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Thyroiditis

MedGen UID:
506505
Concept ID:
CN117538
Finding
 
HPO: HP:0100646

Definition

Inflammation of the thyroid gland. [from HPO]

Conditions with this feature

Cowden syndrome
MedGen UID:
5420
Concept ID:
C0018553
Neoplastic Process
Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers. Almost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person's late twenties. Cowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include colorectal cancer, kidney cancer, and a form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development or intellectual disability. The features of Cowden syndrome overlap with those of another disorder called Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors. Both conditions can be caused by mutations in the PTEN gene. Some people with Cowden syndrome have had relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other individuals have had the characteristic features of both conditions. Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome instead of two distinct conditions. Some people have some of the characteristic features of Cowden syndrome, particularly the cancers associated with this condition, but do not meet the strict criteria for a diagnosis of Cowden syndrome. These individuals are often described as having Cowden-like syndrome.
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
MedGen UID:
56485
Concept ID:
C0162671
Disease or Syndrome
MELAS syndrome, comprising mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, is a genetically heterogeneous mitochondrial disorder with a variable clinical phenotype. The disorder is accompanied by features of central nervous system involvement, including seizures, hemiparesis, hemianopsia, cortical blindness, and episodic vomiting (Pavlakis et al., 1984; Montagna et al., 1988). Other mitochondrial encephalomyopathies include Leigh syndrome (LS; 256000), Kearns-Sayre syndrome (KSS; 530000), MERRF syndrome (545000), and Leber optic atrophy (535000).
Bannayan-Riley-Ruvalcaba syndrome
MedGen UID:
78554
Concept ID:
C0265326
Congenital Abnormality
The PTEN hamartoma tumor syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and Proteus-like syndrome. CS is a multiple hamartoma syndrome with a high risk for benign and malignant tumors of the thyroid, breast, and endometrium. Affected individuals usually have macrocephaly, trichilemmomas, and papillomatous papules, and present by the late 20s. The lifetime risk of developing breast cancer is 85%, with an average age of diagnosis between 38 and 46 years. The lifetime risk for thyroid cancer (usually follicular, rarely papillary, but never medullary thyroid cancer) is approximately 35%. The risk for endometrial cancer, although not well defined, may approach 28%. BRRS is a congenital disorder characterized by macrocephaly, intestinal hamartomatous polyposis, lipomas, and pigmented macules of the glans penis. PS is a complex, highly variable disorder involving congenital malformations and hamartomatous overgrowth of multiple tissues, as well as connective tissue nevi, epidermal nevi, and hyperostoses. Proteus-like syndrome is undefined but refers to individuals with significant clinical features of PS who do not meet the diagnostic criteria for PS.
Histiocytic medullary reticulosis
MedGen UID:
321464
Concept ID:
C1801959
Neoplastic Process
An autosomal recessive combined immunodeficiency syndrome caused by mutations in the RAG-1 and RAG-2 genes. It is characterized by the presence of alopecia, erythroderma, desquamation, lymphadenopathy, and chronic diarrhea.
Autoimmune thyroid disease 3
MedGen UID:
374932
Concept ID:
C1842444
Finding
Thymoma, familial
MedGen UID:
376447
Concept ID:
C1848814
Neoplastic Process
Thymomas are low-grade epithelial cancers of the thymus. Familial occurrence of thymoma is rare.

Recent clinical studies

Etiology

Liu CL, Cheng SP, Lin HW, Lai YL
Ann Surg Oncol 2014 Mar;21(3):843-9. Epub 2013 Nov 8 doi: 10.1245/s10434-013-3363-1. [Epub ahead of print] PMID: 24201747
Yoon YH, Kwon KR, Kwak SY, Ryu KA, Choi B, Kim JM, Koo BS
Eur Arch Otorhinolaryngol 2014 May;271(5):1235-9. Epub 2013 Jul 24 doi: 10.1007/s00405-013-2638-2. [Epub ahead of print] PMID: 23880922
Yoo YH, Kim JA, Son EJ, Youk JH, Kwak JY, Kim EK, Park CS
J Ultrasound Med 2013 Dec;32(12):2145-51. doi: 10.7863/ultra.32.12.2145. PMID: 24277897
Morris LF, Iupe IM, Edeiken-Monroe BS, Warneke CL, Hansen MO, Evans DB, Lee JE, Grubbs EG, Perrier ND
Endocr Pract 2013 Nov-Dec;19(6):1015-20. doi: 10.4158/EP12334.OR. PMID: 24013973
Nakadate M, Yoshida K, Ishii A, Koizumi M, Tochigi N, Suzuki Y, Ryu Y, Nakagawa T, Umehara I, Shibuya H
Clin Nucl Med 2013 Sep;38(9):709-14. doi: 10.1097/RLU.0b013e31829b2686. PMID: 23816945

Diagnosis

Fellegara G, Rosai J
Am J Surg Pathol 2015 Mar;39(3):416-24. doi: 10.1097/PAS.0000000000000337. PMID: 25353282
Sweeney LB, Stewart C, Gaitonde DY
Am Fam Physician 2014 Sep 15;90(6):389-96. PMID: 25251231
Sultana N, Rima S, Rahman S, Azad SA, Karim ME, Shawkat S, Ahsan M, Kamal MM, Begum M
Mymensingh Med J 2014 Jan;23(1):86-93. PMID: 24584379
Liu CL, Cheng SP, Lin HW, Lai YL
Ann Surg Oncol 2014 Mar;21(3):843-9. Epub 2013 Nov 8 doi: 10.1245/s10434-013-3363-1. [Epub ahead of print] PMID: 24201747
Yoo YH, Kim JA, Son EJ, Youk JH, Kwak JY, Kim EK, Park CS
J Ultrasound Med 2013 Dec;32(12):2145-51. doi: 10.7863/ultra.32.12.2145. PMID: 24277897

Therapy

Zhang Y, Du Y, Li K, He J
Eye Sci 2014 Mar;29(1):47-52. PMID: 26016066
Sweeney LB, Stewart C, Gaitonde DY
Am Fam Physician 2014 Sep 15;90(6):389-96. PMID: 25251231
Liu CL, Cheng SP, Lin HW, Lai YL
Ann Surg Oncol 2014 Mar;21(3):843-9. Epub 2013 Nov 8 doi: 10.1245/s10434-013-3363-1. [Epub ahead of print] PMID: 24201747
Morris LF, Iupe IM, Edeiken-Monroe BS, Warneke CL, Hansen MO, Evans DB, Lee JE, Grubbs EG, Perrier ND
Endocr Pract 2013 Nov-Dec;19(6):1015-20. doi: 10.4158/EP12334.OR. PMID: 24013973
Hong JT, Lee JH, Kim SH, Hong SB, Nam M, Kim YS, Chu YC
Korean J Intern Med 2013 Mar;28(2):236-41. Epub 2013 Feb 27 doi: 10.3904/kjim.2013.28.2.236. PMID: 23526581Free PMC Article

Prognosis

Fellegara G, Rosai J
Am J Surg Pathol 2015 Mar;39(3):416-24. doi: 10.1097/PAS.0000000000000337. PMID: 25353282
Sweeney LB, Stewart C, Gaitonde DY
Am Fam Physician 2014 Sep 15;90(6):389-96. PMID: 25251231
Liu CL, Cheng SP, Lin HW, Lai YL
Ann Surg Oncol 2014 Mar;21(3):843-9. Epub 2013 Nov 8 doi: 10.1245/s10434-013-3363-1. [Epub ahead of print] PMID: 24201747
Yoo YH, Kim JA, Son EJ, Youk JH, Kwak JY, Kim EK, Park CS
J Ultrasound Med 2013 Dec;32(12):2145-51. doi: 10.7863/ultra.32.12.2145. PMID: 24277897
Morris LF, Iupe IM, Edeiken-Monroe BS, Warneke CL, Hansen MO, Evans DB, Lee JE, Grubbs EG, Perrier ND
Endocr Pract 2013 Nov-Dec;19(6):1015-20. doi: 10.4158/EP12334.OR. PMID: 24013973

Clinical prediction guides

Fellegara G, Rosai J
Am J Surg Pathol 2015 Mar;39(3):416-24. doi: 10.1097/PAS.0000000000000337. PMID: 25353282
Sultana N, Rima S, Rahman S, Azad SA, Karim ME, Shawkat S, Ahsan M, Kamal MM, Begum M
Mymensingh Med J 2014 Jan;23(1):86-93. PMID: 24584379
Giagourta I, Evangelopoulou C, Papaioannou G, Kassi G, Zapanti E, Prokopiou M, Papapostolou K, Karga H
Head Neck 2014 Apr;36(4):531-5. Epub 2013 Jun 1 doi: 10.1002/hed.23331. [Epub ahead of print] PMID: 23729390
Yoo YH, Kim JA, Son EJ, Youk JH, Kwak JY, Kim EK, Park CS
J Ultrasound Med 2013 Dec;32(12):2145-51. doi: 10.7863/ultra.32.12.2145. PMID: 24277897
Morris LF, Iupe IM, Edeiken-Monroe BS, Warneke CL, Hansen MO, Evans DB, Lee JE, Grubbs EG, Perrier ND
Endocr Pract 2013 Nov-Dec;19(6):1015-20. doi: 10.4158/EP12334.OR. PMID: 24013973

Recent systematic reviews

Luo H, Lü M, Pei X, Xia Z
J Tradit Chin Med 2014 Jun;34(3):243-53. PMID: 24992749
Qiu H, Tang W, Yin P, Cheng F, Wang L
Endocrine 2014 Mar;45(2):198-205. Epub 2013 May 16 doi: 10.1007/s12020-013-9985-z. [Epub ahead of print] PMID: 23677500
Feng M, Zhang FB, Deng HR
Endocrine 2013 Oct;44(2):350-8. Epub 2013 Jul 17 doi: 10.1007/s12020-013-0014-z. [Epub ahead of print] PMID: 23860622
van Zuuren EJ, Albusta AY, Fedorowicz Z, Carter B, Pijl H
Cochrane Database Syst Rev 2013 Jun 6;6:CD010223. doi: 10.1002/14651858.CD010223.pub2. PMID: 23744563
Hennessey JV
J Clin Endocrinol Metab 2011 Oct;96(10):3031-41. Epub 2011 Aug 10 doi: 10.1210/jc.2011-0617. [Epub ahead of print] PMID: 21832114

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