Comparative Study

. 2016 Feb;136(2):535-538.

doi: 10.1016/j.jid.2015.11.015. Epub 2015 Dec 10.

Nipple Angiofibromas with Loss of TSC2 Are Associated with Tuberous Sclerosis Complex

Neera Nathan¹, Magdalena E Tyburczy², Lana Hamieh², Ji-An Wang³, G Thomas Brown⁴, Chyi-Chia Richard Lee⁴, David J Kwiatkowski², Joel Moss⁵, Thomas N Darling⁶

Affiliations

¹ Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA; Cardiovascular and Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA.
² Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
³ Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA.
⁴ Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
⁵ Cardiovascular and Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA.
⁶ Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA. Electronic address: thomas.darling@usuhs.edu.

PMID: 26824744
PMCID: PMC4733881
DOI: 10.1016/j.jid.2015.11.015

Comparative Study

Nipple Angiofibromas with Loss of TSC2 Are Associated with Tuberous Sclerosis Complex

Neera Nathan et al. J Invest Dermatol. 2016 Feb.

. 2016 Feb;136(2):535-538.

doi: 10.1016/j.jid.2015.11.015. Epub 2015 Dec 10.

Authors

Neera Nathan¹, Magdalena E Tyburczy², Lana Hamieh², Ji-An Wang³, G Thomas Brown⁴, Chyi-Chia Richard Lee⁴, David J Kwiatkowski², Joel Moss⁵, Thomas N Darling⁶

Affiliations

¹ Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA; Cardiovascular and Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA.
² Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
³ Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA.
⁴ Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
⁵ Cardiovascular and Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA.
⁶ Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA. Electronic address: thomas.darling@usuhs.edu.

PMID: 26824744
PMCID: PMC4733881
DOI: 10.1016/j.jid.2015.11.015

No abstract available

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Figures

**Figure 1. Gross and microscopic features of nipple-areolar complex angiofibromas**
(a) Pink papules on the nipple and areola. (b) Hematoxylin and eosin stain shows increased number of dilated vessels and fibroblasts consistent with the diagnosis of an angiofibroma. (c) Factor XIIIa staining demonstrates positive cells in the dermis as seen in facial angiofibromas. (d) Immunoreactivity to phosphorylated ribosomal protein S6 (pS6) in scattered dermal fibroblast-like cells suggests hyperactivation of the mechanistic target of rapamycin.

See this image and copyright information in PMC

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Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway.
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Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex.
Klonowska K, Giannikou K, Grevelink JM, Boeszoermenyi B, Thorner AR, Herbert ZT, Afrin A, Treichel AM, Hamieh L, Kotulska K, Jozwiak S, Moss J, Darling TN, Kwiatkowski DJ. Klonowska K, et al. Am J Hum Genet. 2023 Jun 1;110(6):979-988. doi: 10.1016/j.ajhg.2023.04.002. Epub 2023 May 3. Am J Hum Genet. 2023. PMID: 37141891 Free PMC article.
Clinical Characteristics of Connective Tissue Nevi in Tuberous Sclerosis Complex With Special Emphasis on Shagreen Patches.
Bongiorno MA, Nathan N, Oyerinde O, Wang JA, Lee CR, Brown GT, Moss J, Darling TN. Bongiorno MA, et al. JAMA Dermatol. 2017 Jul 1;153(7):660-665. doi: 10.1001/jamadermatol.2017.0298. JAMA Dermatol. 2017. PMID: 28445558 Free PMC article.
Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.
Klonowska K, Grevelink JM, Giannikou K, Ogorek BA, Herbert ZT, Thorner AR, Darling TN, Moss J, Kwiatkowski DJ. Klonowska K, et al. J Clin Invest. 2022 May 16;132(10):e155858. doi: 10.1172/JCI155858. J Clin Invest. 2022. PMID: 35358092 Free PMC article.
Cutaneous Expression of Familial Cancer Syndromes.
Andersen AJ, Schierbeck J, Bygum A, Puente-Pablo N. Andersen AJ, et al. Acta Derm Venereol. 2021 Jul 30;101(7):adv00505. doi: 10.2340/00015555-3852. Acta Derm Venereol. 2021. PMID: 34159396 Free PMC article. Review.

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References

1. Aldrich CS, Hong CH, Groves L, et al. Acral lesions in tuberous sclerosis complex: insights into pathogenesis. J Amer Acad Dermatol. 2010;63:244–51. - PMC - PubMed
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Nipple Angiofibromas with Loss of TSC2 Are Associated with Tuberous Sclerosis Complex

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Nipple Angiofibromas with Loss of TSC2 Are Associated with Tuberous Sclerosis Complex

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