1,803 results match your criteria Cowden Disease Multiple Hamartoma Syndrome


Follicular thyroid carcinoma metastatic to skin: a small papule and a big diagnostic change.

An Bras Dermatol 2019 Jan-Feb;94(1):76-78

Department of Pathology, Laboratório Bacchi, Botucatu (SP), Brazil.

Cutaneous metastases are uncommon in daily practice, although very important, since they may be the first manifestation of an undiscovered primary neoplasm or the first indication of recurrence. Cutaneous metastases from the breast are the most frequent in women and cutaneous metastases from the lung are the most frequent in men. Thyroid carcinoma, despite representing the most frequent endocrine neoplasm, is considered a rare neoplasm, corresponding to 1% of malignant neoplasms diagnosed. Read More

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http://dx.doi.org/10.1590/abd1806-4841.20198299DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6360978PMC
February 2019
13 Reads

[Histopathological study of basaloid follicular hamartoma].

Ann Dermatol Venereol 2019 Mar 26;146(3):181-191. Epub 2019 Jan 26.

Clinique dermatologique, université de Strasbourg, hôpitaux universitaires de Strasbourg, 1, place de l'Hôpital, 67091 Strasbourg cedex, France.

Introduction: Basaloid follicular hamartoma (BFH) is a rare tumor first described in 1985. It bears clinical and histologic similarities with basal cell carcinoma (BCC), in particular the so-called infundibulocystic form. We performed a single-center clinicopathological study of a series of typical cases of this entity that is occasionally difficult to diagnose. Read More

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http://dx.doi.org/10.1016/j.annder.2018.12.007DOI Listing
March 2019
2 Reads

Endometrial Endometrioid Carcinoma With Ovarian Metastasis Showing Morula-like Features in a Patient With Cowden Syndrome: A Case Report.

Int J Gynecol Pathol 2019 Jan 22. Epub 2019 Jan 22.

Departments of Gynecology (I.K., K.Tate, K. Takahashi, T.K.) Pathology and Clinical Laboratories (H.Y.), National Cancer Center Hospital, Tokyo, Japan.

Cowden syndrome (CS) is a multiple hamartoma syndrome associated with the development of various tumors, including endometrial cancer. However, the histology of CS-associated endometrial cancer remains to be fully described. To our knowledge, this is the first report of a patient with CS having endometrial endometrioid carcinoma with ovarian metastasis demonstrating morula-like features. Read More

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http://dx.doi.org/10.1097/PGP.0000000000000576DOI Listing
January 2019
10 Reads

[Diagnosis and treatment for 46 cases of Peutz-Jeghers syndrome].

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2018 Dec;43(12):1323-1327

Department of Gastroenterology, the Seventh Medical Center of PLA General Hospital, Beijing 100700, China.

Objective: To explore the clinical features, pathological features, gene test results, diagnosis, treatment and prognosis of Peutz-Jeghers syndrome(PJS).
 Methods: We retrospectively analyzed clinical data of 46 hospitalized cases of PJS during 2007 and 2017.
 Results: All 46 patients had mucocutaneous melanin pigmentation and multiple gastrointestinal polyposis. Read More

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http://www.csumed.org/xbwk/CN/10.11817/j.issn.1672-7347.2018
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http://dx.doi.org/10.11817/j.issn.1672-7347.2018.12.007DOI Listing
December 2018
15 Reads

[The 467th case: proteinuria, periungual fibromas, and facial steatadenomas].

Zhonghua Nei Ke Za Zhi 2019 Jan;58(1):74-77

Department of Nephrology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing 100730, China.

A 22-year-old manpresented as a refractory nephrotic syndrome with edema and proteinuria for more than one year. Physical examination revealed facial steatadenomas and periungual fibromas. Images were characterized by hamartomatous lesions in multiple organs, including the central nervous system, heart, lungs, liver, and kidneys. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0578-1426.2019.01.014DOI Listing
January 2019
2 Reads

PTEN Hamartoma Tumor Syndrome and Immune Dysregulation.

Transl Oncol 2019 Feb 30;12(2):361-367. Epub 2018 Nov 30.

Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525, GA, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 28, 6525, GA, Nijmegen, The Netherlands. Electronic address:

Carriers of a pathogenic germline mutations in the PTEN gene, a well-known tumor suppressor gene, are at increased risk of multiple benign and malignant tumors, e.g. breast, thyroid, endometrial and colon cancer. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S19365233183047
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http://dx.doi.org/10.1016/j.tranon.2018.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277246PMC
February 2019
43 Reads

Concomitant fibrofolliculoma and trichodiscoma on the abdomen.

Cutis 2018 Oct;102(4):E30-E32

Department of Dermatology, Harbor-UCLA Medical Center, Torrance, California, USA.

Fibrofolliculoma and trichodiscoma are adnexal tumors that arise from or around hair follicles and are two of the many characteristic features of Birt-Hogg-Dubé (BHD) syndrome. Fibrofolliculoma and other hair follicle hamartomas can be differentiated from their clinically indistinct counterparts (eg, trichodiscomas, trichoadenomas) by histologic and staining comparison. We report a rare case of a 54-year-old man who presented with a subcutaneous papule on the abdomen that was histologically proven to have features of both a solitary fibrofolliculoma and trichodiscoma. Read More

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October 2018
7 Reads

Pallister-Hall syndrome with orofacial narrowing and tethered cord: a case report.

Authors:
Femia Hayek

J Med Case Rep 2018 Nov 29;12(1):354. Epub 2018 Nov 29.

Department of Pediatrics, Rafic Hariri University Hospital, Bir-Hassan, Jinah, Beirut, Lebanon.

Background: Pallister-Hall syndrome is a rare, autosomal dominant, genetic disorder characterized by different congenital abnormalities: hypothalamic hamartoblastoma, bifid or shortened epiglottis, polydactyly, renal anomalies, and imperforate anus.

Case Presentation: In this case report, we describe the case of a 13-year-old Lebanese-Armenian boy born with Pallister-Hall syndrome showing newly associated manifestations (orofacial narrowing and tethered cord), and currently showing a spontaneous puberty with normal growth pattern following management with growth hormones.

Conclusions: This case report shows a practical approach to this very rare syndrome, mainly with testosterone and growth hormones, and its follow-up in the long term. Read More

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https://jmedicalcasereports.biomedcentral.com/articles/10.11
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http://dx.doi.org/10.1186/s13256-018-1868-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6262955PMC
November 2018
19 Reads

A family with PTEN mutations with malignancy and an unusually high number of offspring with autism spectrum disorder: a case report.

J Med Case Rep 2018 Nov 28;12(1):353. Epub 2018 Nov 28.

Institute of Cardiovascular Research, Royal Holloway, University of London, Egham, Surrey, TW20 0EX, UK.

Background: Cowden's syndrome (OMIM:158350), a rare genetic disorder (incidence ~ 1:250,000), is caused by mutations of the tumor suppressor gene PTEN. In this report, we describe clinical manifestations of a 56-year-old patient diagnosed with Cowden's syndrome and his family with PTEN mutations. The family has an unusually high number of offspring with autism spectrum disorder. Read More

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http://dx.doi.org/10.1186/s13256-018-1863-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6260738PMC
November 2018
2 Reads

Familial Angiofibrohistiocytic Hamartoma Syndrome.

Skinmed 2018 9;16(5):347-349. Epub 2018 Nov 9.

University of South Florida Morsani College of Medicine, FL.

A 27-year-old Hispanic man presented with multiple papules and nodules measuring up to 10 cm in diameter. These lesions were widespread (Figure 1), but not on mucosal epithelium. At birth, the patient had had multiple hypopigmented macules that had progressed to papules and nodules over time. Read More

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November 2018

Updated Imaging Features of Dysplastic Cerebellar Gangliocytoma.

J Comput Assist Tomogr 2019 Mar/Apr;43(2):277-281

Division of Neuroradiology, Department of Radiology, Mayo Clinic, Phoenix, AZ.

Objective: The aim of this study was to perform an updated review of the imaging features of dysplastic cerebellar gangliocytoma (DCG).

Methods: Imaging findings were retrospectively reviewed in 14 patients with DCG. The analysis included size, location, cyst formation, calcification, intralesional hemorrhage, enhancement pattern, and apparent diffusion coefficient (ADC). Read More

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http://Insights.ovid.com/crossref?an=00004728-900000000-9917
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http://dx.doi.org/10.1097/RCT.0000000000000814DOI Listing
April 2019
14 Reads

Clinical Perspective on Dysplastic Gangliocytoma of the Cerebellum (Lhermitte-Duclos Disease).

World Neurosurg 2019 Feb 23;122:16-23. Epub 2018 Oct 23.

Department of Neurosurgery, Beijing Tiantan Hospital affiliated to Capital Medical University, Beijing, China; National Clinical Research Center for Neurological Diseases, Center of Brain Tumor, Beijing Institute for Brain Disorders and Beijing Key Laboratory of Brian Tumor, Beijing, China. Electronic address:

Background: Dysplastic gangliocytoma of the cerebellum, also called Lhermitte-Duclos disease (LDD), is known as a rare, benign brain tumor. Around 200 cases have been reported.

Case Description: Here we introduced a newly diagnosed adult case with intratumoral hemorrhage. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S18788750183238
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http://dx.doi.org/10.1016/j.wneu.2018.10.085DOI Listing
February 2019
14 Reads
2.420 Impact Factor

Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T>A]+[=]"; "p.[Leu1956Gln]+[=]" Missense Mutation and Complex Skin Hamartoma.

Int J Mol Sci 2018 Oct 16;19(10). Epub 2018 Oct 16.

Pediatric Clinic, Department of Surgical and Biomedical Sciences, Università degli Studi di Perugia, Piazza Menghini 1, 06129 Perugia, Italy.

Sotos syndrome is one of the most common overgrowth diseases and it predisposes patients to cancer, generally in childhood. The prevalence of this genetic disorder is 1:10,000⁻1:50,000, and it is characterized by wide allelic heterogeneity, with more than 100 different known mutations in the nuclear receptor-binding SET domain containing protein 1 () gene. Most of these alterations are deletions and common micro-deletions with haploinsufficiency. Read More

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http://www.mdpi.com/1422-0067/19/10/3189
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http://dx.doi.org/10.3390/ijms19103189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6213993PMC
October 2018
6 Reads

Spinal Extradural Arteriovenous Fistula with Cowden Syndrome: A Case Report and Literature Review Regarding Pathogenesis and Therapeutic Strategy.

NMC Case Rep J 2018 Oct 13;5(4):83-85. Epub 2018 Sep 13.

Department of Neurosurgery, Jikei University School of Medicine, Tokyo, Japan.

We report the case of a patient with a spinal extradural arteriovenous fistula (AVF) associated with Cowden syndrome (CS) that was successfully treated by endovascular surgery. CS is an autosomal dominant disorder associated with diverse symptoms caused by a deleterious mutation in the phosphatase and tensin homolog () gene. A 67-year-old woman was diagnosed with CS based on her medical history of multiple cancers for which she underwent abdominal surgery, macrocephaly, Lhermitte-Duclos disease, and facial papules. Read More

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https://www.jstage.jst.go.jp/article/nmccrj/5/4/5_cr.2018-00
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http://dx.doi.org/10.2176/nmccrj.cr.2018-0018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6187262PMC
October 2018
20 Reads

Lhermitte-Duclos Disease in a Six-Year Old Child: A Rare Presentation.

Pediatr Neurosurg 2018 10;53(6):416-420. Epub 2018 Oct 10.

Department of Neurosurgery, Gulhane Training and Research Hospital, University of Health Sciences, Ankara, Turkey.

Lhermitte-Duclos disease (LDD) is a rare, slow-growing, benign lesion of the cerebellum. It is often seen in the second and fourth decades. This disease is extremely rare in childhood. Read More

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https://www.karger.com/Article/FullText/493014
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http://dx.doi.org/10.1159/000493014DOI Listing
January 2019
21 Reads

Long-term efficacy of combination vismodegib and photodynamic therapy for multiple basal cell carcinomas.

Photodiagnosis Photodyn Ther 2018 12 3;24:164-165. Epub 2018 Oct 3.

University of Arizona, College of Medicine, Tucson, AZ, United States; University of Arizona, Department of Medicine, Division of Dermatology, Tucson, AZ, United States.

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https://linkinghub.elsevier.com/retrieve/pii/S15721000183026
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http://dx.doi.org/10.1016/j.pdpdt.2018.09.016DOI Listing
December 2018
2 Reads

CyberKnife® Radiosurgery as First-line Treatment for Catastrophic Epilepsy Caused by Hypothalamic Hamartoma.

Cureus 2018 Jul 12;10(7):e2968. Epub 2018 Jul 12.

Cyberknife Center, Centro diagnostico italiano, Milano, ITA.

Hypothalamic hamartomas (HH) are deep-seated lesions often associated with catastrophic epilepsy (an epileptic syndrome characterized by severe, drug-refractory seizures eventually leading to mental retardation and death). Radical microsurgical resection is not feasible for lesions located within the wall of the third ventricle inside the hypothalamus. Frame-based stereotactic radiosurgery has been reported as an effective treatment modality for small- to medium-size intrahypothalamic hamartomas, providing excellent seizure outcomes without lasting complications. Read More

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https://www.cureus.com/articles/10628-cyberknife-radiosurger
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http://dx.doi.org/10.7759/cureus.2968DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6136885PMC
July 2018
22 Reads

Use of vismodegib for the treatment of multiple basal cell carcinomas in a patient with xeroderma pigmentosum.

Pediatr Dermatol 2018 Nov 3;35(6):e334-e336. Epub 2018 Sep 3.

1st University Department of Dermatology - Venereology, "Andreas Sygros" Hospital, National and Kapodistrian University of Athens Medical School, Athens, Greece.

A female patient with xeroderma pigmentosum and multiple basal cell carcinomas was treated with a hedgehog pathway inhibitor (vismodegib), which successfully treated the majority of her basal cell carcinomas while preventing the appearance of new lesions. The sum diameter of lesions showed a 61% decrease after 16.5 months of treatment, although after 18. Read More

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http://dx.doi.org/10.1111/pde.13610DOI Listing
November 2018
1 Read

Increased 18F-FDG Uptake in Lhermitte-Duclos Disease With Cowden Syndrome Revealed by PET-MRI.

Clin Nucl Med 2018 Oct;43(10):e355-e356

From the Departments of Nuclear Medicine, and.

A 62-year-old woman, with the history of breast and colorectal cancer, presented intermittent diplopia. A cerebellar lesion was revealed by F-FDG PET-MRI without post-gadolinium enhancement, but with increased perfusion and strong F-FDG uptake. The diagnosis of Cowden syndrome with PTEN gene mutation, linked to higher risk of neoplasia and occurrence of hamartomatous lesions characteristic of the Lhermitte-Duclos disease (LDD), was confirmed by genetic investigation. Read More

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http://dx.doi.org/10.1097/RLU.0000000000002248DOI Listing
October 2018
9 Reads

Must Peutz-Jeghers syndrome patients have the gene mutation? A case report and review of the literature.

World J Clin Cases 2018 Aug;6(8):224-232

Department of General Surgery, Air Force General Hospital of Chinese PLA, Beijing 100142, China.

Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disease, which is characterized by mucocutaneous pigmentation and multiple gastrointestinal hamartoma polyps. The germline mutation of gene on chromosome 19p13.3 is considered to be the hereditary cause of PJS. Read More

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http://dx.doi.org/10.12998/wjcc.v6.i8.224DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6107527PMC
August 2018
3 Reads

Cowden Syndrome: A Cause of Pulmonary Cysts.

J Thorac Imaging 2018 Nov;33(6):W48-W50

Mayo Clinic, Rochester, MN.

Objective: To describe the pulmonary imaging findings in patients with Cowden syndrome (CS).

Materials And Methods: A retrospective review identified all patients with CS who underwent dedicated computed tomography examinations of the chest at our institution between January 2000 and October 2017. Patient demographics and imaging characteristics were identified through a review of the electronic medical record and relevant imaging. Read More

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http://dx.doi.org/10.1097/RTI.0000000000000358DOI Listing
November 2018
4 Reads

Severe gynaecological involvement in Proteus Syndrome.

Eur J Med Genet 2019 Apr 10;62(4):270-272. Epub 2018 Aug 10.

Department of Dermatology, Reference Centre for Rare Skin Diseases, CHU Larrey, Paul Sabatier University, Toulouse, France.

Proteus Syndrome is a rare complex overgrowth syndrome. We report a young female patient with Proteus Syndrome due to AKT1 mutation c.49G > A (p. Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.08.003DOI Listing
April 2019
32 Reads

Characteristics of multiple basal cell carcinomas: The first study on Japanese patients.

J Dermatol 2018 Oct 23;45(10):1187-1190. Epub 2018 Jul 23.

Department of Dermatology, Faculty of Medicine, Tottori University, Yonago, Japan.

Basal cell carcinoma (BCC), the most frequent skin cancer, has been increasing in incidence. However, the characteristics of multiple BCC have not been clarified in Japan. Therefore, we conducted a retrospective study to elucidate the features of multiple BCC compared with solitary BCC. Read More

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http://dx.doi.org/10.1111/1346-8138.14576DOI Listing
October 2018
2 Reads

Epidermal Nevi and Related Syndromes -- Part 1: Keratinocytic Nevi.

Actas Dermosifiliogr 2018 Oct 6;109(8):677-686. Epub 2018 Jul 6.

Servicio de Dermatología, Hospital de Manacor, Mallorca, Islas Baleares, España.

Epidermal nevi are hamartomatous lesions derived from the epidermis and/or adnexal structures of the skin; they have traditionally been classified according to their morphology. New variants have been described in recent years and advances in genetics have contributed to better characterization of these lesions and an improved understanding of their relationship with certain extracutaneous manifestations. In the first part of this review article, we will look at nevi derived specifically from the epidermis and associated syndromes. Read More

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http://dx.doi.org/10.1016/j.ad.2018.05.005DOI Listing
October 2018
4 Reads

Childhood Lhermitte-Duclos Disease Progressing to Medulloblastoma in Bilateral Cerebellar Hemispheres: Report of Unusual Case.

World Neurosurg 2018 Sep 30;117:344-349. Epub 2018 Jun 30.

Department of Neuro-Surgery, Govind Ballabh Pant Institute of Postgraduate Medical Education and Research, New Delhi, India.

Background: Lhermitte-Duclos disease is an extremely rare pathologic entity characterized by a cerebellar mass composed of enlarged cerebellar folia containing abnormal ganglion cells. This entity usually presents in young and middle-aged adults and rarely in children. There is no study in the literature analyzing the long-term clinical course of this disease to assess the behavior primarily because of its rarity. Read More

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http://dx.doi.org/10.1016/j.wneu.2018.06.161DOI Listing
September 2018
19 Reads
2.420 Impact Factor

Gastrointestinal: Multiple venous malformations and polyps of the small intestine in Cowden syndrome.

J Gastroenterol Hepatol 2018 Nov 27;33(11):1819. Epub 2018 Jun 27.

Kyushu University, Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Fukuoka, Japan.

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http://dx.doi.org/10.1111/jgh.14304DOI Listing
November 2018
1 Read

Cowden Syndrome Associated with Severe Periodontal Disease: A Short Literature Review and a Case Report.

Oral Health Prev Dent 2018;16(3):225-232

Purpose: The aim of this literature review and case report was to point out the relationship between Cowden Syndrome (CS) and severe periodontitis. CS is a rare autosomal dominant disorder characterised by skin and oral hamartomas, and is associated with an increased risk of cancer development.

Case Report: The case of a 43-year old male patient affected by Cowden syndrome and presenting severe periodontitis was reported. Read More

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http://dx.doi.org/10.3290/j.ohpd.a40673DOI Listing
October 2018
3 Reads

Cowden syndrome and pituitary tumours.

QJM 2018 Oct;111(10):735-736

Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

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http://dx.doi.org/10.1093/qjmed/hcy133DOI Listing
October 2018
9 Reads

Myths and Misdiagnoses of Proteus Syndrome.

Asian J Anesthesiol 2018 03;56(1):41-41

National Human Genome Research Institute, Bethesda, MD, USA.

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http://dx.doi.org/10.6859/aja.201803_56(1).0006DOI Listing

Segmental storiform collagenomas: Expanding the spectrum of PTEN hamartoma tumor syndrome in children.

Pediatr Dermatol 2018 Jul 28;35(4):e253-e254. Epub 2018 May 28.

Division of Dermatology, Children's National Health System, Washington, District of Columbia.

A 4-year-old girl with autism spectrum disorder and congenital heart disease presented to dermatology clinic for evaluation of skin growths present since infancy. Physical examination was significant for macrocephaly and agminated skin-colored to pink papulonodules in a segmental distribution on the right lower back and buttocks, biopsy of which showed storiform collagenomas (sclerotic fibromas). Genetic testing revealed a pathogenic missense mutation in the PTEN gene, and a diagnosis of PTEN hamartoma tumor syndrome was made. Read More

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http://dx.doi.org/10.1111/pde.13535DOI Listing

Clinical Utility of Bedside Multibeam Optical Coherence Tomography Imaging in a Patient With Multiple Basal Cell Carcinomas.

Dermatol Surg 2018 Jun;44(6):874-876

Department of Dermatology, SUNY Downstate Medical Center, Brooklyn, New York Dermatology Service, Veterans Administration Hospital, Brooklyn, New York Department of Dermatology, Mount Sinai Medical Center, New York, New York.

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http://dx.doi.org/10.1097/DSS.0000000000001331DOI Listing
June 2018
1 Read
2.110 Impact Factor

Diffuse Gastric Ganglioneuromatosis: Novel Presentation of Hamartoma Syndrome-Case Report and Review of Gastric Ganglioneuromatous Proliferations and a Novel Gene Mutation.

Case Rep Med 2018 25;2018:4319818. Epub 2018 Mar 25.

Carilion Clinic, Roanoke, VA, USA.

Gastrointestinal ganglioneuromatous proliferations are rare, most often found in the colon, and are three types: polypoid ganglioneuromas, ganglioneuromatous polyposis, and diffuse ganglioneuromatosis. We present a case of diffuse ganglioneuromatosis in the posterior gastric wall in a nine-year-old female. To our knowledge, this is the first reported case of diffuse ganglioneuromatosis located in the stomach. Read More

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https://www.hindawi.com/journals/crim/2018/4319818/
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http://dx.doi.org/10.1155/2018/4319818DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5889855PMC
March 2018
13 Reads

Hamartoma-like lesions in the mouse retina: an animal model of hamartoma tumour syndrome.

Dis Model Mech 2018 05 21;11(5). Epub 2018 May 21.

Biological Sciences Platform, Sunnybrook Research Institute, Room 116, 2075 Bayview Ave, Toronto, ON, M4N 3M5, Canada

hamartoma tumour syndrome (PHTS) is a heterogeneous group of rare, autosomal dominant disorders associated with germline mutations. PHTS patients routinely develop hamartomas, which are benign tissue overgrowths comprised of disorganized 'normal' cells. Efforts to generate PHTS animal models have been largely unsuccessful due to the early lethality of homozygous germline mutations in , together with the lack of hamartoma formation in most conditional mutants generated to date. Read More

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http://dx.doi.org/10.1242/dmm.031005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992614PMC
May 2018
4 Reads

A pathogenic role for germline PTEN variants which accumulate into the nucleus.

Eur J Hum Genet 2018 08 30;26(8):1180-1187. Epub 2018 Apr 30.

Biocruces Health Research Institute, Barakaldo, Bizkaia, Spain.

The PTEN gene encodes a master regulator protein that exerts essential functions both in the cytoplasm and in the nucleus. PTEN is mutated in the germline of both patients with heterogeneous tumor syndromic diseases, categorized as PTEN hamartoma tumor syndrome (PHTS), and a group affected with autism spectrum disorders (ASD). Previous studies have unveiled the functional heterogeneity of PTEN variants found in both patient cohorts, making functional studies necessary to provide mechanistic insights related to their pathogenicity. Read More

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http://dx.doi.org/10.1038/s41431-018-0155-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057996PMC
August 2018
3 Reads

Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

PLoS Genet 2018 04 23;14(4):e1007352. Epub 2018 Apr 23.

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, United States of America.

Patients with heritable cancer syndromes characterized by germline PTEN mutations (termed PTEN hamartoma tumor syndrome, PHTS) benefit from PTEN-enabled cancer risk assessment and clinical management. PTEN-wildtype patients (~50%) remain at increased risk of developing certain cancers. Existence of germline mutations in other known cancer susceptibility genes has not been explored in these patients, with implications for different medical management. Read More

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http://dx.doi.org/10.1371/journal.pgen.1007352DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5933810PMC
April 2018
3 Reads

Arteriovenous malformation in the sigmoid colon of a patient with Cowden disease treated with laparoscopy: a case report.

BMC Surg 2018 Apr 10;18(1):21. Epub 2018 Apr 10.

Department of laparoscopic hernia center, Kariya Toyota General Hospital, 5-15 Sumiyoshi-cho, Kariya, Aichi, 448-8505, Japan.

Background: Cowden disease is a genetic disorder associated with a mutation of the PTEN gene and is known to be easily complicated by generalized vascular malformations and malignant tumors. However, only a few reports have investigated the relationship between Cowden disease and vascular malformations. We present a case of Cowden disease along with a review of the literature. Read More

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https://bmcsurg.biomedcentral.com/articles/10.1186/s12893-01
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http://dx.doi.org/10.1186/s12893-018-0355-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5894182PMC
April 2018
11 Reads

Protean manifestations of Proteus syndrome.

Postgrad Med J 2018 Jul 6;94(1113):416. Epub 2018 Apr 6.

Department of Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

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http://dx.doi.org/10.1136/postgradmedj-2018-135731DOI Listing
July 2018
5 Reads

An Unusual Case of Lhermitte-Duclos Disease Manifesting with Intratumoral Hemorrhage.

World Neurosurg 2018 Jun 3;114:326-329. Epub 2018 Apr 3.

Department of Neurosurgery, Seirei Hamamatsu General Hospital, Hamamatsu, Japan.

Background: Lhermitte-Duclos disease (LDD) is a rare neurologic disease that causes a hamartomatous lesion in the cerebellum. LDD is usually associated with mass lesion effects, but with appropriate surgical treatment, the clinical course is usually benign. We report a rare case of a patient with LDD with contrast enhancement on magnetic resonance imaging (MRI) who died as a result of intratumoral hemorrhage. Read More

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http://dx.doi.org/10.1016/j.wneu.2018.03.184DOI Listing
June 2018
2 Reads

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 Aug 2;11(8):1098-1109. 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

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http://dx.doi.org/10.1002/aur.1950DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6220804PMC
August 2018
10 Reads

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5868784PMC
March 2018
6 Reads

Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.

Eur J Med Genet 2018 Oct 30;61(10):585-595. Epub 2018 Mar 30.

Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.

Mutations in CPLANE1 (previously known as C5orf42) cause Oral-Facial-Digital Syndrome type VI (OFD6) as well as milder Joubert syndrome (JS) phenotypes. Seven new cases from five unrelated families diagnosed with pure OFD6 were systematically examined. Based on the clinical manifestations of these patients and those described in the literature, we revised the diagnostic features of OFD6 and include the seven most common characteristics: 1) molar tooth sign, 2) tongue hamartoma and/or lobulated tongue, 3) additional frenula, 4) mesoaxial polydactyly of hands, 5) preaxial polydactyly of feet, 6) syndactyly and/or bifid toe, and 7) hypothalamic hamartoma. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173041
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http://dx.doi.org/10.1016/j.ejmg.2018.03.012DOI Listing
October 2018
22 Reads

Prenatal diagnosis of a fetus with Proteus syndrome.

Prenat Diagn 2018 05 15;38(6):467-470. Epub 2018 Apr 15.

Department of Obstetrics and Gynaecology, Dalhousie University, Halifax, Nova Scotia, Canada.

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http://dx.doi.org/10.1002/pd.5252DOI Listing
May 2018
4 Reads

PTEN Mutation Identified in Patient Diagnosed with Simultaneous Multiple Cancers.

Cancer Res Treat 2019 Jan 27;51(1):402-407. 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

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http://www.e-crt.org/journal/view.php?doi=10.4143/crt.2017.5
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http://dx.doi.org/10.4143/crt.2017.579DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6333971PMC
January 2019
13 Reads

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

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http://dx.doi.org/10.21873/cgp.20069DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5892603PMC
August 2018
3 Reads

Cowden syndrome: clinical case and a brief review.

Dermatol Online J 2017 Aug 15;23(8). Epub 2017 Aug 15.

Department of Dermatology and Venereology, Centro Hospitalar São João EPE, Porto, Portugal.

Cowden syndrome is a rare genodermatosis of autosomal dominant inheritance characterized by multiple hamartomas in several organs and an increased risk of malignancies. We present the case of a 53-year-old man with a history of benign and malignant thyroid disease, intestinal polyposis, and Chiari malformation. He had several trichilemmomas, papillomatosis of the oral cavity, macular pigmentation of the glans penis, among other clinical features suggestive of Cowden syndrome. Read More

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August 2017
3 Reads

Disseminated Intravascular Coagulation and Acute Liver Injury from Ethanol Embolization of an Arteriovenous Malformation.

J Vasc Interv Radiol 2018 03;29(3):437-439

Department of Radiology, Division of Vascular and Interventional Radiology, University of Michigan Health System, 1500 East Medical Center Drive, Ann Arbor, MI 48109.

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http://dx.doi.org/10.1016/j.jvir.2017.09.021DOI Listing
March 2018
6 Reads

INTU-related oral-facial-digital syndrome type VI: A confirmatory report.

Clin Genet 2018 Jun 6;93(6):1205-1209. Epub 2018 Apr 6.

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

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http://dx.doi.org/10.1111/cge.13238DOI Listing
June 2018
3 Reads

Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome.

Epileptic Disord 2018 Feb;20(1):30-34

Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, USA.

Hemimegalencephaly is known to occur in Proteus syndrome, but has not been reported, to our knowledge, in the other PTEN mutation-related syndrome of Bannayan-Riley-Ruvalcaba. Here, we report a patient with Bannayan-Riley-Ruvalcaba syndrome who also had hemimegalencephaly and in whom the hemimegalencephaly was evident well before presentation of the characteristic manifestations of Bannayan-Riley-Ruvalcaba syndrome. An 11-year-old boy developed drug-resistant focal seizures on the fifth day of life. Read More

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http://dx.doi.org/10.1684/epd.2018.0954DOI Listing
February 2018
6 Reads

Tumor-induced osteomalacia in association with PTEN-negative Cowden syndrome.

Osteoporos Int 2018 04 29;29(4):993-997. Epub 2018 Jan 29.

Section on Skeletal Disorders and Mineral Homeostasis, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic condition in which phosphaturic mesenchymal tumors (PMTs) secrete high levels of fibroblast growth factor 23 (FGF23) into the circulation. This results in renal phosphate wasting, hypophosphatemia, muscle weakness, bone pain, and pathological fractures. Recent studies suggest that fibronectin-fibroblast growth factor receptor 1 (FN1-FGFR1) translocations may be a driver of tumorigenesis. Read More

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http://dx.doi.org/10.1007/s00198-017-4372-xDOI Listing
April 2018
7 Reads