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    1690 results match your criteria Cowden Disease Multiple Hamartoma Syndrome

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    Familial Pallister-Hall in adulthood.
    • Authors:
    Neuro Endocrinol Lett 2017 Oct 6;38(5):329-331. Epub 2017 Oct 6.
    Pallister Hall syndrome is autosomal dominant disorder usually diagnosed in infants and children. Current diagnostic criteria include presence of hypothalamic hamartoma, post axial polydactyly and positive family history, but the disease has variable manifestations. Herein we report Pallister Hall syndrome diagnosed in a family where both patients were adults. Read More

    [Hamartoma of the abdominal cavity and retroperitoneum- a review and a case report].
    Rozhl Chir 2017 ;96(9):375-382
    Methods: We have reviewed recent as well as older literature with the intention of compiling a summary report on hamartomas of the abdominal cavity and retroperitoneum.

    Introduction: Hamartoma of the abdominal cavity and retroperitoneum is a rare condition which has received relatively little attention.

    Results: The most commonly affected organs are the liver, spleen, digestive tract, pancreas and kidneys. Read More

    Dermal Hyperneury and Multiple Sclerotic Fibromas in Multiple Endocrine Neoplasia Type 2A Syndrome.
    JAMA Dermatol 2017 Oct 18. Epub 2017 Oct 18.
    Department of Dermatology, Fundación Jiménez Diaz, Universidad Autónoma, Madrid, Spain.
    Importance: Multiple endocrine neoplasia type 2 (MEN 2) syndrome is an autosomal dominant, hereditary cancer disorder caused by germline mutations in the RET (formerly MEN2A, MEN2B) proto-oncogene located on chromosomal band 10q11.21. Two distinct clinical forms have been described as the following phenotypes: multiple endocrine neoplasia type 2A (MEN 2A) and multiple endocrine neoplasia type 2B (MEN 2B) syndromes. Read More

    Liver transplantation as definitive treatment of an unresectable mesenchymal hamartoma in a child with Beckwith-Wiedemann Syndrome.
    J Surg Case Rep 2017 Aug 31;2017(8):rjx167. Epub 2017 Aug 31.
    Michael E DeBakey Department of Surgery, Division of Abdominal Transplantation, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA.
    Mesenchymal liver hamartomas are benign tumors that can cause life-threatening abdominal distension and carry a risk for malignant transformation. In this case report, we describe a 13-month-old male with Beckwith-Wiedemann Syndrome (BWS) who presented with multiple mesenchymal liver hamartomas causing severe intra-abdominal mass effect. Imaging revealed six large multi-locular cystic lesions, ranging from 3. Read More

    Clinical and sonographic features of pediatric soft-tissue vascular anomalies part 2: vascular malformations.
    Pediatr Radiol 2017 Aug 4;47(9):1196-1208. Epub 2017 Aug 4.
    Department of Diagnostic Imaging, The Hospital for Sick Children, 555 University Ave., Toronto, ON, M5G 1X8, Canada.
    Vascular malformations are a heterogeneous group of entities, many of which present in the pediatric age group. Sonography plays a major role in the management of children with these vascular anomalies by providing information that helps in diagnosing them, in assessing lesion extent and complications, and in monitoring response to therapy. The interpretation of sonographic findings requires correlation with clinical findings, some of which can be easily obtained at the time of scanning. Read More

    Frequent vomiting attacks in a patient with Lhermitte-Duclos disease: a rare pathophysiology of cerebellar lesions?
    J Neurosurg Pediatr 2017 Sep 23;20(3):298-301. Epub 2017 Jun 23.
    Department of Neurosurgery.
    Lhermitte-Duclos disease (LDD) is a neurological disease caused by a hamartomatous lesion in the cerebellum. Clinically, LDD is commonly associated with progressive space-occupying lesion effects in the posterior fossa, increasing intracranial pressure, occlusive hydrocephalus, and focal neurological deficits of adjacent structures. The authors report the case of a 10-year-old boy with LDD who had been suffering from vomiting attacks (VAs). Read More

    Analysis of genotypes and phenotypes in Chinese children with tuberous sclerosis complex.
    Sci China Life Sci 2017 Jul 14;60(7):763-771. Epub 2017 Jun 14.
    Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
    Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome with serious clinical presentations, an autosomal dominant genetic disorder involving multiple organs and systems. We retrospectively investigated the clinical manifestations and genotypes of 20 Chinese children with TSC to enable informed diagnostic and surveillance recommendations in China. A retrospective analysis of clinical manifestations in 20 children (7. Read More

    PTEN, DICER1, FH, and Their Associated Tumor Susceptibility Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.
    Clin Cancer Res 2017 Jun;23(12):e76-e82
    Department of Human Genetics and Research Institute, McGill University Health Centre, McGill University, Montreal, Québec, Canada.
    PTEN hamartoma tumor syndrome (PHTS), DICER1 syndrome, and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome are pleiotropic tumor predisposition syndromes that include benign and malignant neoplasms affecting adults and children. PHTS includes several disorders with shared and distinct clinical features. These are associated with elevated lifetime risk of breast, thyroid, endometrial, colorectal, and renal cancers as well as melanoma. Read More

    Refractory sleep-disordered breathing due to unilateral lingual tonsillar hypertrophy in a child with Proteus Syndrome.
    Int J Pediatr Otorhinolaryngol 2017 Apr 14;95:114-116. Epub 2017 Feb 14.
    School of Medicine, University of California San Diego, La Jolla, CA, USA; Department of Surgery, Division of Otolaryngology-Head & Neck Surgery, University of California San Diego, San Diego, CA, USA; Department of Otolaryngology, Rady Children's Hospital San Diego, University of California San Diego, San Diego, CA, USA. Electronic address:
    Proteus Syndrome (PS) is a rare congenital overgrowth disease affecting bones, skin, adipose and the central nervous system. The result is asymmetric, disfiguring hypertrophy which can manifest as craniofacial dysmorphia and aerodigestive tract abnormalities. We report the case of obstructive lingual tonsillar hypertrophy resulting in residual sleep disordered breathing after adenotonsillectomy in a child with PS, a previously unrecognized manifestation of the disease. Read More

    Lhermitte-Duclos Disease (Dysplastic Gangliocytoma of the Cerebellum) and Cowden Syndrome: Clinical Experience From a Single Institution with Long-Term Follow-Up.
    World Neurosurg 2017 Aug 4;104:398-406. Epub 2017 May 4.
    Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China. Electronic address:
    Background: Adult-onset Lhermitte-Duclos disease (LDD) and Cowden syndrome (CS) are considered a single phakomatosis that belongs to PTEN hamartoma tumor syndrome (PHTS) now. There is still controversy regarding the diagnosis and treatment. The authors describe the clinical features of LDD and CS with long-term follow up. Read More

    Treatment-resistant Lennox-Gastaut syndrome: therapeutic trends, challenges and future directions.
    Neuropsychiatr Dis Treat 2017 20;13:1131-1140. Epub 2017 Apr 20.
    Department of Pediatrics, Baylor College of Medicine, The Children's Hospital of San Antonio, San Antonio, TX, USA.
    Lennox-Gastaut syndrome is a severe, childhood-onset electroclinical syndrome comprised of multiple seizure types, intellectual and behavioral disturbances and characteristic findings on electroencephalogram of slow spike and wave complexes and paroxysmal fast frequency activity. Profound morbidity often accompanies a common and severe seizure type, the drop attack. Seizures often remain refractory, or initial treatment efficacy fades. Read More

    Peutz-Jeghers syndrome with intermittent upper intestinal obstruction: A case report and review of the literature.
    Medicine (Baltimore) 2017 Apr;96(17):e6538
    aDepartment of Pediatric Surgery, The Second Affiliated Hospital of Shantou University Medical College, Shantou, Guangdong, China bDepartment of Radiology, The First Affiliated Hospital of Shantou University Medical College, Shantou, Guangdong, China.
    Rationale: Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic syndrome characterized by a unique type of gastrointestinal hamartomatous polyp associated with oral and anal mucocutaneous pigmentations. Peutz-Jeghers polyps occur most numerously in the small intestine but frequently in the colon and stomach, only a few cases have been reported in the duodenum.

    Patient Concern: A further family history survey discovered 10 out of 14 members of the family (in 4 generations) had mucocutaneous pigmentations, but many of them were living in rural areas where they had no access to specialized medical services, so none were checked with endoscopy for polyps of hamartoma. Read More

    Association of autoimmune thyroiditis and celiac disease with Juvenile Polyposis due to 10q23.1q23.31 deletion: Potential role of PI3K/Akt pathway dysregulation.
    Eur J Med Genet 2017 Jul 18;60(7):380-384. Epub 2017 Apr 18.
    Department of Biomedical Sciences and Human Oncology, Medical Genetics Unit, Aldo Moro University of Bari, Italy.
    Juvenile Polyposis (JP) is a rare hereditary condition characterized by diffuse hamartomatous gastrointestinal polyposis, associated with a significantly increased risk of neoplastic transformation. Most of the cases are caused by SMAD and BMPR1A mutations, while 10q23 microdeletions, encompassing both PTEN and BMPR1A oncogenes, are extremely rare, typically associated with more aggressive JP, and extraintestinal features overlapping with PTEN Hamartoma Tumor Syndrome. We present the first case of a young female with multiple autoimmune disorders (i. Read More

    [A Case of Arteriovenous Malformation of the Parotid Gland Associated with Cowden Disease].
    No Shinkei Geka 2017 Apr;45(4):333-338
    Department of Neurosurgery, National Hospital Organization Iwakuni Clinical Center.
    We report a rare case of arteriovenous malformation(AVM)of the parotid gland associated with Cowden disease successfully treated with preoperative embolization followed by surgical removal. A 39-year-old man with a history of Cowden disease presented with a pulsating and growing mass on his left lower jaw. Contrast-enhanced computed tomography(CT)and angiography revealed a high-flow AVM in the deep lobe of the left parotid gland. Read More

    Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn.
    Am J Med Genet A 2017 Jun 6;173(6):1586-1592. Epub 2017 Apr 6.
    Department of Pediatrics, University of California San Diego and Rady Children's Hospital - San Diego, San Diego, California.
    Curry-Jones syndrome (CJS) is a pattern of malformation that includes craniosynostosis, pre-axial polysyndactyly, agenesis of the corpus callosum, cutaneous and gastrointestinal abnormalities. A recurrent, mosaic mutation of SMO (c.1234 C>T; p. Read More

    Intranodal meningothelial proliferation in a patient with Cowden syndrome: a case report.
    Hum Pathol 2017 Aug 14;66:183-187. Epub 2017 Mar 14.
    Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center, 1 Medical Center Dr, Lebanon, NH 03756, USA. Electronic address:
    Ectopic meningothelial proliferations are rare and can occur in a multitude of extracranial/spinal anatomic locations. Perineurioma is another uncommon entity that shares similar histological characteristics to those found in meningothelial proliferations. These include bland spindle cells with thin, bipolar nuclei; eosinophilic cytoplasm; and indistinct cell borders, arranged in short fascicles with whorl formation. Read More

    Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence?
    Eur J Med Genet 2017 May 7;60(5):261-264. Epub 2017 Mar 7.
    Neuroradiology Department, Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy.
    PTEN hamartoma tumor syndrome (PHTS) refers to a group of clinical conditions caused by germline mutations in the PTEN tumor suppressor gene. Increasing evidence has documented that PHTS may be associated with a broader spectrum of structural brain abnormalities, including dysplastic gangliocytoma of the cerebellum, brain tumors, vascular malformations, white matter abnormalities, dilated perivascular spaces and cortical dysplasia. We report a PTEN-mutated child showing macrocephaly, mild intellectual disability and epilepsy symptomatic of right occipital polymicrogyria, who also developed Chiari I Malformation (CIM) that repeatedly required surgical correction. Read More

    Cowden syndrome-associated germline succinate dehydrogenase complex subunit D (SDHD) variants cause PTEN-mediated down-regulation of autophagy in thyroid cancer cells.
    Hum Mol Genet 2017 Apr;26(7):1365-1375
    Genomic Medicine Institute.
    Thyroid cancer is a major component cancer of Cowden syndrome (CS), a disorder typically associated with germline mutations in PTEN. Germline variants in succinate dehydrogenase genes (SDHx) co-occurring with PTEN germline mutations confer a 2-fold increased prevalence (OR 2.7) of thyroid cancer compared to PTEN-associated CS but 50% decreased prevalence (OR 0. Read More

    Lhermitte-Duclos disease associated to Cowden syndrome: de novo diagnosis and management of these extremely rare syndromes in a patient.
    BMJ Case Rep 2017 Jan 30;2017. Epub 2017 Jan 30.
    Ophthalmology Department, University Hospital Santa Maria, North Lisbon Hospital Center, Lisbon, Portugal.
    A 36-year-old woman, with history of cutaneous papilomatosis and thyroid carcinoma presented with headache, transitory visual blurring and nausea. Funduscopy showed papilloedema. MRI showed a tumour of the right cerebellar hemisphere with a striated, tigroid pattern, typical of Lhermitte-Duclos disease (LDD). Read More

    Germline compound heterozygous poly-glutamine deletion in USF3 may be involved in predisposition to heritable and sporadic epithelial thyroid carcinoma.
    Hum Mol Genet 2017 Jan;26(2):243-257
    Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, OH, USA.
    Cowden syndrome (CS) is an autosomal dominant disorder that predisposes to breast, thyroid, and other epithelial cancers. Differentiated thyroid carcinoma (DTC), as one of the major component cancers of CS, is the fastest rising incident cancer in the USA, and the most familial of all solid tumours. To identify additional candidate genes of CS and potentially DTC, we analysed a multi-generation CS-like family with papillary thyroid cancer (PTC), applying a combined linkage-based and whole-genome sequencing strategy and identified an in-frame germline compound heterozygous deletion, p. Read More

    Redundant plantar skin folds.
    Rom J Morphol Embryol 2016 ;57(3):1085-1088
    Department of Rheumatology, "Iuliu Hatieganu" University of Medicine and Pharmacy, Cluj-Napoca, Romania;
    A 46-year-old female patient presented with photosensitivity, symmetric arthritis, episodic plantar pain and strikingly redundant plantar skin folds, likely due to lipoatrophy after recurrent episodes of plantar panniculitis. In this context, leukopenia with lymphopenia, thrombocytopenia and positive antinuclear antibodies were revelatory for systemic lupus erythematosus. However, a small cerebriform plantar collagenoma, along with discrete dysmorphic features with downslanting palpebral fissures and mild right ptosis, second and third syndactyly and a larger first right toe since childhood, and early-onset bilateral ovarian cystadenoma, suggested a minimal Proteus syndrome. Read More

    Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway.
    Dermatol Clin 2017 Jan;35(1):51-60
    Department of Dermatology, Uniformed Services University of the Health Sciences, 4301 Jones Bridge Road, Bethesda, MD 20814, USA. Electronic address:
    Somatic mutations in genes of the PI3K/PTEN/AKT/TSC/mTORC1 signaling pathway cause segmental overgrowth, hamartomas, and malignant tumors. Mosaicism for activating mutations in AKT1 or PIK3CA cause Proteus syndrome and PIK3CA-Related Overgrowth Spectrum, respectively. Postzygotic mutations in PTEN or TSC1/TSC2 cause mosaic forms of PTEN hamartoma tumor syndrome or tuberous sclerosis complex, respectively. Read More

    Cowden Syndrome: Serendipitous Diagnosis in Patients with Significant Breast Disease. Case Series and Literature Review.
    Breast J 2017 Jan 25;23(1):90-94. Epub 2016 Nov 25.
    Mater Misericordiae University Hospital, Dublin, Ireland.
    Cowden syndrome (CS) is a multi-system disease that carries an increased lifetime risk of developing certain cancers as well as benign neoplasms. The presence of features of CS in the general unaffected population results in difficulties in the recognition and diagnosis of this condition. Early diagnosis is essential to prevent the development of malignant neoplasms, yet despite the introduction of diagnostic criteria and risk calculators, accurate diagnosis remains a challenge. Read More

    An unusual case of incomplete Carney triad: an 18-year-old girl suffering from multiple benign tumors.
    J Thorac Dis 2016 Oct;8(10):E1202-E1206
    Department of General Thoracic Surgery, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China.
    Carney triad is a rare syndrome that involves gastrointestinal stromal tumor (GIST), pulmonary chondroma and extra-adrenal paraganglioma. Patients presenting GIST and pulmonary chondroma account for 72.7% of all incomplete Carney triad cases. Read More

    Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.
    Am J Med Genet C Semin Med Genet 2016 Dec 18;172(4):402-421. Epub 2016 Nov 18.
    The phosphatidylinositol-3-kinase (PI3K)/AKT/mTOR signaling pathway plays an essential role in regulation of normal cell growth, metabolism, and survival. Somatic activating mutations in the PI3K/AKT/mTOR pathway are among the most common mutations identified in cancer, and have been shown to cause a spectrum of overgrowth syndromes including PIK3CA-Related Overgrowth Spectrum, Proteus syndrome, and brain overgrowth conditions. Clinical findings in these disorders may be isolated or multiple, including sporadic or mosaic overgrowth (adipose, skeletal, muscle, brain, vascular, or lymphatic), and skin abnormalities (including epidermal nevi, hyper-, and hypopigmented lesions), and have the potential risk of tumorigenesis. Read More

    Linear trichilemmomas on the ankle of a 28-year-old female.
    J Cutan Pathol 2017 Jan 21;44(1):93-97. Epub 2016 Oct 21.
    Department of Dermatology, Tufts Medical Center, Boston, MA, USA.
    Trichilemmomas are benign cutaneous proliferations derived from the outer root sheath of the hair follicle. They most often occur on the head and neck region and show a female predominance. When multiple, they are associated with Cowden syndrome (CS), a rare disorder due to an autosomal dominant germline mutation in PTEN (phosphatase and tensin homolog on chromosome 10), a tumor suppressor gene. Read More

    Multiple clear cell acanthomas and a sebaceous lymphadenoma presenting in a patient with Cowden syndrome - a case report.
    J Cutan Pathol 2017 Jan 20;44(1):79-82. Epub 2016 Oct 20.
    Department of Pathology & Immunology, Baylor College of Medicine, Houston, TX, USA.
    Cowden syndrome (CS) is an uncommon autosomal dominant multiorgan/system genodermatosis. It is characterized by the development of multiple hamartomas of endodermal, mesodermal and ectodermal origin, an increased lifetime risk of breast, thyroid, endometrial and other cancers and an identifiable germline mutation. Mucocutaneous hamartomas are the most common lesions seen and mainly include facial trichilemmomas, oral mucosal papillomas and benign acral keratoses. Read More

    Multidisciplinary surgical management of Cowden syndrome: Report of a case.
    J Clin Exp Dent 2016 Oct 1;8(4):e472-e474. Epub 2016 Oct 1.
    DDS, Department of Surgical sciences for head and neck diseases, School of dentistry, Catholic University of Sacred Heart, Dean: Prof. Massimo Cordaro, Largo A. Gemelli, 1 - 00168 Rome, Italy.
    Cowden's Syndrome (CS) is a rare congenital autosomal dominant disorder that affects around 1/200000 patients with an incomplete penetrance and variable expressivity, characterized by alterations in a tumor suppressor gene. A 14-year-old Caucasian male patient came to the attention of the authors complaining of palm nodules, gingival bleeding and painful pedunculated lesions on the lips and on the labial side of anterior sextants. After genetic investigation the final diagnosis of a Cowden Syndrome was made. Read More

    Gastrointestinal Polyposis in Cowden Syndrome.
    J Clin Gastroenterol 2017 Aug;51(7):e60-e67
    *Department of Pathology, Soroka Medical Center, Ben-Gurion University of the Negev, Beer Sheva, Israel †Department of Pathology & ARUP Laboratories ∥Department of Internal Medicine ‡Huntsman Cancer Institute §Genetic Counseling ¶Division of Gastroenterology #Division of Epidemiology, University of Utah, Salt Lake City, UT.
    Goals: To further characterize the gastrointestinal manifestations of Cowden syndrome in clinically well-annotated patients to improve the diagnosis of this syndrome.

    Background: The gastrointestinal manifestations of Cowden Syndrome, an important heritable and multiorgan cancer syndrome, are not well defined. Proper diagnosis is essential for effective cancer surveillance and prevention in these patients. Read More

    Lhermitte-Duclos Disease in association with Cowden Syndrome.
    Dermatol Online J 2016 May 15;22(5). Epub 2016 May 15.
    University of Kansas School of Medicine.
    Cowden syndrome (CS) is a rare genetic disorder with autosomal dominant inheritance, linked to germline mutations in the PTEN tumor suppressor gene on chromosome 10. Cowden syndrome often co-exists with Lhermitte-Duclos disease (LDD), with LDD included as a major criterion in CD diagnosis. This case involves a woman presenting with many of the classic diagnostic criterions and associations of CD, as well as with several comorbidities and unique objective findings. Read More

    Overgrowth syndromes with vascular malformations.
    Semin Cutan Med Surg 2016 Sep;35(3):161-9
    Departments of Dermatology and Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.
    This review provides a clinically-oriented summary of the most commonly encountered overgrowth syndromes associated with vascular malformations. This manuscript will outline morphologic features, clinical evaluation and management of this complex group of patients. Recent genetic advances have aided in classification and help to explain overlapping clinical features in many cases. Read More

    Heritable Gastrointestinal Cancer Syndromes.
    Gastroenterol Clin North Am 2016 09;45(3):509-27
    Division of Gastroenterology, Department of Internal Medicine, University of Michigan Health System, 2150A Cancer Center, Ann Arbor, MI 48109, USA. Electronic address:
    Although almost all gastrointestinal cancers develop from sporadic genomic events, approximately 5% arise from germline mutations in genes associated with cancer predisposition. The number of these genes continues to increase. Tumor phenotypes and family history provide the framework for identifying at-risk individuals. Read More

    Lhermitte-Duclos disease with neurofibrillary tangles in heterotopic cerebral grey matter.
    Folia Neuropathol 2016 ;54(2):190-6
    Boleslaw Lach, MD, PhD, Department of Pathology and Molecular Medicine, McMaster University, 237 Barton St. East, L8L 2X2 Hamilton (Ontario), Canada, e-mail:
    Lhermitte-Duclos disease (LDD), a disorder first described by French physicians Lhermitte and Duclos in 1920 [25], is a benign, slow growing dysplastic gangliocytoma of the cerebellum, characterized by replacement of the granule cell layer by abnormal granule and Purkinje like cells. The most frequent presenting signs and symptoms are megalocephaly, increased intracranial pressure, nausea, hydrocephalus, ataxia, gait abnormalities, and intermittent headaches, all of which are attributed to the mass effect [6,11,25]. Many cases are associated with a mutation in the phosphatase and tensin homolog or PTEN gene which is also involved in numerous otherwise unrelated central nervous system abnormalities, namely Cowden syndrome [1,6,11], autism spectrum disorder [18], cerebral cortical dysplasia [11,30] and Bannayan-Riley-Ruvalcaba syndrome [30]. Read More

    Cowden Syndrome Detected by FDG PET/CT in an Endometrial Cancer Patient.
    Nucl Med Mol Imaging 2016 Sep 4;50(3):255-7. Epub 2016 Jun 4.
    Department of Radiology, The Catholic University of Korea, Daejeon Saint Mary's Hospital, 64, Daeheung-ro, Jung-gu, Daejeon, 34943 Republic of Korea.
    Cowden syndrome (CS) is a rare autosomal dominant disorder characterized by multiple hamartomas in various tissues and cancers (breast, thyroid, and endometrium). We report CS of the esophagus and gastrointestinal tract that was incidentally detected by positron emission tomography/computed tomography (PET/CT) at postoperative surveillance in an endometrial cancer patient. PET/CT showed mildly increased FDG uptake along the entire esophagus and stomach. Read More

    Retin Cases Brief Rep 2017 Winter;11 Suppl 1:S151-S154
    *Department of Ophthalmology, Henry Ford Hospital, Detroit, Michigan; and †Retina Consultants of Michigan, Southfield, Michigan.
    Purpose: To report a case of epiretinal membrane and myelinated nerve fiber layer, which preceded the diagnosis of basal cell nevus syndrome, in a young girl.

    Methods: Observational case report.

    Results: A 12-year-old girl was referred for an asymptomatic epiretinal membrane. Read More

    Hidden association of Cowden syndrome, PTEN mutation and meningioma frequency.
    Oncoscience 2016 30;3(5-6):149-55. Epub 2016 Jun 30.
    Translational Neurooncology Laboratory, Department of Neurosurgery, Universitätsklinikum Erlangen, Friedrich-Alexander University (FAU) Erlangen-Nürnberg, Erlangen, Germany; BiMECON Ent., Berlin, Germany.
    Cowden syndrome (CS) is clinically presented by multiple hamartomas, often with mucocutaneous lesions, goiter, breast cancer and gastrointestinal polyps. CS is a genetic disorder of autosomal dominant inheritance and is one distinct syndrome of the phosphatase and tensin homolog on chromosome 10 (PTEN) hamartoma tumor spectrum. Noteworthy, PTEN germline mutations are related to a wide range of brain tumors. Read More

    Multi-organ benign and malignant tumors: recognizing Cowden syndrome: a case report and review of the literature.
    BMC Res Notes 2016 Aug 4;9:388. Epub 2016 Aug 4.
    Radiology, University of the West Indies, St. Augustine, Trinidad & Tobago.
    Background: Cowden syndrome is an autosomal dominant disorder with a predisposition to multiple benign and malignant tumors. In our patient, in addition to breast and endometrial malignancies as well as facial trichilemmomas, she was noted to have multiple meningiomas, pancreatic lipomas and lung cysts. These latter lesions have been noted in previous Cowden syndrome case reports, but are not included in the diagnostic criteria at this time. Read More

    Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.
    J Allergy Clin Immunol 2017 Feb 18;139(2):607-620.e15. Epub 2016 Jun 18.
    Translational Gastroenterology Unit, University of Oxford, Oxford, United Kingdom; Department of Pediatrics, University of Oxford, Oxford, United Kingdom. Electronic address:
    Background: Patients with heterozygous germline mutations in phosphatase and tensin homolog deleted on chromosome 10 (PTEN) experience autoimmunity and lymphoid hyperplasia.

    Objectives: Because regulation of the phosphoinositide 3-kinase (PI3K) pathway is critical for maintaining regulatory T (Treg) cell functions, we investigate Treg cells in patients with heterozygous germline PTEN mutations (PTEN hamartoma tumor syndrome [PHTS]).

    Methods: Patients with PHTS were assessed for immunologic conditions, lymphocyte subsets, forkhead box P3 (FOXP3)(+) Treg cell levels, and phenotype. Read More

    Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy.
    Am J Hum Genet 2016 Aug 21;99(2):423-9. Epub 2016 Jul 21.
    Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA; Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA. Electronic address:
    Hypothalamic hamartoma (HH) with gelastic epilepsy is a well-recognized drug-resistant epilepsy syndrome of early life.(1) Surgical resection allows limited access to the small deep-seated lesions that cause the disease. Here, we report the results of a search for somatic mutations in paired hamartoma- and leukocyte-derived DNA samples from 38 individuals which we conducted by using whole-exome sequencing (WES), chromosomal microarray (CMA), and targeted resequencing (TRS) of candidate genes. Read More

    Early Recognition of Proteus Syndrome.
    Pediatr Dermatol 2016 Sep 4;33(5):e306-10. Epub 2016 Jul 4.
    Division of Dermatology, Augusta University, Augusta, Georgia.
    Proteus syndrome is an extremely rare mosaic condition characterized by progressive overgrowth of tissues due to a somatic activating mutation of the AKT1 gene. Distinct cutaneous features, including cerebriform connective tissue nevi, epidermal nevi, vascular malformations, and adipose abnormalities, can alert the dermatologist to the underlying condition before the onset of asymmetric skeletal overgrowth. We present a series of photographs documenting the skin and musculoskeletal changes in a patient with Proteus syndrome over the first 2 years of life to emphasize the key signs that a dermatologist can recognize to facilitate an earlier diagnosis in these patients. Read More

    Assessment of PTEN-associated vascular malformations in a patient with Bannayan-Riley-Ruvalcaba syndrome.
    BMJ Case Rep 2016 Jun 29;2016. Epub 2016 Jun 29.
    Clinic for Angiology, University Hospital Zurich, Zurich, Switzerland.
    Misdiagnosis of phosphatase and tensin homologue hamartoma syndromes is common. Correct diagnosis has a relevant impact on patients, as the risk of malignancies is high and treatment options are limited. We report the case of a 24-year-old man who presented with symptomatic vascular intramuscular lesions of the left forearm and right calf, macrocephaly, post Hashimoto thyroiditis, a multicystic intracranial paratrigonal lesion, lentiginous hyperpigmented maculae on the foreskin and multiple skin lesions. Read More

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