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Skin Lymphangioleiomyomatosis

MedGen UID:
90948
•Concept ID:
C0340116
•
Neoplastic Process
Synonyms: Lymphangioleiomyomatosis of skin; Lymphangioleiomyomatosis of Skin; Lymphangioleiomyomatosis of the Skin
SNOMED CT: Lymphangioleiomyomatosis of skin (233719000)

Definition

Lymphangiomyomatosis involving the dermis. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSkin Lymphangioleiomyomatosis

Professional guidelines

PubMed

Lymphangioleiomyomatosis Association with Underlying Genotype in Patients with Tuberous Sclerosis Complex.
Tian X, Glass JE, Kwiatkowski DJ, Towbin AJ, Li Y, Sund KL, Krueger DA, Franz DN, McCormack FX, Gupta N
Ann Am Thorac Soc 2021 May;18(5):815-819. doi: 10.1513/AnnalsATS.202008-911OC. PMID: 33171065
Is mTOR inhibition a systemic treatment for tuberous sclerosis?
Moavero R, Coniglio A, Garaci F, Curatolo P
Ital J Pediatr 2013 Sep 17;39:57. doi: 10.1186/1824-7288-39-57. PMID: 24044547Free PMC Article
A current viewpoint of lymphangioleiomyomatosis supporting immunotherapeutic treatment options.
Dilling DF, Gilbert ER, Picken MM, Eby JM, Love RB, Le Poole IC
Am J Respir Cell Mol Biol 2012 Jan;46(1):1-5. doi: 10.1165/rcmb.2011-0215TR. PMID: 21940815

Recent clinical studies

Etiology

Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature.
Zöllner JP, Grau J, Rosenow F, Sauter M, Knuf M, Kurlemann G, Mayer T, Hertzberg C, Bertsche A, Immisch I, Klein KM, Knake S, Marquard K, Meyer S, Noda AH, von Podewils F, Schäfer H, Thiels C, Willems LM, Zukunft B, Schubert-Bast S, Strzelczyk A
Orphanet J Rare Dis 2021 Jun 2;16(1):250. doi: 10.1186/s13023-021-01838-w. PMID: 34078440Free PMC Article
Cystic Lung Disease in Genetic Syndromes with Deficient Tumor Suppressor Gene Function.
Daccord C, Nicod LP, Lazor R
Respiration 2017;94(6):467-485. Epub 2017 Nov 23 doi: 10.1159/000485106. PMID: 29169151
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
JAMA Dermatol 2017 Jul 1;153(7):660-665. doi: 10.1001/jamadermatol.2017.0298. PMID: 28445558Free PMC Article
Gynecologic Manifestations of Less Commonly Encountered Hereditary Syndromes.
DeLair DF, Soslow RA
Surg Pathol Clin 2016 Jun;9(2):269-87. Epub 2016 Apr 11 doi: 10.1016/j.path.2016.01.008. PMID: 27241108
Is mTOR inhibition a systemic treatment for tuberous sclerosis?
Moavero R, Coniglio A, Garaci F, Curatolo P
Ital J Pediatr 2013 Sep 17;39:57. doi: 10.1186/1824-7288-39-57. PMID: 24044547Free PMC Article

Diagnosis

Lymphangioleiomyomatosis and Other Cystic Lung Diseases.
Koslow M, Lynch DA, Cool CD, Groshong SD, Downey GP
Immunol Allergy Clin North Am 2023 May;43(2):359-377. doi: 10.1016/j.iac.2023.01.003. PMID: 37055093Free PMC Article
Birt-Hogg-Dubé syndrome.
Daccord C, Good JM, Morren MA, Bonny O, Hohl D, Lazor R
Eur Respir Rev 2020 Sep 30;29(157) Epub 2020 Sep 17 doi: 10.1183/16000617.0042-2020. PMID: 32943413Free PMC Article
Tuberous sclerosis: a review of the past, present, and future.
Uysal SP, Şahin M
Turk J Med Sci 2020 Nov 3;50(SI-2):1665-1676. doi: 10.3906/sag-2002-133. PMID: 32222129Free PMC Article
Less common manifestations in TSC.
Boronat S, Barber I
Am J Med Genet C Semin Med Genet 2018 Sep;178(3):348-354. Epub 2018 Aug 29 doi: 10.1002/ajmg.c.31648. PMID: 30156054
Pulmonary manifestations in tuberous sclerosis complex.
Gupta N, Henske EP
Am J Med Genet C Semin Med Genet 2018 Sep;178(3):326-337. Epub 2018 Jul 28 doi: 10.1002/ajmg.c.31638. PMID: 30055039Free PMC Article

Therapy

Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature.
Zöllner JP, Grau J, Rosenow F, Sauter M, Knuf M, Kurlemann G, Mayer T, Hertzberg C, Bertsche A, Immisch I, Klein KM, Knake S, Marquard K, Meyer S, Noda AH, von Podewils F, Schäfer H, Thiels C, Willems LM, Zukunft B, Schubert-Bast S, Strzelczyk A
Orphanet J Rare Dis 2021 Jun 2;16(1):250. doi: 10.1186/s13023-021-01838-w. PMID: 34078440Free PMC Article
Pulmonary manifestations in tuberous sclerosis complex.
Gupta N, Henske EP
Am J Med Genet C Semin Med Genet 2018 Sep;178(3):326-337. Epub 2018 Jul 28 doi: 10.1002/ajmg.c.31638. PMID: 30055039Free PMC Article
Tuberous sclerosis complex.
Henske EP, Jóźwiak S, Kingswood JC, Sampson JR, Thiele EA
Nat Rev Dis Primers 2016 May 26;2:16035. doi: 10.1038/nrdp.2016.35. PMID: 27226234
Tuberous sclerosis complex: tumors and tumorigenesis.
Borkowska J, Schwartz RA, Kotulska K, Jozwiak S
Int J Dermatol 2011 Jan;50(1):13-20. doi: 10.1111/j.1365-4632.2010.04727.x. PMID: 21182496
Lymphangioleiomyomatosis: A review.
Hohman DW, Noghrehkar D, Ratnayake S
Eur J Intern Med 2008 Jul;19(5):319-24. Epub 2007 Dec 26 doi: 10.1016/j.ejim.2007.10.015. PMID: 18549932

Prognosis

Pulmonary manifestations in tuberous sclerosis complex.
Gupta N, Henske EP
Am J Med Genet C Semin Med Genet 2018 Sep;178(3):326-337. Epub 2018 Jul 28 doi: 10.1002/ajmg.c.31638. PMID: 30055039Free PMC Article
Cystic Lung Disease in Genetic Syndromes with Deficient Tumor Suppressor Gene Function.
Daccord C, Nicod LP, Lazor R
Respiration 2017;94(6):467-485. Epub 2017 Nov 23 doi: 10.1159/000485106. PMID: 29169151
Is mTOR inhibition a systemic treatment for tuberous sclerosis?
Moavero R, Coniglio A, Garaci F, Curatolo P
Ital J Pediatr 2013 Sep 17;39:57. doi: 10.1186/1824-7288-39-57. PMID: 24044547Free PMC Article
Lymphangioleiomyomatosis and tuberous sclerosis.
Hancock E, Tomkins S, Sampson J, Osborne J
Respir Med 2002 Jan;96(1):7-13. doi: 10.1053/rmed.2001.1206. PMID: 11863212
Pulmonary tuberous sclerosis.
Castro M, Shepherd CW, Gomez MR, Lie JT, Ryu JH
Chest 1995 Jan;107(1):189-95. doi: 10.1378/chest.107.1.189. PMID: 7813275

Clinical prediction guides

Effect of beta-agonists on LAM progression and treatment.
Le K, Steagall WK, Stylianou M, Pacheco-Rodriguez G, Darling TN, Vaughan M, Moss J
Proc Natl Acad Sci U S A 2018 Jan 30;115(5):E944-E953. Epub 2018 Jan 16 doi: 10.1073/pnas.1719960115. PMID: 29339522Free PMC Article
Fibrous cephalic plaques in tuberous sclerosis complex.
Oyerinde O, Buccine D, Treichel A, Hong C, Lee CR, Moss J, Darling TN
J Am Acad Dermatol 2018 Apr;78(4):717-724. Epub 2017 Dec 16 doi: 10.1016/j.jaad.2017.12.027. PMID: 29258863Free 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
JAMA Dermatol 2017 Jul 1;153(7):660-665. doi: 10.1001/jamadermatol.2017.0298. PMID: 28445558Free PMC Article
A current viewpoint of lymphangioleiomyomatosis supporting immunotherapeutic treatment options.
Dilling DF, Gilbert ER, Picken MM, Eby JM, Love RB, Le Poole IC
Am J Respir Cell Mol Biol 2012 Jan;46(1):1-5. doi: 10.1165/rcmb.2011-0215TR. PMID: 21940815
Recognition of tuberous sclerosis in adult women: delayed presentation with life-threatening consequences.
Seibert D, Hong CH, Takeuchi F, Olsen C, Hathaway O, Moss J, Darling TN
Ann Intern Med 2011 Jun 21;154(12):806-13, W-294. doi: 10.7326/0003-4819-154-12-201106210-00008. PMID: 21690595Free PMC Article

Recent systematic reviews

Efficacy and safety of sirolimus for renal angiomyolipoma in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis: a systematic review.
Peng ZF, Yang L, Wang TT, Han P, Liu ZH, Wei Q
J Urol 2014 Nov;192(5):1424-30. Epub 2014 May 9 doi: 10.1016/j.juro.2014.04.096. PMID: 24813310

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