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Skin erosion

MedGen UID:
854383
Concept ID:
C3887524
Disease or Syndrome
Synonym: Skin erosions
SNOMED CT: Erosion of skin (93448009)
 
HPO: HP:0200041

Definition

A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed. [from HPO]

Conditions with this feature

Lipid proteinosis
MedGen UID:
6112
Concept ID:
C0023795
Disease or Syndrome
Lipoid proteinosis (LP) is characterized by deposition of hyaline-like material in various tissues resulting in a hoarse voice from early infancy, vesicles and hemorrhagic crusts in the mouth and on the face and extremities, verrucous and keratotic cutaneous lesions on extensor surfaces (especially the elbows), and moniliform blepharosis (multiple beaded papules along the eyelid margins and inner canthus). Extracutaneous manifestations may include epilepsy, neuropsychiatric disorders, spontaneous CNS hemorrhage, and asymptomatic multiple yellowish nodules throughout the gastrointestinal tract. Generally, the disease course is chronic and fluctuating. Males and females are affected equally. Affected individuals have a normal life span unless they experience laryngeal obstruction.
Annular epidermolytic ichthyosis
MedGen UID:
334410
Concept ID:
C1843463
Disease or Syndrome
A rare clinical variant of epidermolytic ichthyosis, with manifestations of blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. It has been reported in less than 10 families. The disease is caused by mutations in the KRT1 (12q11-q13) and KRT10 (17q21-q23) genes, encoding keratins 1 and 10 respectively. These mutations impair keratin filament formation and weaken the structural stability of the keratinocyte cytoskeleton. Transmission is autosomal dominant.
Lethal acantholytic epidermolysis bullosa
MedGen UID:
400622
Concept ID:
C1864826
Disease or Syndrome
Lethal acantholytic epidermolysis bullosa (EBLA) is an autosomal recessive skin disorder characterized by extensive epidermal dislodgment, universal alopecia, and anonychia. Cardiac involvement may be present. Death occurs in the neonatal period (summary by Hobbs et al., 2010).
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
MedGen UID:
934642
Concept ID:
C4310675
Disease or Syndrome
Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions (summary by Kremer et al., 2016). Genetic Heterogeneity of PEBEL See also PEBEL2 (618321), caused by mutation in the NAXD gene (615910) on chromosome 13q34.
Lethal tight skin contracture syndrome
MedGen UID:
1812447
Concept ID:
C5676878
Disease or Syndrome
Restrictive dermopathy is a rare, lethal genodermatosis with characteristic manifestations that are easily recognizable at birth: thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs can include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life (summary by Smigiel et al., 2010). Genetic Heterogeneity of Restrictive Dermopathy See also RSMD2 (619793), caused by mutation in the LMNA gene (150330) on chromosome 1q22.
Ichthyosis, annular epidermolytic, 2
MedGen UID:
1824037
Concept ID:
C5774264
Disease or Syndrome
Annular epidermolytic ichthyosis-2 (AEI2) is characterized by erythema and blistering of skin at birth that improves without scarring, as well as palmoplantar keratoderma. Some patients experience intermittent severe flares of generalized annular and polycyclic erythematous scaling plaques (Sybert et al., 1999; Zaki et al., 2018). For a discussion of genetic heterogeneity of AEI, see AEI1 (607602).

Professional guidelines

PubMed

Massimi L, Di Rocco C
Minerva Pediatr 2013 Aug;65(4):417-25. PMID: 24051975
Baizabal Carvallo JF, Simpson R, Jankovic J
Mov Disord 2011 Jul;26(8):1398-406. Epub 2011 Jun 28 doi: 10.1002/mds.23800. PMID: 21714001
Patel GK
Expert Rev Anti Infect Ther 2004 Aug;2(4):575-87. doi: 10.1586/14787210.2.4.575. PMID: 15482221

Recent clinical studies

Etiology

Arda MS, Tekkanat B, Ilhan H
J Laparoendosc Adv Surg Tech A 2021 May;31(5):584-588. Epub 2021 Feb 19 doi: 10.1089/lap.2020.0320. PMID: 33605779
Hanada M, Nishikino S, Hotta K, Furuhashi H, Hoshino H, Matsuyama Y
Knee Surg Sports Traumatol Arthrosc 2019 Jul;27(7):2322-2327. Epub 2019 Apr 9 doi: 10.1007/s00167-019-05498-z. PMID: 30968239
Han SP, Fu LS, Chen LJ
Int J Rheum Dis 2019 Jan;22(1):121-131. Epub 2018 Nov 8 doi: 10.1111/1756-185X.13407. PMID: 30411519
Connolly KL, Albertini JG, Miller CJ, Ozog DM
Dermatol Surg 2015 Mar;41(3):406-10. doi: 10.1097/DSS.0000000000000313. PMID: 25738444
Massimi L, Di Rocco C
Minerva Pediatr 2013 Aug;65(4):417-25. PMID: 24051975

Diagnosis

Stapińska-Syniec A, Sobstyl M, Paskal W
Clin Neurol Neurosurg 2023 Feb;225:107571. Epub 2022 Dec 23 doi: 10.1016/j.clineuro.2022.107571. PMID: 36608467
Schachner L, Andriessen A, Benjamin L, Bree A, Lechman P, Pinera-Llano A, Kircik L, Hebert A
J Drugs Dermatol 2021 Nov 1;20(11):1195-1205. doi: 10.36849/jdd.6219. PMID: 34784132
Pedersen SH, Norager NH, Lilja-Cyron A, Juhler M
Childs Nerv Syst 2020 Jan;36(1):49-58. Epub 2019 Jul 15 doi: 10.1007/s00381-019-04271-4. PMID: 31309286
Han SP, Fu LS, Chen LJ
Int J Rheum Dis 2019 Jan;22(1):121-131. Epub 2018 Nov 8 doi: 10.1111/1756-185X.13407. PMID: 30411519
Patel GK
Expert Rev Anti Infect Ther 2004 Aug;2(4):575-87. doi: 10.1586/14787210.2.4.575. PMID: 15482221

Therapy

Oberheim-Bush NA, Shi W, McDermott MW, Grote A, Stindl J, Lustgarten L
J Neurooncol 2022 Jul;158(3):453-461. Epub 2022 May 31 doi: 10.1007/s11060-022-04033-4. PMID: 35639236Free PMC Article
Cabral AM, Pereira AA, Vieira MF, Pessôa BL, de Oliveira Andrade A
Neurosurg Rev 2022 Apr;45(2):1123-1134. Epub 2021 Oct 19 doi: 10.1007/s10143-021-01673-4. PMID: 34665369
Gao J, Wang L, Xia C, Yang X, Cao Z, Zheng L, Ko R, Shen C, Yang C, Cheng C
Int Wound J 2019 Oct;16(5):1103-1111. Epub 2019 Jun 17 doi: 10.1111/iwj.13161. PMID: 31207094Free PMC Article
Hanada M, Nishikino S, Hotta K, Furuhashi H, Hoshino H, Matsuyama Y
Knee Surg Sports Traumatol Arthrosc 2019 Jul;27(7):2322-2327. Epub 2019 Apr 9 doi: 10.1007/s00167-019-05498-z. PMID: 30968239
Hiratsuka J, Kamitani N, Tanaka R, Yoden E, Tokiya R, Suzuki M, Barth RF, Ono K
Cancer Commun (Lond) 2018 Jun 19;38(1):38. doi: 10.1186/s40880-018-0297-9. PMID: 29914570Free PMC Article

Prognosis

Bouwens van der Vlis TAM, van de Veerdonk MMGH, Ackermans L, Leentjens AFG, Janssen MLF, Kuijf ML, Schruers KRJ, Duits A, Gubler F, Kubben P, Temel Y
Neuromodulation 2022 Feb;25(2):296-304. doi: 10.1016/j.neurom.2021.12.011. PMID: 35125149
Gao J, Wang L, Xia C, Yang X, Cao Z, Zheng L, Ko R, Shen C, Yang C, Cheng C
Int Wound J 2019 Oct;16(5):1103-1111. Epub 2019 Jun 17 doi: 10.1111/iwj.13161. PMID: 31207094Free PMC Article
Han SP, Fu LS, Chen LJ
Int J Rheum Dis 2019 Jan;22(1):121-131. Epub 2018 Nov 8 doi: 10.1111/1756-185X.13407. PMID: 30411519
Zhou R, Ma Y, Liu W, Miao S, Zhang Y
World Neurosurg 2018 Sep;117:280-283. Epub 2018 Jun 7 doi: 10.1016/j.wneu.2018.05.224. PMID: 29886304
Bass J, Halton JM
Semin Pediatr Surg 2009 May;18(2):84-6. doi: 10.1053/j.sempedsurg.2009.02.004. PMID: 19348996

Clinical prediction guides

Bouwens van der Vlis TAM, van de Veerdonk MMGH, Ackermans L, Leentjens AFG, Janssen MLF, Kuijf ML, Schruers KRJ, Duits A, Gubler F, Kubben P, Temel Y
Neuromodulation 2022 Feb;25(2):296-304. doi: 10.1016/j.neurom.2021.12.011. PMID: 35125149
Arda MS, Tekkanat B, Ilhan H
J Laparoendosc Adv Surg Tech A 2021 May;31(5):584-588. Epub 2021 Feb 19 doi: 10.1089/lap.2020.0320. PMID: 33605779
Gao J, Wang L, Xia C, Yang X, Cao Z, Zheng L, Ko R, Shen C, Yang C, Cheng C
Int Wound J 2019 Oct;16(5):1103-1111. Epub 2019 Jun 17 doi: 10.1111/iwj.13161. PMID: 31207094Free PMC Article
Han SP, Fu LS, Chen LJ
Int J Rheum Dis 2019 Jan;22(1):121-131. Epub 2018 Nov 8 doi: 10.1111/1756-185X.13407. PMID: 30411519
Zhou R, Ma Y, Liu W, Miao S, Zhang Y
World Neurosurg 2018 Sep;117:280-283. Epub 2018 Jun 7 doi: 10.1016/j.wneu.2018.05.224. PMID: 29886304

Recent systematic reviews

Schachner L, Andriessen A, Benjamin L, Bree A, Lechman P, Pinera-Llano A, Kircik L, Hebert A
J Drugs Dermatol 2021 Nov 1;20(11):1195-1205. doi: 10.36849/jdd.6219. PMID: 34784132
Bullard AJ, Hutchison BC, Lee J, Chestek CA, Patil PG
Neuromodulation 2020 Jun;23(4):411-426. Epub 2019 Nov 20 doi: 10.1111/ner.13069. PMID: 31747103

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