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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

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
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

Recent clinical studies

Etiology

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
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
An unusual presentation of mucous membrane pemphigoid.
De D, Dogra S, Saikia UN, Kanwar AJ
Skinmed 2008 Jan-Feb;7(1):45-7. doi: 10.1111/j.1540-9740.2007.07153.x. PMID: 18174805
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
Mechanism-oriented assessment of isotretinoin in chronic or subacute cutaneous lupus erythematosus.
Newton RC, Jorizzo JL, Solomon AR Jr, Sanchez RL, Daniels JC, Bell JD, Cavallo T
Arch Dermatol 1986 Feb;122(2):170-6. PMID: 3511858

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
Recessive dystrophic epidermolysis bullosa results in painful small fibre neuropathy.
von Bischhoffshausen S, Ivulic D, Alvarez P, Schuffeneger VC, Idiaquez J, Fuentes C, Morande P, Fuentes I, Palisson F, Bennett DLH, Calvo M
Brain 2017 May 1;140(5):1238-1251. doi: 10.1093/brain/awx069. PMID: 28369282Free 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
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

Clinical prediction guides

Characterisation of the pathophysiology of neuropathy and sensory dysfunction in a mouse model of recessive dystrophic epidermolysis bullosa.
Schmidt D, Díaz P, Muñoz D, Espinoza F, Nystrom A, Fuentes I, Ezquer M, Bennett DL, Calvo M
Pain 2022 Oct 1;163(10):2052-2060. Epub 2022 Jan 28 doi: 10.1097/j.pain.0000000000002599. PMID: 35311752
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
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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