Histological Patterns of Skin Lesions in Tuberous Sclerosis Complex: A Panorama

Cascarino, Marine; Leclerc‐Mercier, Stéphanie

doi:10.3390/dermatopathology8030029

Cited by 10 publications

(5 citation statements)

References 44 publications

(69 reference statements)

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“…Regarding the histopathological correlation, the whitish globules likely correspond to perifollicular fibrosis, and the reddish-brown background to increased number of dermal vessels and melanocytic hyperplasia. [7][8][9][10] In conclusion, we described for the first time the dermoscopic aspects of FAs in patients with skin phototype II-III affected by TSC.…”

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confidence: 72%

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Dermoscopy of facial angiofibromas in Fitzpatrick II‐III phototype subjects affected by tuberous sclerosis complex

Lacarrubba,

Verzì,

Magnani

et al. 2023

Skin Research and Technology

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Tuberous Sclerosis Complex (TSC) is an autosomal dominant multisystemic syndrome with a wide range of clinical features. [1][2][3] The diagnosis is generally easy and is usually based on the recognition during infancy of typical cutaneous and neurologic signs. However, skin lesions may show different age of onset and severity making the diagnosis more difficult. [1][2][3] In case of mild disease, TSC may remain unknown for years.Facial angiofibromas (FAs) are benign hamartomatous skin growths occurring in nearly 75% of patients with TSC. 4,5 They appear as reddish, fibrous, dome-shaped papules mainly involving the central area of the face (especially around nasolabial folds). The usual onset is between ages 2 and 5 years. 2,4 The identification of FAs is important as they may represent the sign of a TSC not yet diagnosed. Although one or two isolated sporadic lesions may be observed within the general population, F I G U R E 1 (A-D) Facial angiofibromas in four children affected by tuberous sclerosis complex: reddish, dome-shaped papules mainly involving the central area of the face.

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confidence: 72%

“…Regarding the histopathological correlation, the whitish globules likely correspond to perifollicular fibrosis, and the reddish‐brown background to increased number of dermal vessels and melanocytic hyperplasia. 7 , 8 , 9 , 10 …”

Section: Figurementioning

confidence: 99%

Dermoscopy of facial angiofibromas in Fitzpatrick II‐III phototype subjects affected by tuberous sclerosis complex

Lacarrubba,

Verzì,

Magnani

et al. 2023

Skin Research and Technology

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“…A sclerosis tuberosa többszervi betegségnek tartható. Közel minden érintettben kialakulnak bőrelváltozások, például hipopigmentált maculák és facialis angiofibro mák [40]. Az agyban gyakran corticalis tuberek, sube pendymalis nodulusok vagy ritkábban subependymalis óriássejtes astrocytomák jönnek létre.…”

Section: Sclerosis Tuberosaunclassified

Örökletes vesetumor-szindrómák.

Sánta

Semjén

Kuthi

2023

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A vesedaganatok egy része örökletes tumorszindrómákhoz társultan alakul ki. Ezek klinikai megjelenése változatos, és előfordulhat, hogy a vesedaganat a betegség első manifesztációja, ezért fontos, hogy a patológusok tisztában legyenek azokkal a makroszkópos jelekkel és szöveti elváltozásokkal, amelyek alapján a tumorszindróma lehetősége felvethető. Ebben a közleményben összefoglaljuk és szemléltetjük a kialakuló vesedaganatok jellemzőit, a genetikai hátteret és az extrarenalis eltéréseket a következő kórképekben: Von Hippel–Lindau-szindróma, örökletes papillaris vesesejtes carcinoma szindróma, örökletes leiomyomatosis és vesesejtes carcinoma szindróma, Birt–Hogg–Dubé-szindróma, sclerosis tuberosa, örökletes paraganglioma/phaeochromocytoma szindróma, illetve BAP1-tumorszindróma. A dolgozat végén tárgyaljuk azokat a tumorszindrómákat, amelyekben fokozott a Wilms-tumor kialakulásának kockázata. Az ilyen betegek ellátása holisztikus szemléletet és multidiszciplináris megközelítést igényel, ezért munkánk célja, hogy felhívjuk a vesetumorok ellátásában részt vevő kollégák figyelmét ezekre a ritka, ugyanakkor élethosszig tartó ellátást igénylő betegségekre. Orv Hetil. 2023; 164(10): 363–375.

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“…Cutaneous lesions are benign and not life-threatening, but they may worsen the quality of life of the patients. In addition to an extensive number of observational reports, the underlined development mechanism of TSC dermatological lesions is not completely understood, likely also because of their cellular heterogeneity and genetic complexity [ 5 ]. The treatment of TSC-associated skin lesions includes surgery and oral or topical administration of mTOR inhibitors, even if they do not prevent their recurrence [ 6 ].…”

Section: Introductionmentioning

confidence: 99%

Primary TSC2-/meth Cells Induce Follicular Neogenesis in an Innovative TSC Mouse Model

Bernardelli

Chiaramonte

Ancona

et al. 2022

IJMS

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Cutaneous lesions are one of the hallmarks of tuberous sclerosis complex (TSC), a genetic disease in which mTOR is hyperactivated due to the lack of hamartin or tuberin. To date, novel pharmacological treatments for TSC cutaneous lesions that are benign but still have an impact on a patient’s life are needed, because neither surgery nor rapamycin administration prevents their recurrence. Here, we demonstrated that primary TSC2-/meth cells that do not express tuberin for an epigenetic event caused cutaneous lesions and follicular neogenesis when they were subcutaneously injected in nude mice. Tuberin-null cells localized in the hair bulbs and alongside mature hairs, where high phosphorylation of S6 and Erk indicated mTOR hyperactivation. Interestingly, 5-azacytidine treatment reduced hair follicles, indicating that chromatin remodeling agents might be effective on TSC lesions in which cells lack tuberin for an epigenetic event. Moreover, we demonstrated that the primary TSC2-/meth cells had metastatic capability: when subcutaneously injected, they reached the bloodstream and lymphatics and invaded the lungs, causing the enlargement of the alveolar walls. The capability of TSC2-/meth cells to survive and migrate in vivo makes our mouse model ideal to follow the progression of the disease and test potential pharmacological treatments in a time-dependent manner.

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Histological Patterns of Skin Lesions in Tuberous Sclerosis Complex: A Panorama

Cited by 10 publications

References 44 publications

Dermoscopy of facial angiofibromas in Fitzpatrick II‐III phototype subjects affected by tuberous sclerosis complex

Dermoscopy of facial angiofibromas in Fitzpatrick II‐III phototype subjects affected by tuberous sclerosis complex

Örökletes vesetumor-szindrómák.

Primary TSC2-/meth Cells Induce Follicular Neogenesis in an Innovative TSC Mouse Model

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