carcinomaMaurizio 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...
- 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...
- 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...
- Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 geneD 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...
- [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...
- 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...
- [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....
- [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...
- 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...
- 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...
- 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...
- 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. ..
- 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: 2000....
- LINKAGE STUDIES IN NEUROFIBROMATOSISFrancis 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...
- Phenotyping & genotype-phenotype correlations in NF1Bruce Korf; Fiscal Year: 2006..abstract_text> ..
- Comprehensive NF1 Mutational Analysis in Leukemia CellsLudwine Messiaen; Fiscal Year: 2006..abstract_text> ..