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Epidermolysis bullosa, junctional 4, intermediate(JEB4; GABEB)

MedGen UID:
382015
Concept ID:
C2608084
Disease or Syndrome
Synonyms: EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN; EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, NON-HERLITZ TYPE; Epidermolysis bullosa, junctional, localisata variant
 
Gene (location): COL17A1 (10q25.1)
 
Monarch Initiative: MONDO:0030750
OMIM®: 619787

Clinical features

From HPO
Dental enamel pits
MedGen UID:
395958
Concept ID:
C1860711
Finding
The presence of small depressions in the dental enamel.
Carious teeth
MedGen UID:
8288
Concept ID:
C0011334
Disease or Syndrome
Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.
Scarring alopecia of scalp
MedGen UID:
812631
Concept ID:
C3806301
Finding
Nail dystrophy
MedGen UID:
66368
Concept ID:
C0221260
Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Abnormal blistering of the skin
MedGen UID:
412159
Concept ID:
C2132198
Finding
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
Dystrophic fingernails
MedGen UID:
764340
Concept ID:
C3551426
Finding
The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate.
Lamina lucida cleavage
MedGen UID:
867365
Concept ID:
C4021730
Finding
The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin.
Macular hyperpigmented dermopathy
MedGen UID:
870439
Concept ID:
C4024885
Anatomical Abnormality

Recent clinical studies

Etiology

Zhang L, Wang S, Chen Q, Xiang L
J Dermatolog Treat 2023 Dec;34(1):2253943. Epub 2023 Nov 15 doi: 10.1080/09546634.2023.2253943. PMID: 37968922
Gear R, Poke G, Neas K, Finnigan J, Cassidy S, Forsyth D, Blishen M, Purvis D
Australas J Dermatol 2022 Feb;63(1):62-67. Epub 2021 Dec 14 doi: 10.1111/ajd.13762. PMID: 34905622
Robertson SJ, Orrin E, Lakhan MK, O'Sullivan G, Felton J, Robson A, Greenblatt DT, Bernardis C, McGrath JA, Martinez AE, Mellerio JE
Acta Derm Venereol 2021 Aug 24;101(8):adv00523. doi: 10.2340/00015555-3875. PMID: 34230977Free PMC Article
McMillan JR, McGrath JA, Tidman MJ, Eady RA
J Invest Dermatol 1998 Feb;110(2):132-7. doi: 10.1046/j.1523-1747.1998.00102.x. PMID: 9457907

Diagnosis

Gear R, Poke G, Neas K, Finnigan J, Cassidy S, Forsyth D, Blishen M, Purvis D
Australas J Dermatol 2022 Feb;63(1):62-67. Epub 2021 Dec 14 doi: 10.1111/ajd.13762. PMID: 34905622
Robertson SJ, Orrin E, Lakhan MK, O'Sullivan G, Felton J, Robson A, Greenblatt DT, Bernardis C, McGrath JA, Martinez AE, Mellerio JE
Acta Derm Venereol 2021 Aug 24;101(8):adv00523. doi: 10.2340/00015555-3875. PMID: 34230977Free PMC Article
Condorelli AG, Fortugno P, Cianfarani F, Proto V, Di Zenzo G, Didona B, Zambruno G, Castiglia D
Br J Dermatol 2018 Jun;178(6):1416-1422. Epub 2018 Feb 22 doi: 10.1111/bjd.15690. PMID: 28561256
Moss C, Wong A, Davies P
Br J Dermatol 2009 May;160(5):1057-65. doi: 10.1111/j.1365-2133.2009.09041.x. PMID: 19434791

Therapy

Mosallaei D, Hao M, Antaya RJ, Levian B, Kwong A, Cogan J, Hamilton C, Schwieger-Briel A, Tan C, Tang X, Woodley DT, Chen M
JAMA Dermatol 2022 Apr 1;158(4):366-374. doi: 10.1001/jamadermatol.2021.5992. PMID: 35234826Free PMC Article

Prognosis

Mosallaei D, Hao M, Antaya RJ, Levian B, Kwong A, Cogan J, Hamilton C, Schwieger-Briel A, Tan C, Tang X, Woodley DT, Chen M
JAMA Dermatol 2022 Apr 1;158(4):366-374. doi: 10.1001/jamadermatol.2021.5992. PMID: 35234826Free PMC Article
Robertson SJ, Orrin E, Lakhan MK, O'Sullivan G, Felton J, Robson A, Greenblatt DT, Bernardis C, McGrath JA, Martinez AE, Mellerio JE
Acta Derm Venereol 2021 Aug 24;101(8):adv00523. doi: 10.2340/00015555-3875. PMID: 34230977Free PMC Article
Condorelli AG, Fortugno P, Cianfarani F, Proto V, Di Zenzo G, Didona B, Zambruno G, Castiglia D
Br J Dermatol 2018 Jun;178(6):1416-1422. Epub 2018 Feb 22 doi: 10.1111/bjd.15690. PMID: 28561256
Selcen D, Juel VC, Hobson-Webb LD, Smith EC, Stickler DE, Bite AV, Ohno K, Engel AG
Neurology 2011 Jan 25;76(4):327-36. doi: 10.1212/WNL.0b013e31820882bd. PMID: 21263134Free PMC Article

Clinical prediction guides

Mosallaei D, Hao M, Antaya RJ, Levian B, Kwong A, Cogan J, Hamilton C, Schwieger-Briel A, Tan C, Tang X, Woodley DT, Chen M
JAMA Dermatol 2022 Apr 1;158(4):366-374. doi: 10.1001/jamadermatol.2021.5992. PMID: 35234826Free PMC Article
Robertson SJ, Orrin E, Lakhan MK, O'Sullivan G, Felton J, Robson A, Greenblatt DT, Bernardis C, McGrath JA, Martinez AE, Mellerio JE
Acta Derm Venereol 2021 Aug 24;101(8):adv00523. doi: 10.2340/00015555-3875. PMID: 34230977Free PMC Article
Condorelli AG, Fortugno P, Cianfarani F, Proto V, Di Zenzo G, Didona B, Zambruno G, Castiglia D
Br J Dermatol 2018 Jun;178(6):1416-1422. Epub 2018 Feb 22 doi: 10.1111/bjd.15690. PMID: 28561256
Selcen D, Juel VC, Hobson-Webb LD, Smith EC, Stickler DE, Bite AV, Ohno K, Engel AG
Neurology 2011 Jan 25;76(4):327-36. doi: 10.1212/WNL.0b013e31820882bd. PMID: 21263134Free PMC Article
Moss C, Wong A, Davies P
Br J Dermatol 2009 May;160(5):1057-65. doi: 10.1111/j.1365-2133.2009.09041.x. PMID: 19434791

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