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Abnormal cutaneous collagen fibril morphology

MedGen UID:
1615320
•Concept ID:
C4531073
•
Anatomical Abnormality
HPO: HP:0031512

Recent clinical studies

Etiology

Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome.
Syx D, De Wandele I, Symoens S, De Rycke R, Hougrand O, Voermans N, De Paepe A, Malfait F
Hum Mol Genet 2019 Jun 1;28(11):1853-1864. doi: 10.1093/hmg/ddz024. PMID: 30668708
Injury-Driven Stiffening of the Dermis Expedites Skin Carcinoma Progression.
Mittapalli VR, Madl J, Löffek S, Kiritsi D, Kern JS, Römer W, Nyström A, Bruckner-Tuderman L
Cancer Res 2016 Feb 15;76(4):940-51. Epub 2015 Dec 16 doi: 10.1158/0008-5472.CAN-15-1348. PMID: 26676755
Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.
Kon A, McGrath JA, Pulkkinen L, Nomura K, Nakamura T, Maekawa Y, Christiano AM, Hashimoto I, Uitto J
J Invest Dermatol 1997 Feb;108(2):224-8. doi: 10.1111/1523-1747.ep12335324. PMID: 9008239
Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa.
Christiano AM, Suga Y, Greenspan DS, Ogawa H, Uitto J
J Clin Invest 1995 Mar;95(3):1328-34. doi: 10.1172/JCI117783. PMID: 7883979Free PMC Article
Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa.
Christiano AM, Anhalt G, Gibbons S, Bauer EA, Uitto J
Genomics 1994 May 1;21(1):160-8. doi: 10.1006/geno.1994.1238. PMID: 8088783

Diagnosis

Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers-Danlos syndrome.
McElroy A, Gray-Edwards H, Coghill LM, Lyons LA
J Vet Intern Med 2023 Sep-Oct;37(5):1716-1724. Epub 2023 Aug 18 doi: 10.1111/jvim.16805. PMID: 37594181Free PMC Article
Vulvar Cutaneous Myxoma in a Patient With Carney Complex: Avoiding Pitfalls of Myxoid Lesions of the Vulva.
Wong J, Roy SF, Gu L, Samouelian V, Berthelet F, Rahimi K
Int J Surg Pathol 2022 Feb;30(1):33-38. Epub 2021 May 24 doi: 10.1177/10668969211020504. PMID: 34029148
Severe epidermolysis bullosa/Kindler syndrome-like phenotype of an autoinflammatory syndrome in a child.
Mahajan R, Bishnoi A, Manjunath S, Vignesh P, Suri D, Gopal M, Chatterjee D, Jamwal M, De D, Das R, Handa S, Kubba A, Batrani M, Radotra BD
Clin Exp Dermatol 2021 Jun;46(4):795-799. Epub 2021 Feb 24 doi: 10.1111/ced.14557. PMID: 33625737
Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome.
Syx D, De Wandele I, Symoens S, De Rycke R, Hougrand O, Voermans N, De Paepe A, Malfait F
Hum Mol Genet 2019 Jun 1;28(11):1853-1864. doi: 10.1093/hmg/ddz024. PMID: 30668708
Diagnosis and clinical features of epidermolysis bullosa acquisita.
Caux F
Dermatol Clin 2011 Jul;29(3):485-91, x. doi: 10.1016/j.det.2011.03.017. PMID: 21605816

Therapy

Bone marrow transplantation for recessive dystrophic epidermolysis bullosa.
Wagner JE, Ishida-Yamamoto A, McGrath JA, Hordinsky M, Keene DR, Woodley DT, Chen M, Riddle MJ, Osborn MJ, Lund T, Dolan M, Blazar BR, Tolar J
N Engl J Med 2010 Aug 12;363(7):629-39. doi: 10.1056/NEJMoa0910501. PMID: 20818854Free PMC Article

Prognosis

Monozygotic twins discordant for recessive dystrophic epidermolysis bullosa phenotype highlight the role of TGF-β signalling in modifying disease severity.
Odorisio T, Di Salvio M, Orecchia A, Di Zenzo G, Piccinni E, Cianfarani F, Travaglione A, Uva P, Bellei B, Conti A, Zambruno G, Castiglia D
Hum Mol Genet 2014 Aug 1;23(15):3907-22. Epub 2014 Mar 5 doi: 10.1093/hmg/ddu102. PMID: 24599399
The course of pregnancy and childbirth in three mothers with recessive dystrophic epidermolysis bullosa.
Hanafusa T, Tamai K, Umegaki N, Yamaguchi Y, Fukuda S, Nishikawa Y, Yaegashi N, Okuyama R, McGrath JA, Katayama I
Clin Exp Dermatol 2012 Jan;37(1):10-4. Epub 2011 Oct 18 doi: 10.1111/j.1365-2230.2011.04179.x. PMID: 22007850
Scleroderma-like indurations involving fascias: an abortive form of congenital fascial dystrophy (Stiff skin syndrome).
Jablonska S, Blaszczyk M
Pediatr Dermatol 2000 Mar-Apr;17(2):105-10. doi: 10.1046/j.1525-1470.2000.01724.x. PMID: 10792797
Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1).
Järvikallio A, Pulkkinen L, Uitto J
Hum Mutat 1997;10(5):338-47. doi: 10.1002/(SICI)1098-1004(1997)10:5<338::AID-HUMU2>3.0.CO;2-B. PMID: 9375848
Early preclinical diagnosis of dominant pseudoxanthoma elasticum by specific ultrastructural changes of dermal elastic and collagen tissue in a family at risk.
Hausser I, Anton-Lamprecht I
Hum Genet 1991 Oct;87(6):693-700. doi: 10.1007/BF00201728. PMID: 1937472

Clinical prediction guides

Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers-Danlos syndrome.
McElroy A, Gray-Edwards H, Coghill LM, Lyons LA
J Vet Intern Med 2023 Sep-Oct;37(5):1716-1724. Epub 2023 Aug 18 doi: 10.1111/jvim.16805. PMID: 37594181Free PMC Article
Collagen VII Expression Is Required in Both Keratinocytes and Fibroblasts for Anchoring Fibril Formation in Bilayer Engineered Skin Substitutes.
Supp DM, Hahn JM, Combs KA, McFarland KL, Schwentker A, Boissy RE, Boyce ST, Powell HM, Lucky AW
Cell Transplant 2019 Sep-Oct;28(9-10):1242-1256. Epub 2019 Jul 4 doi: 10.1177/0963689719857657. PMID: 31271052Free PMC Article
Diagnosis and clinical features of epidermolysis bullosa acquisita.
Caux F
Dermatol Clin 2011 Jul;29(3):485-91, x. doi: 10.1016/j.det.2011.03.017. PMID: 21605816
Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa.
Christiano AM, Suga Y, Greenspan DS, Ogawa H, Uitto J
J Clin Invest 1995 Mar;95(3):1328-34. doi: 10.1172/JCI117783. PMID: 7883979Free PMC Article
Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa.
Christiano AM, Anhalt G, Gibbons S, Bauer EA, Uitto J
Genomics 1994 May 1;21(1):160-8. doi: 10.1006/geno.1994.1238. PMID: 8088783

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