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Abnormal cutaneous elastic fiber morphology

MedGen UID:
1369253
Concept ID:
C4476582
Anatomical Abnormality
Synonym: Abnormal cutaneous elastic fibre morphology
 
HPO: HP:0025082

Definition

Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils. [from HPO]

Conditions with this feature

Cutis laxa, autosomal recessive, type 1A
MedGen UID:
78663
Concept ID:
C0268351
Congenital Abnormality
FBLN5-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective disorder such as inguinal hernias and hollow viscus diverticula (e.g., intestine, bladder). Occasionally, supravalvar aortic stenosis is observed. Intrafamilial variability in age of onset is observed. Cardiorespiratory failure from complications of pulmonary emphysema (respiratory or cardiac insufficiency) is the most common cause of death.

Professional guidelines

PubMed

Hodak E, Feuerman H, Barzilai A, David M, Cerroni L, Feinmesser M
Arch Dermatol 2010 Feb;146(2):175-82. doi: 10.1001/archdermatol.2009.340. PMID: 20157029

Recent clinical studies

Etiology

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
Aksu Çerman A, Aktaş E, Kıvanç Altunay IK, Demirkesen C
Acta Dermatovenerol Croat 2016 Jun;24(2):148-9. PMID: 27477177
Frew JW, Murrell DF, Haber RM
Int J Dermatol 2015 Oct;54(10):1109-23. Epub 2015 Jul 30 doi: 10.1111/ijd.12945. PMID: 26227781
Uitto J, Li Q, Urban Z
Exp Dermatol 2013 Feb;22(2):88-92. Epub 2012 Oct 23 doi: 10.1111/exd.12025. PMID: 23088642Free PMC Article
de Moraes AM, Cintra ML, Sampaio S de A, Sotto MN, Sesso A
Ultrastruct Pathol 2000 May-Jun;24(3):129-34. doi: 10.1080/01913120050132859. PMID: 10914423

Diagnosis

Weigelt MA, Franklin MJ, Mathur D, Billings SD, Ronen S
J Cutan Pathol 2023 Aug;50(8):730-733. Epub 2023 May 7 doi: 10.1111/cup.14445. PMID: 37150825
Andrés-Ramos I, Alegría-Landa V, Gimeno I, Pérez-Plaza A, Rütten A, Kutzner H, Requena L
Am J Dermatopathol 2019 Feb;41(2):85-117. doi: 10.1097/DAD.0000000000001275. PMID: 30688725
Frew JW, Murrell DF, Haber RM
Int J Dermatol 2015 Oct;54(10):1109-23. Epub 2015 Jul 30 doi: 10.1111/ijd.12945. PMID: 26227781
Cui JZ, Tehrani AY, Jett KA, Bernatchez P, van Breemen C, Esfandiarei M
J Struct Biol 2014 Sep;187(3):242-253. Epub 2014 Jul 30 doi: 10.1016/j.jsb.2014.07.003. PMID: 25086405
López Aventín D, Gallardo F, Gil I, Martín-Ezquerra G, García M, Bellosillo B, Juanpere N, Pujol RM
J Dermatol 2012 Jun;39(6):548-51. Epub 2012 Mar 13 doi: 10.1111/j.1346-8138.2012.01523.x. PMID: 22409396

Therapy

Valbuena V, Assaad D, Yeung J
J Cutan Med Surg 2017 Jul/Aug;21(4):345-347. Epub 2017 Mar 10 doi: 10.1177/1203475417699407. PMID: 28282240
Guérin-Moreau M, Leftheriotis G, Le Corre Y, Etienne M, Amode R, Hamel JF, Croué A, Le Saux O, Machet L, Martin L
Br J Dermatol 2013 Dec;169(6):1233-9. doi: 10.1111/bjd.12545. PMID: 23909384Free PMC Article
Bernstein EF, Underhill CB, Hahn PJ, Brown DB, Uitto J
Br J Dermatol 1996 Aug;135(2):255-62. doi: 10.1111/j.1365-2133.1996.tb01156.x. PMID: 8881669
Fazio MJ, Olsen DR, Uitto JJ
Cutis 1989 May;43(5):437-44. PMID: 2721242
Braverman IM
Dermatol Clin 1986 Jul;4(3):391-405. PMID: 3521985

Prognosis

Valbuena V, Assaad D, Yeung J
J Cutan Med Surg 2017 Jul/Aug;21(4):345-347. Epub 2017 Mar 10 doi: 10.1177/1203475417699407. PMID: 28282240
Lowther CM, Morrison AO, Candelario NM, Khalafbeigi S, Cockerell CJ
Am J Dermatopathol 2016 Oct;38(10):e140-3. doi: 10.1097/DAD.0000000000000664. PMID: 27643829
Wat H, Wu DC, Mahmood MN, Brassard A
JAMA Dermatol 2014 Oct;150(10):1091-4. doi: 10.1001/jamadermatol.2014.61. PMID: 24898161
Guérin-Moreau M, Leftheriotis G, Le Corre Y, Etienne M, Amode R, Hamel JF, Croué A, Le Saux O, Machet L, Martin L
Br J Dermatol 2013 Dec;169(6):1233-9. doi: 10.1111/bjd.12545. PMID: 23909384Free PMC Article
Millesi H
Hand Clin 1986 Nov;2(4):651-63. PMID: 3539948

Clinical prediction guides

Cui JZ, Tehrani AY, Jett KA, Bernatchez P, van Breemen C, Esfandiarei M
J Struct Biol 2014 Sep;187(3):242-253. Epub 2014 Jul 30 doi: 10.1016/j.jsb.2014.07.003. PMID: 25086405
López Aventín D, Gallardo F, Gil I, Martín-Ezquerra G, García M, Bellosillo B, Juanpere N, Pujol RM
J Dermatol 2012 Jun;39(6):548-51. Epub 2012 Mar 13 doi: 10.1111/j.1346-8138.2012.01523.x. PMID: 22409396
Dawn ME, Deng AC, Petrali J, Wessely C, Jaffe D, Gaspari AA
Skinmed 2008 Jan-Feb;7(1):43-5. doi: 10.1111/j.1540-9740.2007.06353.x. PMID: 18174804
Uitto J, Pulkkinen L, Ringpfeil F
Trends Mol Med 2001 Jan;7(1):13-7. doi: 10.1016/s1471-4914(00)01869-4. PMID: 11427982
Braverman IM, Fonferko E
J Invest Dermatol 1982 May;78(5):434-43. doi: 10.1111/1523-1747.ep12507866. PMID: 7069221

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