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Epidermolysis bullosa simplex with nail dystrophy(EBS5D)

MedGen UID:
906476
Concept ID:
C4225309
Disease or Syndrome
Synonym: EBS5D
 
Gene (location): PLEC (8q24.3)
 
Monarch Initiative: MONDO:0014661
OMIM®: 616487

Definition

Autosomal recessive generalized intermediate epidermolysis bullosa simplex 5D (EBS5D) is characterized by generalized skin blistering that heals with scarring and hyperpigmentation. Nail dystrophy is severe. Mucous membranes, heart, and muscle are spared (Gostynska et al., 2015). For a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A (131760). [from OMIM]

Clinical features

From HPO
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Pruritus
MedGen UID:
19534
Concept ID:
C0033774
Sign or Symptom
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
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.
Plantar hyperkeratosis
MedGen UID:
341658
Concept ID:
C1856954
Finding
Hyperkeratosis affecting the sole of the foot.
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.
Stratum basale cleavage
MedGen UID:
411295
Concept ID:
C2748755
Finding
Cleavage within the epidermal keratinocytes, which is the innermost layer of the epidermis and consists of proliferating cells that give rise to the outer layers of the epidermis.

Professional guidelines

PubMed

Irvine AD, McLean WH
Br J Dermatol 1999 May;140(5):815-28. doi: 10.1046/j.1365-2133.1999.02810.x. PMID: 10354017

Recent clinical studies

Etiology

Zrelski MM, Kustermann M, Winter L
Cells 2021 Sep 19;10(9) doi: 10.3390/cells10092480. PMID: 34572129Free PMC Article
McLean WH, Moore CB
Hum Mol Genet 2011 Oct 15;20(R2):R189-97. Epub 2011 Sep 2 doi: 10.1093/hmg/ddr379. PMID: 21890491
Ning CC, Chao SC, Uitto J, Shieh CC, Lee JY
J Formos Med Assoc 2001 Jun;100(6):407-11. PMID: 11480251
Corden LD, McLean WH
Exp Dermatol 1996 Dec;5(6):297-307. doi: 10.1111/j.1600-0625.1996.tb00133.x. PMID: 9028791
Niemi KM, Sommer H, Kero M, Kanerva L, Haltia M
Arch Dermatol 1988 Apr;124(4):551-4. PMID: 3355199

Diagnosis

Vishwanathan GB, Srinivasa M, Batrani M, Kubba A, Ghosh S, Gupta D, Jayashankar C, Rai A, Jangond A, Inamadar A, Hiremagalore R
Am J Med Genet A 2022 Aug;188(8):2454-2459. Epub 2022 May 17 doi: 10.1002/ajmg.a.62781. PMID: 35579050
El Darouti MA, El Hawary MS, Abdel Hay RM
Clin Exp Dermatol 2015 Jan;40(1):35-8. Epub 2014 Sep 23 doi: 10.1111/ced.12463. PMID: 25251718
Corden LD, McLean WH
Exp Dermatol 1996 Dec;5(6):297-307. doi: 10.1111/j.1600-0625.1996.tb00133.x. PMID: 9028791
Patrizi A, Di Lernia V, Neri I, Badiali De Giorgi L, Masi M
Pediatr Dermatol 1994 Dec;11(4):342-5. doi: 10.1111/j.1525-1470.1994.tb00102.x. PMID: 7899187
McGrath JA, Ishida-Yamamoto A, Tidman MJ, Heagerty AH, Schofield OM, Eady RA
Br J Dermatol 1992 May;126(5):421-30. doi: 10.1111/j.1365-2133.1992.tb11813.x. PMID: 1610681

Therapy

McLean WH, Moore CB
Hum Mol Genet 2011 Oct 15;20(R2):R189-97. Epub 2011 Sep 2 doi: 10.1093/hmg/ddr379. PMID: 21890491

Prognosis

Argyropoulou Z, Liu L, Ozoemena L, Branco CC, Senra R, Reis-Rego Â, Mota-Vieira L
BMC Dermatol 2018 Jan 20;18(1):1. doi: 10.1186/s12895-018-0069-x. PMID: 29352809Free PMC Article
Xiao SX, Feng YG, Ren XR, Tan SS, Li L, Wang JM, Shi YZ
J Invest Dermatol 2004 Apr;122(4):892-5. doi: 10.1111/j.0022-202X.2004.22408.x. PMID: 15102078
Shimizu H, Takizawa Y, Pulkkinen L, Murata S, Kawai M, Hachisuka H, Udono M, Uitto J, Nishikawa T
J Am Acad Dermatol 1999 Dec;41(6):950-6. doi: 10.1016/s0190-9622(99)70252-5. PMID: 10570379
Patrizi A, Di Lernia V, Neri I, Badiali De Giorgi L, Masi M
Pediatr Dermatol 1994 Dec;11(4):342-5. doi: 10.1111/j.1525-1470.1994.tb00102.x. PMID: 7899187
McGrath JA, Ishida-Yamamoto A, Tidman MJ, Heagerty AH, Schofield OM, Eady RA
Br J Dermatol 1992 May;126(5):421-30. doi: 10.1111/j.1365-2133.1992.tb11813.x. PMID: 1610681

Clinical prediction guides

Vishwanathan GB, Srinivasa M, Batrani M, Kubba A, Ghosh S, Gupta D, Jayashankar C, Rai A, Jangond A, Inamadar A, Hiremagalore R
Am J Med Genet A 2022 Aug;188(8):2454-2459. Epub 2022 May 17 doi: 10.1002/ajmg.a.62781. PMID: 35579050
Liu J, Wang L
Acta Dermatovenerol Croat 2021 Dec;29(3):164-166. PMID: 34990346
Argyropoulou Z, Liu L, Ozoemena L, Branco CC, Senra R, Reis-Rego Â, Mota-Vieira L
BMC Dermatol 2018 Jan 20;18(1):1. doi: 10.1186/s12895-018-0069-x. PMID: 29352809Free PMC Article
Xiao SX, Feng YG, Ren XR, Tan SS, Li L, Wang JM, Shi YZ
J Invest Dermatol 2004 Apr;122(4):892-5. doi: 10.1111/j.0022-202X.2004.22408.x. PMID: 15102078
Shimizu H, Takizawa Y, Pulkkinen L, Murata S, Kawai M, Hachisuka H, Udono M, Uitto J, Nishikawa T
J Am Acad Dermatol 1999 Dec;41(6):950-6. doi: 10.1016/s0190-9622(99)70252-5. PMID: 10570379

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