SpringerLink: Der Hautarzt - Abstract Volume 46 Issue 7 (1995) Pp 472-476 Translate this page multiple hamartoma and neoplasia syndrome, or Cowden's disease, is a genodermatosisinherited as an autosomal dominant trait with variable expressivity. http://link.springer-ny.com/link/service/journals/00105/bibs/5046007/50460472.ht
Extractions: Cowden's disease Eingegangen am 20. April 1994 Angenommen am 24. August 1994 Zusammenfassung Summary Multiple hamartoma and neoplasia syndrome, or Cowden's disease, is a genodermatosis inherited as an autosomal dominant trait with variable expressivity. We describe a woman with classic mucocutaneous features of the syndrome: facial papules, acral keratoses, oral mucosal papillomatosis, oral polyps and scrotal tongue. As a child she had strabismus. Her family history is positive for the disease, and a sister died of malignant melanoma. The check-up revealed chronic lymphocytic thyroiditis. A checklist for use in screening patients with Cowden's disease is proposed. Key words Article not available online Online publication: November 9, 1997
Neoplasms List of links relating to neoplasms, with special section on nervous-system neoplasms. From Sweden.Category Health Conditions and Diseases Neoplasms Treatment of Psudomyxoma peritonei syndrome Sugarbaker Oncology multiple SymmetricalLipomatosis ME Boyle, via hamartoma hamartoma, pulmonary - Virt Hosp/U http://www.mic.ki.se/Diseases/c4.html
Cowden Syndrome breast, endometrial, and thyroid cancer. SYNONYMS, multiple hamartomasyndrome. PATHOGENESIS, CHARACTERIZATION. Identification of a PTEN http://www.thedoctorsdoctor.com/diseases/cowdensyndrome.htm
Extractions: Background Cowden syndrome (CS) is a autosomal dominant inherited syndrome. These patients are characterized by multiple hamartomas occurring in the skin, breast, thyroid, gastrointestinal tract, endometrium, and brain. Patients do have an increased risk of experiencing malignant tumors with the most common ones are breast, endometrial, and thyroid cancer. SYNONYMS Multiple hamartoma syndrome PATHOGENESIS CHARACTERIZATION Identification of a PTEN mutation in a family with Cowden syndrome and Bannayan-Zonana syndrome J Am Acad Dermatol 2001;44:183-7 Single kindred with individuals manifesting both CS and BZS phenotypes (CS/BZS overlap family) Novel mutation in PTEN by DNA sequencing. The PTEN gene (phosphatase and tensin homolog deleted from chromosome 10) has been identified as the susceptibility gene for CS and BZS Also known as MMAC1 (mutated in multiple advanced cancers) or TEP1 (TGF-regulated and e pithelial cell-enriched p hosphatase), is a tumor suppressor gene located on chromosome 10q23.28-30 It has 9 exons that encode a protein of 403 amino acids. The presence of individuals with CS and BZS within the same family, and moreover the identification of identical PTEN gene mutations in these individuals, suggest that these two syndromes represent different phenotypic expressions of one disease
WebGuest - Open Directory Health Conditions And Diseases M Mucopolysaccharidosis 3@ (4); multiple Chemical Sensitivity@ (28); multipleHamartoma syndrome@ (3); multiple Myeloma@ (17); multiple Personality http://directory.webguest.com/index.cgi/Health/Conditions_and_Diseases/M/
Extractions: Achondromatosis with haemangiomata, chondrodysplasia angiomatosis syndrome, chondrodystrophy-haemangiomas syndrome; chondrodystrophy and vascular hamartoma syndrome, chondrodystrophy with angiomatosis, chondrodystrophy with vascular hamartoma, cutaneous dyschondroplasia-dyschromia syndrome, dyschondroplasia-angiomatosis syndrome, dyschondroplasia with haemangioma, dyschondrodysplasia-haemangiomas syndrome; multiple enchondromatosis syndrome; vascular hamartoma-dyschondroplasia syndrome. Syndrome of enchondromas (benign tumours of cartilage), associated with multiple cavernous haemangiomas. Sometimes the patients show pigmentation. Normal at birth; bone and cartilage deformities appear during childhood in the years before puberty and the deformities increase during the period of growth. Complications are pathological fractures and other disorders of nonossified cartilage in the metaphyses and diaphyses of the long bones, chondrosarcoma and angiosarcoma. The skin and bony elsions are asymmetrical and do not coincide anatomically. Usually, no history of pain; orthostatic hypotension in sitting or standing position. Normal intelligence. Males are more frequently affected. Both sexes affected. Most cases are sporadic, but some instances of familial occurrence have been reported.
Extractions: Protocol Number: 94-HG-0193 Phenotype and Etiology of Pallister-Hall Syndrome 94-HG-0193 We aim to delineate the range of severity, natural history, molecular etiology, and pathophysiology of Pallister-Hall syndrome (PHS), Greig cephalopolysyndactyly syndrome (GCPS), McKusick-Kaufman syndrome (MKS), Bardet-Biedl syndrome (BBS), Oro-facial digital syndromes (OFDs), and other overlapping phenotypes. These disorders comprise a syndrome community of overlapping manifestations and we hypothesize that this is a reflection of a common mechanistic pathway. This hypothesis be addressed by a combined clinical-molecular approach where we bring up to 50-100 patients with each disorder to the NIH clinical center for a comprehensive clinical evaluation with follow-up at a frequency appropriate to the disorder. Specimens will be collected and evaluated in the laboratory by linkage analysis, physical mapping, candidate gene characterization, mutation screening, and cell biologic studies of normal mutant proteins. Referral Letter Required: No Population Exclusion(s): None Eligibility Criteria: INCLUSION CRITERIA: Subjects with clinical manifestations of a polydactyly syndrome including; PHS, oral-facial-digital syndrome, McKusick-Kaufman syndrome, Grieg cephalopolysyndactyly syndrome, Bardet-Biedl syndrome, acrocallosal syndrome, autosomal dominant polydactyly, isolated hypothalamic hamartoma.
Katalog Health Conditions_and_Diseases M - Netz-Tipp. multiple Chemical Sensitivity (*); multipleHamartoma syndrome (*); multiple Myeloma (*); multiple Personality http://www.netz-tipp.de/kat/Health/Conditions_and_Diseases/M/
CancerGene BZS Class, DISORDER. Diseases, Abnormalities, multiple; Brain Neoplasms; HamartomaSyndrome, multiple; Hemangioma; Lipoma. Note, see related gene PTEN (CG639). http://caroll.vjf.cnrs.fr/cancergene/CG917.html
Extractions: Selected MEDLINE References: [Link to NCBI] [Link to CancerGene Citation Database] Marsh DJ;Kum JB;Lunetta KL;Bennett MJ;Gorlin RJ;Ahmed SF;Bodurtha J;Crowe C;Curtis MA;Dasouki M;Dunn T;Feit H;Geraghty MT;Graham JM Jr;Hodgson SV;Hunter A;Korf BR;Manchester D;Miesfeldt S;Murday VA;Nathanson KL;Parisi M;Pober B;Romano C;Eng C;et al
Error Page détaillée de la maladie, MIM 158350, newsgroup. question to Orphanet. DISEASE Cowden syndrome, Synonym(s) Multiplehamartoma syndrome, CIM Q85.8, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=201
Uveitis And Glaucoma In Cowden Syndrome Cowden syndrome (CS). Introduction. Cowden syndrome has also the name of multiplehamartoma syndrome and was first described by Lloyd and Dennis in 1963. http://www.uveitis.org/Enhanced/MD_info/md_Cowden_sy.htm
Extractions: Uveitis and Glaucoma in Cowden Syndrome. Therapeutical challenge. Margherita E. Meniconi Introduction Case presentation A caucasian female, age 22, was referred for recommendations for treatment of uveitic glaucoma in her remaining right eye. Her past ocular history was significant for bilateral uveitis at age 4, complicated by retinal detachment OS and OS phthisis. Her right eye needed surgical excision of a vitreo-retinal traction band. After a period of stability, retinal detachment developed in the right eye and was successfully treated with pars plana vitrectomy and scleral buckling at age 13 years. Secondary cataract developed, requiring cataract extraction. Best-corrected vision at age 14 was 20/40. The intraocular pressure was normal until age 17. Glaucoma then developed, and the pressure was around 29 mmHg, despite therapy with dorzolamide, timolol, brimodine and latanaprost. The review of system was significant for status post pneumonia at age 16 and status post thyroidectomy two years earlier and recent diagnosis of Cowden Syndrome. At the time of consultation with us, the patients best-corrected vision in OD was 20/30, pinhole 20/25; OS no light perception. The intraocular pressures were 19mmHg OD and 6mmHg OS.
AnsMe Directory - Health > Conditions And Diseases > M Mucopolysaccharidosis 3. multiple Chemical Sensitivity. multiple HamartomaSyndrome. multiple Myeloma. multiple Personality Disorder. multiple Sclerosis. http://dir.ansme.com/health/43355.html
