Search our Database of Scientific Publications and Authors

I’m looking for a

    1719 results match your criteria Cowden Disease Multiple Hamartoma Syndrome

    1 OF 35

    Identification of a PTEN mutation with reduced protein stability, phosphatase activity, and nuclear localization in Hong Kong patients with autistic features, neurodevelopmental delays, and macrocephaly.
    Autism Res 2018 Apr 2. Epub 2018 Apr 2.
    School of Biomedical Sciences, Lo Kwee-Seong Integrated Biomedical Sciences Building, The Chinese University of Hong Kong, Hong Kong, SAR, China.
    PTEN is a tumor suppressor gene inactivated in over 30% of human cancers. It encodes a lipid phosphatase that serves as a gatekeeper of the phosphoinositide 3-kinase signaling pathway. Germline mutation frequently occurs in this gene in patients diagnosed with PTEN Hamartoma Tumor Syndrome (PHTS). Read More

    Basaloid Follicular Hamartoma: A Case Report and a Novel Cosmetic Treatment.
    J Clin Aesthet Dermatol 2018 Mar 1;11(3):39-41. Epub 2018 Mar 1.
    Dr. Segars is with NSU-COM/Largo Medical Center Dermatology Residency in Largo, Florida.
    Basaloid follicular hamartoma (BFH) is a rare, benign neoplasm of the hair follicle, characterized by multiple brown papules involving the face, scalp, and trunk. It is described by multiple clinical forms, and can present as localized or generalized. Diagnosis is made histologically via biopsy, which is important in order to distinguish BFH from basal cell carcinoma (BCC) or other malignant epithelial neoplasms. Read More

    PTEN Mutation Identified in Patient Diagnosed with Simultaneous Multiple Cancers.
    Cancer Res Treat 2018 Feb 27. Epub 2018 Feb 27.
    Department of Surgery, Uijeongbu St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Uijeongbu, Korea.
    PTEN hamartoma tumor syndrome is a spectrum of disorders characterized by unique phenotypic features including multiple hamartomas caused by mutations of the tumor suppressor gene PTEN. Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome are representative diseases, and both have several common clinical features and differences. Because PTEN mutations are associated with an increased risk of malignancy including breast, thyroid, endometrial, and renal cancers, cancer surveillance is an important element of disease management. Read More

    Novel Germline Mutation Associated with Cowden Syndrome and Osteosarcoma.
    Cancer Genomics Proteomics 2018 Mar-Apr;15(2):115-120
    Department of Anatomic Pathology, Moffitt Cancer Center, Tampa, FL, U.S.A.
    Background: Cowden syndrome (CS) is a rare autosomal-dominant inherited disorder characterized by multiple hamartomas. While the hamartomas are benign, patients with CS have increased risk of osteosarcoma and of breast, thyroid, endometrial, soft-tissue and colonic neoplasms. Germline mutations of phosphatase and tensin homolog (PTEN) are implicated in CS and in the development of osteosarcoma. Read More

    INTU-related oral-facial-digital syndrome type VI: A confirmatory report.
    Clin Genet 2018 Feb 16. Epub 2018 Feb 16.
    Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.
    Oral-facial-digital (OFD) syndromes are a subgroup of ciliopathies distinguished by the co-occurrence of hamartomas and/or multiple frenula of the oral region and digital anomalies. Several clinical forms of OFD syndromes are distinguished by their associated anomalies and/or inheritance patterns, and at least 20 genetic types of OFD syndromes have been delineated. We describe here a child with preaxial and postaxial polydactyly, lingual hamartoma, a congenital heart defect, delayed development and cerebellar peduncles displaying the molar tooth sign. Read More

    Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS).
    Anticancer Res 2018 01;38(1):471-476
    Dermatology Unit, Surgical, Medical and Dental Department of Morphological Sciences related to Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, Italy.
    Background/aim: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominantly inherited disorder characterized by multiple basal cell carcinomas (BCC), odontogenic tumors and various skeletal anomalies. Basaloid follicular hamartomas (BFHs) constitute rare neoplasms that can be detected in sporadic and familial settings as in the Basaloid Follicular Hamartoma Syndrome (BFHS). Although BFHS shares clinical, histopathological and genetic overlapping with the NBCCS, they are still considered two distinctive entities. Read More

    Pathology and genetics of hereditary colorectal cancer.
    Pathology 2018 Jan 21;50(1):49-59. Epub 2017 Nov 21.
    Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, MD, United States.
    Colorectal cancer (CRC) accounts for over 8% of all deaths annually worldwide. Between 2 and 5% of all CRCs occur due to inherited syndromes, including Lynch syndrome, familial adenomatous polyposis, MUTYH-associated polyposis, Peutz-Jeghers syndrome, juvenile polyposis and Cowden/PTEN hamartoma syndrome. In addition, serrated polyposis is a clinically defined condition characterised by multiple colorectal serrated polyps and an increased risk of CRC but the genetics are not known. Read More

    Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome.
    Turk J Pediatr 2017 ;59(1):80-83
    Divisions of Pediatric Gastroenterology, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
    Hızarcıoğlu-Gülşen H, Kılıç E, Dominguez-Garrido E, Aydemir Y, Utine GE, Saltık-Temizel İN. Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome. Turk J Pediatr 2017; 59: 80-83. Read More

    Proteus syndrome.
    An Bras Dermatol 2017 Sep-Oct;92(5):717-720
    Department of Dermatology at Hospital Regional de Presidente Prudente - Universidade do Oeste Paulista (UNOESTE) - Presidente Prudente (SP), Brazil.
    Proteus syndrome is a rare syndrome characterized by disproportionate overgrowth of limbs, multiple hamartomas, and vascular malformations. The cerebriform connective tissue nevi, also called cerebriform plantar hyperplasia, are present in most patients, and is the main characteristic of the syndrome. If present, even alone, they can be considered as a pathognomonic sign. Read More

    Familial Pallister-Hall in adulthood.
    Neuro Endocrinol Lett 2017 Oct;38(5):329-331
    Endocrinology, Metabolism and Diabetes, Department of Medicine, College of Medicine and Department of Neurosurgery, University of Oklahoma Health Sciences Center; Arthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation; US Department of Veterans Affairs Medical Center, Oklahoma City, OK, USA.
    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

    Gene of the month: SDH.
    J Clin Pathol 2018 Feb 25;71(2):95-97. Epub 2017 Oct 25.
    Division of Anatomical Pathology, Faculty of Health Sciences, University of Cape Town and National Health Laboratory Service - Groote Schuur hospital, Cape Town, South Africa.
    Succinate dehydrogenase (SDH) is a heterotetrameric nuclear encoded mitochondrial protein complex which plays a role in the citric acid cycle and the electron transfer chain. Germline mutations in are associated with Leigh syndrome. Mutations in , and are found in an increasing number of neoplasms, most notably paragangliomas and wild-type gastrointestinal stromal tumours. 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 Dec;153(12):1298-1301
    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

    Characterization of thrombosis in patients with Proteus syndrome.
    Am J Med Genet A 2017 Sep 19;173(9):2359-2365. Epub 2017 Jun 19.
    Medical Genomics Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
    Patients with overgrowth and complex vascular malformation syndromes, including Proteus syndrome have an increased risk of thromboembolism. Proteus syndrome is a mosaic, progressive overgrowth disorder involving vasculature, skin, and skeleton, and caused by a somatic activating mutation in AKT1. We conducted a comprehensive review of the medical histories and hematologic evaluations of 57 patients with Proteus syndrome to identify potential risk factors for thrombosis. 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

    , 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.
    hamartoma tumor syndrome (PHTS), 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

    A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children.
    J Med Genet 2017 Jul 19;54(7):471-478. Epub 2017 May 19.
    Center for Molecular and Human Genetics, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.
    Objective: It is recognised that 5% - 10 % of children with macrocephaly and autism spectrum disorder (ASD) and/or intellectual disability (ID) have a heterozygous pathogenic mutation in the tumour suppressor gene that is associated with PTEN hamartoma tumour syndrome. However, the clinical features and course in children with a pathogenic mutation are unclear and have not been well documented.

    Study Objectives: We undertook a retrospective chart review of children (< 18  years) with pathogenic mutations to ascertain clinical findings, clinical course and possible outcomes. Read More

    Insertion of Alu elements at a PTEN hotspot in Cowden syndrome.
    Eur J Hum Genet 2017 09 17;25(9):1087-1091. Epub 2017 May 17.
    Cancer Genetics Unit, Institut Bergonié, Bordeaux, France.
    Cowden syndrome (CS) is an inherited autosomal dominant disorder associated with germline pathogenic variants of the PTEN tumor suppressor gene. Its phenotypical expression is highly variable and the existence of patients with a CS suggestive phenotype without pathogenic PTEN variant may be related to genetic heterogeneity. In order to explore this hypothesis through the detection of potentially deleterious variants enabling us to identify a new candidate gene, we performed whole-exome sequencing (WES) in a series of 22 CS patients without detectable PTEN pathogenic variant using conventional methods for mutation screening. Read More

    Molecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.
    J Mol Diagn 2017 Jul 11;19(4):613-624. Epub 2017 May 11.
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas. Electronic address:
    Recent studies have discovered a group of overgrowth syndromes, such as congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies (CLOVES) syndrome, Proteus syndrome, and megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome, are caused by somatic activating variants in genes involved in the phosphatidylinositol 3-kinase/AKT/mechanistic target of rapamycin pathway. Because of the low-abundance nature of these variants, Sanger sequencing often yields negative results. We have developed and validated a next-generation sequencing (NGS) panel that targets all known variants associated with these syndromes. Read More

    Genetic and epigenetic profiling of a solitary Peutz-Jeghers colon polyp.
    Cold Spring Harb Mol Case Stud 2017 May;3(3):a001610
    Division of Epigenetics, DKFZ-ZMBH Alliance, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
    Colon polyps represent precursor lesions of colon cancers and their malignant potential varies according to histological subtype. A rare subtype of colon polyps is the Peutz-Jeghers (PJ) polyp. PJ polyps mostly occur in the context of Peutz-Jeghers syndrome, which is characterized by the development of multiple polyps in the intestinal tract and hyperpigmentation of oral mucosa and lips. 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

    Current and future role of genetic screening in gynecologic malignancies.
    Am J Obstet Gynecol 2017 11 12;217(5):512-521. Epub 2017 Apr 12.
    Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, University of Virginia Health System, Charlottesville, VA.
    The world of hereditary cancers has seen exponential growth in recent years. While hereditary breast and ovarian cancer and Lynch syndrome account for the majority of mutations encountered by gynecologists, newly identified deleterious genetic mutations continue to be unearthed with their associated risks of malignancies. However, these advances in genetic cancer predispositions then force practitioners and their patients to confront the uncertainties of these less commonly identified mutations and the fact that there is limited evidence to guide them in expected cancer risk and appropriate risk-reduction strategies. Read More

    Cowden syndrome: 
Oral presentations of a paraneoplastic syndrome. 
Case report and review of the literature.
    Quintessence Int 2017 ;48(5):413-418
    Cowden syndrome is an autosomal dominant disorder with a predisposition to multiple benign and malignant tumors with unique oral manifestations. We present a case of Cowden syndrome in a patient diagnosed with breast cancer, traumatic fibromas, bronchial asthma, and multiple papillomatous fibromatosis of the oral cavity. Close association between oral papillomatosis associated with Cowden syndrome and PTEN gene mutation may increase the risk for malignant transformation. 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 08 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

    Prevalence of four Mendelian disorders associated with autism in 2392 affected families.
    J Hum Genet 2017 Jun 9;62(6):657-659. Epub 2017 Mar 9.
    Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada.
    Autism spectrum disorder (ASD) is a neurobehavioral disorder with a heterogeneous genetic etiology. Based on the literature, several single-gene disorders, including Rett syndrome, Smith-Lemli-Opitz syndrome, PTEN hamartoma tumor syndrome and tuberous sclerosis, are associated with a high prevalence of ASD. We estimated the prevalence of these four conditions in a large cohort of patients using whole-exome sequencing data from 2392 families (1800 quads and 592 trios) with ASD from the National Database for Autism Research. Read More

    Multiple nonsyndromic acquired basal cell carcinomas : Uncommon clinical presentation in a Bulgarian patient.
    Wien Med Wochenschr 2017 Apr 20;167(5-6):134-138. Epub 2017 Feb 20.
    Department of Dermatology and Allergology, Academic Teaching Hospital Dresden-Friedrichstadt, Friedrichstrasse 41, 01067, Dresden, Germany.
    Basal cell carcinoma is the most frequent cutaneous neoplasm, with slowly progressive nature and locally invasive behavior. Despite the low metastatic potential, local tissue destruction and disfigurement caused by the tumor can be large if not eradicated in time by early diagnosis and treatment. Both genetic predisposition and exposure to environmental risks are involved in the pathogenesis of the malignant transformation in BCC. 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 04;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 01;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

    Infantile Lhermitte-Duclos Disease Treated Successfully With Rapamycin.
    J Child Neurol 2017 03 8;32(3):322-326. Epub 2016 Dec 8.
    2 Department of Child Neurology, University of South Alabama Children's and Women's Hospital, Mobile, AL.
    Lhermitte-Duclos disease is a rare hamartomatous tumor of the cerebellum resulting from a mutation in the phosphatase and tensin homolog (PTEN) gene: it has been reported in fewer than 10 infants. Rapamycin treatment has not yet been described in Lhermitte-Duclos disease. The infant underwent shunt placement shortly after birth for aqueductal stenosis. Read More

    Exome sequencing reveals germline gain-of-function mutation in an adult with Lhermitte-Duclos disease.
    Cold Spring Harb Mol Case Stud 2016 Nov;2(6):a001230
    Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA;; Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA;; Taussig Cancer Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA;; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA;; CASE Comprehensive Cancer Center, Case Western Reserve University, Cleveland, Ohio 44106, USA;; Germline High Risk Focus Group, CASE Comprehensive Cancer Center, Case Western Reserve University, Cleveland, Ohio 44106, USA.
    Lhermitte-Duclos disease (LDD) is a rare cerebellar disorder believed to be pathognomonic for Cowden syndrome. Presently, the only known etiology is germline mutation. We report a 41-yr-old white female diagnosed with LDD and wild-type for . 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

    1 OF 35