The Skin in Cowden Syndrome

Lim, Agnes; Ngeow, Joanne

doi:10.3389/fmed.2021.658842

Cited by 13 publications

(33 citation statements)

References 83 publications

(147 reference statements)

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“…Lipomas can also be found in association with genetic syndromes including MEN1, Birt-Hogg-Dubé, and Cowden Syndrome. In MEN1 syndrome, lipomas are less frequent than other cutaneous tumors and are often solitary [ 53 , 83 , 84 , 85 , 86 ]. Lipomas were observed in 11 studies according to our research criteria [ 31 , 48 , 49 , 53 , 54 , 57 , 59 , 60 , 69 , 70 , 71 ].…”

Section: Men1 and Skin Tumor Profilementioning

confidence: 99%

Approach of Multiple Endocrine Neoplasia Type 1 (MEN1) Syndrome–Related Skin Tumors

et al. 2022

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Non-endocrine findings in patients with MEN1 (multiple endocrine neoplasia) syndrome also include skin lesions, especially tumor-type lesions. This is a narrative review of the English-language medical literature including original studies concerning MEN1 and dermatological issues (apart from dermatologic features of each endocrine tumor/neuroendocrine neoplasia), identified through a PubMed-based search (based on clinical relevance, with no timeline restriction or concern regarding the level of statistical significance). We identified 27 original studies involving clinical presentation of patients with MEN1 and cutaneous tumors; eight other original studies that also included the genetic background; and four additional original studies were included. The largest cohorts were from studies in Italy (N = 145 individuals), Spain (N = 90), the United States (N = 48 and N = 32), and Japan (N = 28). The age of patients varied from 18 to 76 years, with the majority of individuals in their forties. The most common cutaneous tumors are angiofibromas (AF), collagenomas (CG), and lipomas (L). Other lesions are atypical nevi, basocellular carcinoma, squamous cell carcinoma, acrochordons, papillomatosis confluens et reticularis, gingival papules, and cutaneous T-cell lymphoma of the eyelid. Non-tumor aspects are confetti-like hypopigmentation, café-au-lait macules, and gingival papules. MEN1 gene, respective menin involvement has also been found in melanomas, but the association with MEN1 remains debatable. Typically, cutaneous tumors (AF, CG, and L) are benign and are surgically treated only for cosmetic reasons. Some of them are reported as first presentation. Even though skin lesions are not pathognomonic, recognizing them plays an important role in early identification of MEN1 patients. Whether a subgroup of MEN1 subjects is prone to developing these types of cutaneous lesions and how they influence MEN1 evolution is still an open issue.

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Section: Men1 and Skin Tumor Profilementioning

confidence: 99%

Approach of Multiple Endocrine Neoplasia Type 1 (MEN1) Syndrome–Related Skin Tumors

et al. 2022

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“…Trichilemmomas are benign hamartomas which originate in the outer root sheath of the hair follicle and occur in 6-38% of patients [25,27]. They occur as multiple flesh-coloured papules of up to 5 mm diameter, predominantly on the face and neck [28]. Oral papillomas are asymptomatic 1-3 mm papules which arise on the lips, buccal mucosa, gingivae and tongue and occur in up to 15-85% of patients.…”

Section: Cowden Syndromementioning

confidence: 99%

“…Oral papillomas are asymptomatic 1-3 mm papules which arise on the lips, buccal mucosa, gingivae and tongue and occur in up to 15-85% of patients. Lesions that coalesce may adopt a 'cobblestone' appearance [28]. Acral keratoses are flesh-coloured, hyperkeratotic 'wart-like' papules that tend to occur on the dorsum and palmo-plantar surfaces of the hands and feet and affect up to 10-82% of individuals with CS [24,25,27].…”

Section: Cowden Syndromementioning

confidence: 99%

“…Acral keratoses are flesh-coloured, hyperkeratotic 'wart-like' papules that tend to occur on the dorsum and palmo-plantar surfaces of the hands and feet and affect up to 10-82% of individuals with CS [24,25,27]. Mucocutaneous neuromas represent hamartomas of the peripheral nerve sheath and appear as painful flesh-coloured or pink papules on the face, hands, trunk and shins [28]. Penile freckling occurs in 19-46% of males with PTHS [24,25], although this may be seen in 15% in the general population and in other genetic conditions, such as Carney, LEOPARD and Peutz-Jegher syndromes [28].…”

Section: Cowden Syndromementioning

confidence: 99%

“…Mucocutaneous neuromas represent hamartomas of the peripheral nerve sheath and appear as painful flesh-coloured or pink papules on the face, hands, trunk and shins [28]. Penile freckling occurs in 19-46% of males with PTHS [24,25], although this may be seen in 15% in the general population and in other genetic conditions, such as Carney, LEOPARD and Peutz-Jegher syndromes [28]. Lipomas and vascular malformations may also be seen.…”

Section: Cowden Syndromementioning

confidence: 99%

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Genodermatoses – Opportunities for Early Detection and Cancer Prevention

Carley

Kulkarni

2022

Curr Genet Med Rep

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Purpose of Review This review describes the clinical features of the major adult-onset genodermatosis-associated hereditary cancer predisposition syndromes. Diagnosis of these conditions can be challenging due to a wide range of clinical features, varied presentations within families and the involvement of multiple medical specialities. Recent Findings By emphasising the cutaneous and other non-malignant features, we aim to alert clinicians from all specialities to clues in the clinical history which should prompt consideration of a genodermatosis-associated hereditary cancer predisposition syndrome. In recognition of the move towards remote (telephone or video) appointments since the Covid-19 pandemic, we propose criteria which could be used by Cancer Genetics services to triage patients for in-person consultations in order to examine for signs of genodermatosis. Summary Although individually rare, familiarity with these conditions amongst genetic and non-genetic clinicians is important as early diagnosis provides an opportunity to implement risk-reduction measures prior to a cancer diagnosis.

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Giant cell collagenomas associated with Cowden syndrome: A case report

Salusti‐Simpson,

Madrid,

Cook

2024

J Cutan Pathol

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Storiform collagenoma, also known as sclerotic fibroma, is a relatively rare benign cutaneous tumor consisting of a proliferation of fibroblasts that shows increased production of type I collagen. It may appear as a solitary, sporadic lesion, or, especially when multiple, associated with Cowden syndrome. Giant cell collagenoma has a histopathologic appearance similar to that of storiform collagenoma with the addition of floret‐type giant cells. Herein, we report the finding of multiple giant cell collagenomas arising in an individual with Cowden syndrome. In a review of the published literature, this histopathologic variant appears to be rarely observed in association with Cowden syndrome.

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The Skin in Cowden Syndrome

Cited by 13 publications

References 83 publications

Approach of Multiple Endocrine Neoplasia Type 1 (MEN1) Syndrome–Related Skin Tumors

Approach of Multiple Endocrine Neoplasia Type 1 (MEN1) Syndrome–Related Skin Tumors

Genodermatoses – Opportunities for Early Detection and Cancer Prevention

Giant cell collagenomas associated with Cowden syndrome: A case report

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