Cowden syndrome

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline <i>PTEN</i> mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

Macrocephaly

Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.


Total: 12

                       


(per page)
PMID (PMCID)
25040032
 FEMALE Adult
Cowden syndrome--a case report emphasizing the role of the dental surgeon in diagnosis.
Webber LP, Martins MD, Carrard VC, Trevizani Martins MA, Munerato MC.
Spec Care Dentist. 2015;35(1):51-4.
Cowden syndrome or multiple hamartoma syndrome, is a rare genetic condition inherited in an autosomal dominant pattern characterized by cutaneous manifestations, polyps, thyroid gland neoplasias, and macrocephaly.
25040032
 FEMALE Adult
Cowden syndrome--a case report emphasizing the role of the dental surgeon in diagnosis.
Webber LP, Martins MD, Carrard VC, Trevizani Martins MA, Munerato MC.
Spec Care Dentist. 2015;35(1):51-4.
Cowden syndrome or multiple hamartoma syndrome, is a rare genetic condition inherited in an autosomal dominant pattern characterized by cutaneous manifestations, polyps, thyroid gland neoplasias, and macrocephaly.
23804288
 FEMALE Middle Aged
Unusual case of Cowden-like syndrome, neck paraganglioma, and pituitary adenoma.
Efstathiadou ZA, Sapranidis M, Anagnostis P, Kita MD.
Head Neck. 2014;36(1):E12-6.
The synchronous presentation of papillary thyroid carcinoma and neck paraganglioma was revealed in a 43-year-old woman who had been diagnosed with a microprolactinoma one decade before and now presented with a constellation of characteristics that are components of Cowden syndrome, specifically macrocephaly, multiple skin papules, fibrocystic mammary disease, and uterine leiomyofibroma.
24629685
 MIXED_SAMPLE Adult
[Cowden syndrome diagnosed in patients with macrocephaly].
Skytte AB, Bojesen A, Bygum A.
Ugeskr Laeger. 2014;176(2):165-7.
[Cowden syndrome diagnosed in patients with macrocephaly].
24629685
 MIXED_SAMPLE Adult
[Cowden syndrome diagnosed in patients with macrocephaly].
Skytte AB, Bojesen A, Bygum A.
Ugeskr Laeger. 2014;176(2):165-7.
We present a case of Cowden syndrome in a mother and her son, who were diagnosed with palmoplantar hyperkeratosis, macrocephaly and goitre.
23382303
 MALE Infant
Brothers with germline PTEN mutations and persistent hypoglycemia, macrocephaly, developmental delay, short stature, and coagulopathy.
Granados A, Eng C, Diaz A.
J Pediatr Endocrinol Metab. 2013;26(1-2):137-41.
Mutations in PTEN have been identified in different clinical disorders such as Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Proteus syndrome, Proteus-like syndrome, and autism spectrum disorders with macrocephaly (Hobert).
23132533
 MIXED_SAMPLE Young Adult
The clinical consequences of hemizygosity across 2 MB of 10q23 are restricted to Cowden syndrome.
Lewis CM, Bu D, Sarode V, Robinson L, Wilson KS, Viscusi RK, Eng C, Euhus DM.
Breast Cancer Res Treat. 2012;136(3):911-8.
Cowden syndrome is caused by germline mutations in PTEN and clinically characterized by hamartomas, macrocephaly, classic dermatologic stigmata, and an estimated 85 % lifetime risk of female breast cancer.
21943449
 MALE Middle Aged
Testicular pain as a presentation of Cowden syndrome.
Alnajjar HM, Sahai A, Keane A, Gordon S.
Ann R Coll Surg Engl. 2011;93(5):e51-2.
He was also found to have macrocephaly, freckling of his glans and foreskin and an enlarged nodular goitre and the geneticist diagnosed Cowden syndrome.
21926107
 MALE Adult
Two distinct thyroid tumours in a patient with Cowden syndrome carrying both a 10q23 and a mitochondrial DNA germline deletion.
Pradella LM, Zuntini R, Magini P, Ceccarelli C, Neri I, Cerasoli S, Graziano C, Gasparre G, Turchetti D.
J Med Genet. 2011;48(11):779-82.
Cowden syndrome (CS) is an autosomal dominant disorder characterised by macrocephaly, specific mucocutaneous features and predisposition to benign and malignant tumours.
18986487
 MIXED_SAMPLE Adult
Skin abnormalities in individuals with macrocephaly: Cowden disease from a dermatologist's point of view.
van der Velden JJ, Vreeburg M, Smeets EE, Schrander-Stumpel CT, van Steensel MA.
Int J Dermatol. 2008;47 Suppl 1:45-8.
Skin abnormalities in individuals with macrocephaly: Cowden disease from a dermatologist's point of view.
15805158
 MIXED_SAMPLE Child
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.
Butler MG, Dasouki MJ, Zhou XP, Talebizadeh Z, Brown M, Takahashi TN, Miles JH, Wang CH, Stratton R, Pilarski R, Eng C.
J Med Genet. 2005;42(4):318-21.
Occasionally, individuals with Cowden syndrome (a cancer syndrome) and other related hamartoma disorders such as Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Proteus-like conditions, are characterised by germline PTEN mutations, and may have neurobehavioural features resembling autism as well as overgrowth and macrocephaly.
8131297
 MIXED_SAMPLE Infant
Cowden syndrome: report of a large family with macrocephaly and increased severity of signs in subsequent generations.
Hanssen AM, Werquin H, Suys E, Fryns JP.
Clin Genet. 1993;44(6):281-6.
Cowden syndrome: report of a large family with macrocephaly and increased severity of signs in subsequent generations.