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Abnormal cutaneous collagen fibril morphology

MedGen UID:: 1615320
•Concept ID:: C4531073
•: Anatomical Abnormality

HPO:	HP:0031512

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal cutaneous collagen fibril morphology

Phenotypic abnormality
- Abnormality of the integument
  - Abnormality of the skin
    - Abnormal skin morphology
      - Abnormal cutaneous collagen fibril morphology
        Cauliflower deformity of dermal collagen fibrils
        Decreased dermal collagen
        Intracellular accumulation of collagen VII
        Luse bodies
        Reduced epidermal collagen IV alpha 5 chain staining
        Reduced lamina lucida anchoring filament density
        Reduced reticular lamina anchoring fibril density

Recent clinical studies

Etiology

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: 37594181 Free 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: 31271052 Free PMC Article

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

Mutation analysis and molecular genetics of epidermolysis bullosa.

Pulkkinen L, Uitto J
Matrix Biol 1999 Feb;18(1):29-42. doi: 10.1016/s0945-053x(98)00005-5. PMID: 10367729

See all (12)

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: 37594181 Free PMC Article

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

A Japanese case of Kindler syndrome.

Suga Y, Tsuboi R, Hashimoto Y, Yaguchi H, Ogawa H
Int J Dermatol 2000 Apr;39(4):284-6. doi: 10.1046/j.1365-4362.2000.00962.x. PMID: 10809978

See all (9)

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: 20818854 Free PMC Article

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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

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Clinical prediction guides

Alternative splicing and intron retention: Their profiles and roles in cutaneous fibrosis of systemic sclerosis.

Xie S, Bao D, Xiao Y, Li H, Guo M, Dai B, Liu S, Huang J, Li M, Ding L, Meng Q, Lv CL, Distler JHW, Luo H, Zhu H
J Autoimmun 2024 Dec;149:103306. Epub 2024 Sep 12 doi: 10.1016/j.jaut.2024.103306. PMID: 39265192

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: 37594181 Free PMC Article

Collagen VII Expression Is Required in Both Keratinocytes and Fibroblasts for Anchoring Fibril Formation in Bilayer Engineered Skin Substitutes.

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

An unusually large human eye with abnormal scleral collagen.

Virgilio LA, Williams RJ, Klintworth GK
Arch Ophthalmol 1976 Jan;94(1):101-5. doi: 10.1001/archopht.1976.03910030047012. PMID: 1247400

See all (12)