1974
DOI: 10.1001/archderm.109.4.521
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Multiple hamartoma syndrome (Cowden disease)

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Cited by 17 publications
(14 citation statements)
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“…26,62 These findings resemble those of the solitary circumscribed neuroma (also known as palisaded encapsulated neuroma), although palisaded encapsulated neuromas typically show intersecting fascicles of spindle cells forming larger nodules, with less obvious mucin than was evident in our case. 62,63 The novel nonsense germline mutation detected in our patient (Trp111X) is located in exon 5 of PTEN, which encodes the phosphatase core motif (discussed in the penultimate paragraph of this section) and represents the site of 40% of all CS mutations reported to date.…”
Section: 21034supporting
confidence: 72%
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“…26,62 These findings resemble those of the solitary circumscribed neuroma (also known as palisaded encapsulated neuroma), although palisaded encapsulated neuromas typically show intersecting fascicles of spindle cells forming larger nodules, with less obvious mucin than was evident in our case. 62,63 The novel nonsense germline mutation detected in our patient (Trp111X) is located in exon 5 of PTEN, which encodes the phosphatase core motif (discussed in the penultimate paragraph of this section) and represents the site of 40% of all CS mutations reported to date.…”
Section: 21034supporting
confidence: 72%
“…25 A review of the world literature (including a search of the MEDLINE database from January 1, 1966, to March 31, 2005, case series, reviews, textbooks, editorials, and the reference lists of all articles identified) revealed that cutaneous neuromas have previously been described in at least 11 patients with PHTS, 8 of whom had CS (Table 1). 5,16,[26][27][28][29][30][31][32][33] These lesions had a predilection for the extremities and face, and mucosal neuromas were noted in 2 patients. 28,32 Despite these observations, neuromas are not mentioned as a manifestation of CS in the diagnostic criteria for the disorder, 2,34 in databases such as the Online Mendelian Inheritance in Man, 35 or in several recent review articles.…”
Section: Discussionmentioning
confidence: 99%
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“…En 1974, Gentry, Eskritt et Gorlin analysent 7 cas observés dans la même famille sur 3 générations, et confirment les observations précédentes [3]. En 1986, Starink confirme également le mode transmission en analysant 21 cas appartenant à 7 familles différentes [4].…”
Section: Historiqueunclassified
“…Elle est présente dans le cytoplasme cellulaire et le noyau [44][45][46][47][48][49][50][51]. Il s'agit d'une phosphatase lipidique et protéinique qui déphosphoryle les phosphatidylinostitol (3,4,5) triphosphates [PI(3,4,5)P3] et d'autres substances comme la tyrosine, la sérine et la thréonine [52][53][54]. L'action du PTEN cytoplasmique est notamment antagoniste de la phosphatidyl-inositol 3'-kinase (PI 3-kinase ou PI3K).…”
Section: Données Génétiquesunclassified