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Abnormal dermoepidermal junction morphology

MedGen UID:
1624957
•Concept ID:
C4531058
•
Anatomical Abnormality
HPO: HP:0031538

Definition

Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments. [from HPO]

Professional guidelines

PubMed

Systemic treatment of recessive dystrophic epidermolysis bullosa with mesenchymal stromal cells: a scoping review of the literature and conclusions for future clinical research.
Niebergall-Roth E, Dieter K, Frank MH, Kluth MA
J Dermatolog Treat 2024 Dec;35(1):2419931. Epub 2024 Nov 17 doi: 10.1080/09546634.2024.2419931. PMID: 39551482
Epidermal renewal during the treatment of atopic dermatitis lesions: A study coupling line-field confocal optical coherence tomography with artificial intelligence quantifications: LC-OCT reveals new biological markers of AD.
Le Blay H, Raynaud E, Bouayadi S, Rieux E, Rolland G, Saussine A, Jachiet M, Bouaziz JD, Lynch B
Skin Res Technol 2024 Sep;30(9):e13891. doi: 10.1111/srt.13891. PMID: 39305199Free PMC Article
Bullous systemic lupus erythematosus: a review and update to diagnosis and treatment.
Contestable JJ, Edhegard KD, Meyerle JH
Am J Clin Dermatol 2014 Dec;15(6):517-24. doi: 10.1007/s40257-014-0098-0. PMID: 25358414

Recent clinical studies

Etiology

Dynamic Optical Coherence Tomography Capillaroscopy: A New Imaging Tool in Autoimmune Connective Tissue Disease.
Ring HC, Themstrup L, Banzhaf CA, Jemec GB, Mogensen M
JAMA Dermatol 2016 Oct 1;152(10) doi: 10.1001/jamadermatol.2016.2027. PMID: 27366896
Immunofluorescence antigen mapping for hereditary epidermolysis bullosa.
Rao R, Mellerio J, Bhogal BS, Groves R
Indian J Dermatol Venereol Leprol 2012 Nov-Dec;78(6):692-7. doi: 10.4103/0378-6323.102358. PMID: 23075637
Epidermolysis bullosa acquisita.
Stein JA, Mikkilineni R
Dermatol Online J 2007 Jan 27;13(1):15. PMID: 17511948
The biomolecular and ultrastructural basis of epidermolysis bullosa.
Solovan C, Ciolan M, Olariu L
Acta Dermatovenerol Alp Pannonica Adriat 2005 Dec;14(4):127-35. PMID: 16435041
Sweat gland abnormalities in lichenoid dermatosis.
Akosa AB, Lampert IA
Histopathology 1991 Oct;19(4):345-9. doi: 10.1111/j.1365-2559.1991.tb00049.x. PMID: 1834538

Diagnosis

Bullous systemic lupus erythematosus: a review and update to diagnosis and treatment.
Contestable JJ, Edhegard KD, Meyerle JH
Am J Clin Dermatol 2014 Dec;15(6):517-24. doi: 10.1007/s40257-014-0098-0. PMID: 25358414
Immunofluorescence antigen mapping for hereditary epidermolysis bullosa.
Rao R, Mellerio J, Bhogal BS, Groves R
Indian J Dermatol Venereol Leprol 2012 Nov-Dec;78(6):692-7. doi: 10.4103/0378-6323.102358. PMID: 23075637
Immunofluorescence mapping for the diagnosis of epidermolysis bullosa.
Pohla-Gubo G, Cepeda-Valdes R, Hintner H
Dermatol Clin 2010 Apr;28(2):201-10, vii. doi: 10.1016/j.det.2009.12.005. PMID: 20447482
Epidermolysis bullosa acquisita.
Stein JA, Mikkilineni R
Dermatol Online J 2007 Jan 27;13(1):15. PMID: 17511948
Epidermolysis bullosa acquisita in childhood.
Callot-Mellot C, Bodemer C, Caux F, Bourgault-Villada I, Fraitag S, Goudié G, Heller M, de Prost Y, Prost C
Arch Dermatol 1997 Sep;133(9):1122-6. PMID: 9301589

Therapy

Intravenous allogeneic umbilical cord blood-derived mesenchymal stem cell therapy in recessive dystrophic epidermolysis bullosa patients.
Lee SE, Lee SJ, Kim SE, Kim K, Cho B, Roh K, Kim SC
JCI Insight 2021 Jan 25;6(2) doi: 10.1172/jci.insight.143606. PMID: 33491668Free PMC Article
Epidermolysis bullosa acquisita.
Stein JA, Mikkilineni R
Dermatol Online J 2007 Jan 27;13(1):15. PMID: 17511948
Bioheat transfer analysis of cryogen spray cooling during laser treatment of port wine stains.
Pfefer TJ, Smithies DJ, Milner TE, van Gemert MJ, Nelson JS, Welch AJ
Lasers Surg Med 2000;26(2):145-57. doi: 10.1002/(sici)1096-9101(2000)26:2<145::aid-lsm5>3.0.co;2-0. PMID: 10685087
Laryngeal manifestations of epidermolysis bullosa acquisita.
Hester JE, Arnstein DP, Woodley D
Arch Otolaryngol Head Neck Surg 1995 Sep;121(9):1042-4. doi: 10.1001/archotol.1995.01890090078015. PMID: 7646856
Epidermolysis bullosa acquisita in a 3 1/2-year-old girl.
Roger H, Machado P, Nicolas JF, D'Incan M, Prost C, Chevenet C, Kanitakis J, Ferrier MC, Chouvet B, Souteyrand P
J Am Acad Dermatol 1992 Nov;27(5 Pt 2):858-62. doi: 10.1016/0190-9622(92)70267-j. PMID: 1469146

Prognosis

In vivo confocal microscopy of dermoscopic suspicious lesions in patients with xeroderma pigmentosum: A cross-sectional study.
Rocha L, Ferreira PS, Avancini J, Lourenço S, de Freitas Barbosa C, Colacique C, Festa-Neto C
J Am Acad Dermatol 2020 Dec;83(6):1668-1673. Epub 2019 Dec 14 doi: 10.1016/j.jaad.2019.12.018. PMID: 31846715
Dynamic Optical Coherence Tomography Capillaroscopy: A New Imaging Tool in Autoimmune Connective Tissue Disease.
Ring HC, Themstrup L, Banzhaf CA, Jemec GB, Mogensen M
JAMA Dermatol 2016 Oct 1;152(10) doi: 10.1001/jamadermatol.2016.2027. PMID: 27366896
Epidermolysis bullosa acquisita.
Stein JA, Mikkilineni R
Dermatol Online J 2007 Jan 27;13(1):15. PMID: 17511948
Bioheat transfer analysis of cryogen spray cooling during laser treatment of port wine stains.
Pfefer TJ, Smithies DJ, Milner TE, van Gemert MJ, Nelson JS, Welch AJ
Lasers Surg Med 2000;26(2):145-57. doi: 10.1002/(sici)1096-9101(2000)26:2<145::aid-lsm5>3.0.co;2-0. PMID: 10685087
Epidermolysis bullosa acquisita in childhood.
Callot-Mellot C, Bodemer C, Caux F, Bourgault-Villada I, Fraitag S, Goudié G, Heller M, de Prost Y, Prost C
Arch Dermatol 1997 Sep;133(9):1122-6. PMID: 9301589

Clinical prediction guides

Intravenous allogeneic umbilical cord blood-derived mesenchymal stem cell therapy in recessive dystrophic epidermolysis bullosa patients.
Lee SE, Lee SJ, Kim SE, Kim K, Cho B, Roh K, Kim SC
JCI Insight 2021 Jan 25;6(2) doi: 10.1172/jci.insight.143606. PMID: 33491668Free PMC Article
Dynamic Optical Coherence Tomography Capillaroscopy: A New Imaging Tool in Autoimmune Connective Tissue Disease.
Ring HC, Themstrup L, Banzhaf CA, Jemec GB, Mogensen M
JAMA Dermatol 2016 Oct 1;152(10) doi: 10.1001/jamadermatol.2016.2027. PMID: 27366896
Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family.
Ouragini H, Cherif F, Kassar S, Floriddia G, Pascucci M, Daoud W, Osman-Dhahri AB, Boubaker S, Castiglia D, Abdelhak S
J Dermatol Sci 2009 May;54(2):114-20. Epub 2009 Mar 3 doi: 10.1016/j.jdermsci.2009.01.006. PMID: 19261445
Epidermolysis bullosa acquisita in childhood.
Callot-Mellot C, Bodemer C, Caux F, Bourgault-Villada I, Fraitag S, Goudié G, Heller M, de Prost Y, Prost C
Arch Dermatol 1997 Sep;133(9):1122-6. PMID: 9301589
Ultrastructural findings in epidermolysis bullosa.
Smith LT
Arch Dermatol 1993 Dec;129(12):1578-84. PMID: 7504435

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