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Connective tissue nevi

MedGen UID:
83107
Concept ID:
C0334083
Neoplastic Process
Synonym: Connective Tissue Nevus
SNOMED CT: Connective tissue nevus of skin (400091006); Connective tissue nevus (400091006); Connective tissue hamartoma of skin (400091006); Dermal connective tissue hamartoma (400091006); Connective tissue nevus (22858003); Nevus elasticus of Lewandowsky (22858003)
 
HPO: HP:0100898

Definition

Connective tissue nevi are hamartomas in which one or several components of the dermis is altered. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Connective tissue nevi

Conditions with this feature

Dermatofibrosis lenticularis disseminata
MedGen UID:
120545
Concept ID:
C0265514
Disease or Syndrome
Buschke-Ollendorff syndrome (BOS) is an autosomal dominant connective tissue disorder manifest by multiple subcutaneous nevi or nodules. They may be either elastin-rich (elastoma) or collagen-rich (dermatofibrosis lenticularis disseminata) on histologic examination. The lesions are usually nontender and firm. Affected individuals also have osteopoikilosis (OPK), literally meaning 'spotted bones,' which are osteosclerotic foci that occur in the epiphyses and metaphyses of long bones, wrist, foot, ankle, pelvis, and scapula. Some individuals have both skin and bone manifestations, whereas others may lack skin or bone manifestations. Some individuals may also have melorheostosis (155950), which is characterized by 'flowing' hyperostosis of the cortex of tubular bones. Most reported cases of BOS and OPK are benign, and the bone lesions are found incidentally, although some patients may have joint pain (reviews by Hellemans et al., 2004 and Zhang et al., 2009).

Professional guidelines

PubMed

Turner JT, Cohen MM Jr, Biesecker LG
Am J Med Genet A 2004 Oct 1;130A(2):111-22. doi: 10.1002/ajmg.a.30327. PMID: 15372514

Recent clinical studies

Etiology

Tirelli F, Giraudo C, Soliani M, Calabrese F, Martini G, Gisondi P, Meneghel A, Zulian F
Pediatr Rheumatol Online J 2023 Oct 17;21(1):125. doi: 10.1186/s12969-023-00913-9. PMID: 37848914Free PMC Article
Pithadia DJ, Cartron AM, Biesecker LG, Darling TN
Pediatr Dermatol 2021 Jul;38(4):794-799. Epub 2021 Jun 8 doi: 10.1111/pde.14624. PMID: 34105192Free PMC Article
Arora H, Falto-Aizpurua L, Cortés-Fernandez A, Choudhary S, Romanelli P
Am J Dermatopathol 2017 May;39(5):325-341. doi: 10.1097/DAD.0000000000000638. PMID: 28426484
McCuaig CC, Vera C, Kokta V, Marcoux D, Hatami A, Thuraisingam T, Marton D, Fortier-Riberdy G, Powell J
J Am Acad Dermatol 2012 Nov;67(5):890-7. Epub 2012 Jun 26 doi: 10.1016/j.jaad.2012.01.036. PMID: 22739355
Saussine A, Marrou K, Delanoé P, Bodak N, Hamel D, Picard A, Sassolas B, de Prost Y, Lemerrer M, Fraitag S, Bodemer C
J Am Acad Dermatol 2012 Aug;67(2):233-9. Epub 2011 Oct 19 doi: 10.1016/j.jaad.2011.08.008. PMID: 22014540

Diagnosis

Gaudiello F, Patrì A, Ferrillo M, DI Guida A, Fabbrocini G, Vastarella M
Ital J Dermatol Venerol 2023 Aug;158(4):359-360. doi: 10.23736/S2784-8671.22.07335-2. PMID: 37539505
Rocha RCC, Estrella MPS, Amaral DMD, Barbosa AM, Abreu MAMM
An Bras Dermatol 2017 Sep-Oct;92(5):717-720. doi: 10.1590/abd1806-4841.20174496. PMID: 29166516Free PMC Article
Arora H, Falto-Aizpurua L, Cortés-Fernandez A, Choudhary S, Romanelli P
Am J Dermatopathol 2017 May;39(5):325-341. doi: 10.1097/DAD.0000000000000638. PMID: 28426484
Velez MJ, Billings SD, Weaver JA
J Cutan Pathol 2016 Jan;43(1):75-9. Epub 2015 Oct 21 doi: 10.1111/cup.12605. PMID: 26268513
Jamis-Dow CA, Turner J, Biesecker LG, Choyke PL
Radiographics 2004 Jul-Aug;24(4):1051-68. doi: 10.1148/rg.244035726. PMID: 15256628

Therapy

Tirelli F, Giraudo C, Soliani M, Calabrese F, Martini G, Gisondi P, Meneghel A, Zulian F
Pediatr Rheumatol Online J 2023 Oct 17;21(1):125. doi: 10.1186/s12969-023-00913-9. PMID: 37848914Free PMC Article
Biesecker LG, Edwards M, O'Donnell S, Doherty P, MacDougall T, Tith K, Kazakin J, Schwartz B
Cold Spring Harb Mol Case Stud 2020 Feb;6(1) Epub 2020 Feb 3 doi: 10.1101/mcs.a004549. PMID: 32014856Free PMC Article
Arora H, Falto-Aizpurua L, Cortés-Fernandez A, Choudhary S, Romanelli P
Am J Dermatopathol 2017 May;39(5):325-341. doi: 10.1097/DAD.0000000000000638. PMID: 28426484
Yadav S, Khullar G, Saikia UN, Dogra S
Dermatol Ther 2013 Sep-Oct;26(5):419-23. Epub 2013 Mar 28 doi: 10.1111/dth.12016. PMID: 24099074
Cohen PR, Eliezri YD, Silvers DN
Cutis 1992 Aug;50(2):131-5. PMID: 1511619

Prognosis

Arora H, Falto-Aizpurua L, Cortés-Fernandez A, Choudhary S, Romanelli P
Am J Dermatopathol 2017 May;39(5):325-341. doi: 10.1097/DAD.0000000000000638. PMID: 28426484
Gutierrez D, Cooper KD, Mitchell AL, Cohn HI
Pediatr Dermatol 2015 Sep-Oct;32(5):e219-20. Epub 2015 Jul 2 doi: 10.1111/pde.12634. PMID: 26135202
Surrenti T, Callea F, De Horatio LT, Diociaiuti A, El Hachem M
Cutis 2014 Aug;94(2):97-100. PMID: 25184645
Aroni K, Kyriazi E, Aivaliotis M, Davaris P
J Eur Acad Dermatol Venereol 2004 May;18(3):340-1. doi: 10.1111/j.1468-3083.2004.00865.x. PMID: 15096150
Yavuzer R, Uluoğlu O, Sari A, Boyacioğlu M, Sarigüney Y, Latifoğlu O, Celebi MC
Ann Plast Surg 2001 Dec;47(6):669-72. doi: 10.1097/00000637-200112000-00016. PMID: 11756840

Clinical prediction guides

Pithadia DJ, Cartron AM, Biesecker LG, Darling TN
Pediatr Dermatol 2021 Jul;38(4):794-799. Epub 2021 Jun 8 doi: 10.1111/pde.14624. PMID: 34105192Free PMC Article
Frost M, Rahbek ET, Ejersted C, Høilund-Carlsen PF, Bygum A, Thomsen JS, Andreasen CM, Andersen TL, Frederiksen AL
Bone 2020 Jun;135:115313. Epub 2020 Mar 6 doi: 10.1016/j.bone.2020.115313. PMID: 32151766
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
Saussine A, Marrou K, Delanoé P, Bodak N, Hamel D, Picard A, Sassolas B, de Prost Y, Lemerrer M, Fraitag S, Bodemer C
J Am Acad Dermatol 2012 Aug;67(2):233-9. Epub 2011 Oct 19 doi: 10.1016/j.jaad.2011.08.008. PMID: 22014540
Cohen PR, Eliezri YD, Silvers DN
Cutis 1992 Aug;50(2):131-5. PMID: 1511619

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