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Quoted phrase not found in phrase index: "Abnormal cutaneous collagen fibril morphology"
Page 1
Diagnosis and clinical features of epidermolysis bullosa acquisita.
Caux F. Caux F. Dermatol Clin. 2011 Jul;29(3):485-91, x. doi: 10.1016/j.det.2011.03.017. Dermatol Clin. 2011. PMID: 21605816 Review.
Epidermolysis bullosa acquisita (EBA) is a rare autoimmune subepidermal blistering disease characterized by immune deposits on anchoring fibrils of cutaneous and mucosal basement membrane zones. It is due to circulating antibodies directed to type VII collagen …
Epidermolysis bullosa acquisita (EBA) is a rare autoimmune subepidermal blistering disease characterized by immune deposits on anchoring …
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. Syx D, et al. Hum Mol Genet. 2019 Jun 1;28(11):1853-1864. doi: 10.1093/hmg/ddz024. Hum Mol Genet. 2019. PMID: 30668708
Using whole exome sequencing, we identified novel bi-allelic AEBP1 variants in two unrelated adult patients, previously diagnosed with an undefined EDS type, which shows important clinical resemblance to several other EDS subtypes. Our patients present with similar cutaneous …
Using whole exome sequencing, we identified novel bi-allelic AEBP1 variants in two unrelated adult patients, previously diagnosed with an un …
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. Mahajan R, et al. Clin Exp Dermatol. 2021 Jun;46(4):795-799. doi: 10.1111/ced.14557. Epub 2021 Feb 24. Clin Exp Dermatol. 2021. PMID: 33625737
A 5-year-old boy presented with generalized cutaneous erosions, severe scarring, depigmentation and contractures affecting major joints. ...Electron microscopy revealed a split in the sublamina densa with the absence of anchoring fibrils, suggestive of dystrophic ep …
A 5-year-old boy presented with generalized cutaneous erosions, severe scarring, depigmentation and contractures affecting major join …
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. McElroy A, et al. J Vet Intern Med. 2023 Sep-Oct;37(5):1716-1724. doi: 10.1111/jvim.16805. Epub 2023 Aug 18. J Vet Intern Med. 2023. PMID: 37594181 Free PMC article.
Criteria defining variant pathogenicity were examined including human disease variant databases. RESULTS: Histology showed sparse, disorganized collagen and an increase in cutaneous mast cells. Electron microscopy identified ultrastructural defects commonly s …
Criteria defining variant pathogenicity were examined including human disease variant databases. RESULTS: Histology showed sparse, di …
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. Wong J, et al. Int J Surg Pathol. 2022 Feb;30(1):33-38. doi: 10.1177/10668969211020504. Epub 2021 May 24. Int J Surg Pathol. 2022. PMID: 34029148
Histopathological analysis showed a diffuse myxoid stroma admixed with scant collagen fibrils. Thin-walled and branching blood vessels were prominent, with a mild perivascular lymphocytic infiltrate. ...Among our differential of myxoid lesions of the vulva, we ultim …
Histopathological analysis showed a diffuse myxoid stroma admixed with scant collagen fibrils. Thin-walled and branching blood …
Detection of anti-type VII collagen IgE antibodies in epidermolysis bullosa acquisita.
Koga H, Teye K, Yamashita K, Ishii N, Tsuruta D, Nakama T. Koga H, et al. Br J Dermatol. 2019 May;180(5):1107-1113. doi: 10.1111/bjd.17310. Epub 2018 Dec 27. Br J Dermatol. 2019. PMID: 30311191
BACKGROUND: Epidermolysis bullosa acquisita (EBA) is a rare pemphigoid disease involving autoantibodies to type VII collagen (COL7), a major structural component of anchoring fibrils. IgE autoantibodies to type XVII collagen (BP180) have been identified in bu …
BACKGROUND: Epidermolysis bullosa acquisita (EBA) is a rare pemphigoid disease involving autoantibodies to type VII collagen (COL7), …
A Japanese case of Kindler syndrome.
Suga Y, Tsuboi R, Hashimoto Y, Yaguchi H, Ogawa H. Suga Y, et al. Int J Dermatol. 2000 Apr;39(4):284-6. doi: 10.1046/j.1365-4362.2000.00962.x. Int J Dermatol. 2000. PMID: 10809978
The formation of blisters ceased after the age of 15 years, but a generalized progressive poikiloderma then appeared with accompanying cutaneous atrophy of the skin of the neck, trunk, and extremities (Fig. 1b). ...Pigment was also present in the upper epidermis. To rule o …
The formation of blisters ceased after the age of 15 years, but a generalized progressive poikiloderma then appeared with accompanying cu …
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. Hausser I, et al. Hum Genet. 1991 Oct;87(6):693-700. doi: 10.1007/BF00201728. Hum Genet. 1991. PMID: 1937472
The ubiquitous elastic fibers in other organs and arteries may be similarly involved. Moreover, there is co-involvement of collagen fibrils at the electron microscopical level. The three adolescent siblings did not show any clinical PXE symptoms. ...Dermal connectiv …
The ubiquitous elastic fibers in other organs and arteries may be similarly involved. Moreover, there is co-involvement of collagen …
Scleroderma-like indurations involving fascias: an abortive form of congenital fascial dystrophy (Stiff skin syndrome).
Jablonska S, Blaszczyk M. Jablonska S, et al. Pediatr Dermatol. 2000 Mar-Apr;17(2):105-10. doi: 10.1046/j.1525-1470.2000.01724.x. Pediatr Dermatol. 2000. PMID: 10792797
The fourth patient showed some similarity to profound morphea with no cutaneous involvement. Recognition of atypical or abortive cases of congenital fascial dystrophy, which is probably a variant of heterogeneous stiff skin syndrome involving exclusively fascia, is …
The fourth patient showed some similarity to profound morphea with no cutaneous involvement. Recognition of atypical or abortive case …