Cowden Syndrome – Diagnostic Skin Signs

Hildenbrand, C.; Burgdorf, Walter H. C.; Lautenschlager, Stephan

doi:10.1159/000051684

Cited by 62 publications

(52 citation statements)

References 23 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The skin of these mice shows focally increased epidermal thickness due to hyperkeratosis (Di Cristofano et al 1998), a feature commonly observed with CD patients. The association of squamous cell carcinomas with CD has also been reported (Camisa et al 1984;Hildenbrand et al 2001), but these lesions were not observed in Pten +/− animals. On the other hand, 100% of mice with complete Pten deficiency, and a proportion with Pten heterozygosity, in their keratinocytes spontaneously develop papillomas and squamous cell carcinomas (Suzuki et al 2003), indicating that Pten is an important suppressor of skin tumorigenesis.…”

mentioning

confidence: 53%

Mutually exclusive mutations of the Pten and ras pathways in skin tumor progression

Mao¹,

To²,

Pérez-Losada³

et al. 2004

Genes Dev.

View full text Add to dashboard Cite

) mice develop increased papilloma numbers and show decreased carcinoma latency time in comparison with controls after skin treatment with dimethyl benzanthracene (DMBA) and tetradecanoyl-phorbol acetate (TPA). H-ras mutation is normally a hallmark of DMBA-TPA-induced skin tumors, but 70% of carcinomas from Pten +/− mice do not exhibit this mutation, and in all cases have lost the wild-type Pten allele. Tumors that retain the Pten wild-type allele also have H-ras mutations, indicating that activation of Hras and complete loss of Pten are mutually exclusive events in skin carcinomas. Mitogen-activated protein kinase (MAPK) is consistently activated in the tumors with H-ras mutations, but is strongly down-regulated in Pten −/− tumors, suggesting that this pathway is dispensable for skin carcinoma formation. These data have important implications in designing individual therapeutic strategies for the treatment of cancer.

show abstract

mentioning

confidence: 53%

Mutually exclusive mutations of the Pten and ras pathways in skin tumor progression

Mao¹,

To²,

Pérez-Losada³

et al. 2004

Genes Dev.

View full text Add to dashboard Cite

show abstract

“…Among the characteristic symptoms of Cowden disease are trichilemmomas in the face skin papules, papillomatosis in the mucosal and cutaneous tissues, and hyperkeratosis in the acral region of the skin (Hildenbrand et al, 2001). The association of cutaneous squamous cell carcinomas with Cowden disease has also been reported (Camisa et al, 1984;Nuss et al, 1978).…”

Section: Role Of Pten In Keratinocytesmentioning

confidence: 99%

Physiological Functions of Pten in Mouse Tissues.

Kishimoto

Hamada

Saunders

et al. 2003

Cell Struct. Funct.

107

View full text Add to dashboard Cite

ABSTRACT. PTEN is a tumor suppressor gene mutated in many human sporadic cancers and in hereditary cancer syndromes such as Cowden disease, Bannayan-Zonana syndrome and Lhermitte-Duclos disease. The major substrate of PTEN is PIP3, a second messenger molecule produced following PI3K activation induced by variety of stimuli. PIP3 activates the serine-threonine kinase PKB/Akt which is involved in anti-apoptosis, proliferation and oncogenesis. In mice, heterozygosity for a null mutation of Pten (Pten +/-mice) frequently leads to the development of a variety of cancers and autoimmune disease. Homozygosity for the null mutation (Pten -/-mice) results in early embryonic lethality, precluding the functional analysis of Pten in various organs. To investigate the physiological functions of Pten in viable mice, various tissue-specific Pten mutations have been generated using the Cre-loxP system. This review will summarize the phenotypes of conditional mutant mice lacking Pten function in specific tissues, and discuss how these phenotypes relate to the physiological roles of Pten in various organ systems.

show abstract

“…4 Often, the potential for internal malignancy is first suspected when the skin disease is recognized. The skin changes are protean and are described below.…”

Section: Inherited Syndromesmentioning

confidence: 99%

“…A variety of cutaneous and mucosal manifestations can occur; these are observed at any time from childhood to middle age. [4][5][6][7] Small (1-4 mm) flesh-colored papules (trichilemmomas) are found mainly on the head and neck and may assume a wartlike appearance (Fig. 1).…”

Section: Cowden Syndrome (Multiple Hamartoma Syndrome)mentioning

confidence: 99%

See 1 more Smart Citation

Cutaneous Manifestations of Internal Malignancy

Thiers¹,

Sahn²,

Callen³

2009

CA: A Cancer Journal for Clinicians

127

107

View full text Add to dashboard Cite

The skin often mirrors changes in the organism it envelops. Many neoplastic diseases that affect internal organs display cutaneous manifestations, which may be the presenting signs and symptoms of the underlying malignancy. These may reflect direct involvement of the skin by the tumor (ie, tumor metastasis) or indirect involvement, in which changes in the skin occur in the absence of malignant cells. This review focuses on the latter conditions, which are often referred to as paraneoplastic dermatoses. Included in the discussion are the cutaneous manifestations of inherited syndromes that are associated with an increased risk of internal malignancy, cutaneous changes in patients with hormone-secreting tumors, and the wide spectrum of proliferative and inflammatory dermatoses that have been associated with internal cancer. CA Cancer J Clin 2009;59:73-98.

show abstract

Cowden Syndrome – Diagnostic Skin Signs

Cited by 62 publications

References 23 publications

Mutually exclusive mutations of the Pten and ras pathways in skin tumor progression

Mutually exclusive mutations of the Pten and ras pathways in skin tumor progression

Physiological Functions of Pten in Mouse Tissues.

Cutaneous Manifestations of Internal Malignancy

Contact Info

Product

Resources

About