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Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive(EBS2D)

MedGen UID:
1794224
Concept ID:
C5562014
Disease or Syndrome
Synonyms: EBS2D; EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE
 
Gene (location): KRT5 (12q13.13)
 
Monarch Initiative: MONDO:0030535
OMIM®: 619599

Disease characteristics

Excerpted from the GeneReview: Epidermolysis Bullosa Simplex
Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy. [from GeneReviews]
Authors:
Jodi Y So  |  Joyce Teng   view full author information

Additional description

From OMIM
Autosomal recessive generalized intermediate or severe epidermolysis bullosa simplex 2D (EBS2D) is characterized by widespread intraepidermal skin blistering and erosions from birth (summary by Vahidnezhad et al., 2019). For a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A (131760).  http://www.omim.org/entry/619599

Clinical features

From HPO
Mitten deformity
MedGen UID:
369963
Concept ID:
C1969236
Congenital Abnormality
Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a "mitten" hand deformity.
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Pectus carinatum
MedGen UID:
57643
Concept ID:
C0158731
Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Recurrent upper respiratory tract infections
MedGen UID:
154380
Concept ID:
C0581381
Disease or Syndrome
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
Sepsis
MedGen UID:
48626
Concept ID:
C0036690
Disease or Syndrome
Systemic inflammatory response to infection.
Oral mucosal blisters
MedGen UID:
208888
Concept ID:
C0853945
Sign or Symptom
Blisters arising in the mouth.
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.

Professional guidelines

PubMed

van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ
Orphanet J Rare Dis 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2. PMID: 29025426Free PMC Article
Hopp K, Cogal AG, Bergstralh EJ, Seide BM, Olson JB, Meek AM, Lieske JC, Milliner DS, Harris PC; Rare Kidney Stone Consortium
J Am Soc Nephrol 2015 Oct;26(10):2559-70. Epub 2015 Feb 2 doi: 10.1681/ASN.2014070698. PMID: 25644115Free PMC Article
Singh S, Bittner V
Curr Atheroscler Rep 2015;17(2):482. doi: 10.1007/s11883-014-0482-5. PMID: 25612857

Recent clinical studies

Etiology

Hon KL, Chu S, Leung AKC
Curr Pediatr Rev 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. PMID: 34036913
Klopstock T, Priglinger C, Yilmaz A, Kornblum C, Distelmaier F, Prokisch H
Dtsch Arztebl Int 2021 Nov 5;118(44):741-748. doi: 10.3238/arztebl.m2021.0251. PMID: 34158150Free PMC Article
Wallmeier J, Nielsen KG, Kuehni CE, Lucas JS, Leigh MW, Zariwala MA, Omran H
Nat Rev Dis Primers 2020 Sep 17;6(1):77. doi: 10.1038/s41572-020-0209-6. PMID: 32943623
Radlović N
Srp Arh Celok Lek 2012 Mar-Apr;140(3-4):244-9. PMID: 22650116
Harteveld CL, Higgs DR
Orphanet J Rare Dis 2010 May 28;5:13. doi: 10.1186/1750-1172-5-13. PMID: 20507641Free PMC Article

Diagnosis

Hon KL, Chu S, Leung AKC
Curr Pediatr Rev 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. PMID: 34036913
Klopstock T, Priglinger C, Yilmaz A, Kornblum C, Distelmaier F, Prokisch H
Dtsch Arztebl Int 2021 Nov 5;118(44):741-748. doi: 10.3238/arztebl.m2021.0251. PMID: 34158150Free PMC Article
Radlović N
Srp Arh Celok Lek 2012 Mar-Apr;140(3-4):244-9. PMID: 22650116
Harteveld CL, Higgs DR
Orphanet J Rare Dis 2010 May 28;5:13. doi: 10.1186/1750-1172-5-13. PMID: 20507641Free PMC Article
Stark Z, Savarirayan R
Orphanet J Rare Dis 2009 Feb 20;4:5. doi: 10.1186/1750-1172-4-5. PMID: 19232111Free PMC Article

Therapy

Lv J, Wang H, Cheng X, Chen Y, Wang D, Zhang L, Cao Q, Tang H, Hu S, Gao K, Xun M, Wang J, Wang Z, Zhu B, Cui C, Gao Z, Guo L, Yu S, Jiang L, Yin Y, Zhang J, Chen B, Wang W, Chai R, Chen ZY, Li H, Shu Y
Lancet 2024 May 25;403(10441):2317-2325. Epub 2024 Jan 24 doi: 10.1016/S0140-6736(23)02874-X. PMID: 38280389
Elshafey MA, Abdrabo MS, Elnaggar RK
J Musculoskelet Neuronal Interact 2022 Jun 1;22(2):172-178. PMID: 35642697Free PMC Article
Skokowa J, Dale DC, Touw IP, Zeidler C, Welte K
Nat Rev Dis Primers 2017 Jun 8;3:17032. doi: 10.1038/nrdp.2017.32. PMID: 28593997Free PMC Article
El-Maouche D, Arlt W, Merke DP
Lancet 2017 Nov 11;390(10108):2194-2210. Epub 2017 May 30 doi: 10.1016/S0140-6736(17)31431-9. PMID: 28576284
Lunn MR, Wang CH
Lancet 2008 Jun 21;371(9630):2120-33. doi: 10.1016/S0140-6736(08)60921-6. PMID: 18572081

Prognosis

Hon KL, Chu S, Leung AKC
Curr Pediatr Rev 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. PMID: 34036913
El-Maouche D, Arlt W, Merke DP
Lancet 2017 Nov 11;390(10108):2194-2210. Epub 2017 May 30 doi: 10.1016/S0140-6736(17)31431-9. PMID: 28576284
McGovern MM, Avetisyan R, Sanson BJ, Lidove O
Orphanet J Rare Dis 2017 Feb 23;12(1):41. doi: 10.1186/s13023-017-0572-x. PMID: 28228103Free PMC Article
Kousi M, Lehesjoki AE, Mole SE
Hum Mutat 2012 Jan;33(1):42-63. Epub 2011 Nov 16 doi: 10.1002/humu.21624. PMID: 21990111
Kulkarni ML, Balaji MD, Kulkarni AM, Sushanth S, Kulkarni BM
Indian J Pediatr 2007 Dec;74(12):1113-5. doi: 10.1007/s12098-007-0209-5. PMID: 18174649

Clinical prediction guides

Elshafey MA, Abdrabo MS, Elnaggar RK
J Musculoskelet Neuronal Interact 2022 Jun 1;22(2):172-178. PMID: 35642697Free PMC Article
Cornelis SS, Runhart EH, Bauwens M, Corradi Z, De Baere E, Roosing S, Haer-Wigman L, Dhaenens CM, Vulto-van Silfhout AT, Cremers FPM
Am J Hum Genet 2022 Mar 3;109(3):498-507. Epub 2022 Feb 3 doi: 10.1016/j.ajhg.2022.01.008. PMID: 35120629Free PMC Article
Hon KL, Chu S, Leung AKC
Curr Pediatr Rev 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. PMID: 34036913
Burgmaier K, Brinker L, Erger F, Beck BB, Benz MR, Bergmann C, Boyer O, Collard L, Dafinger C, Fila M, Kowalewska C, Lange-Sperandio B, Massella L, Mastrangelo A, Mekahli D, Miklaszewska M, Ortiz-Bruechle N, Patzer L, Prikhodina L, Ranchin B, Ranguelov N, Schild R, Seeman T, Sever L, Sikora P, Szczepanska M, Teixeira A, Thumfart J, Uetz B, Weber LT, Wühl E, Zerres K; ESCAPE Study group; GPN study group, Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium
Kidney Int 2021 Sep;100(3):650-659. Epub 2021 Apr 30 doi: 10.1016/j.kint.2021.04.019. PMID: 33940108
Harteveld CL, Higgs DR
Orphanet J Rare Dis 2010 May 28;5:13. doi: 10.1186/1750-1172-5-13. PMID: 20507641Free PMC Article

Recent systematic reviews

Vitali C, Bajaj A, Nguyen C, Schnall J, Chen J, Stylianou K, Rader DJ, Cuchel M
J Lipid Res 2022 Mar;63(3):100169. Epub 2022 Jan 20 doi: 10.1016/j.jlr.2022.100169. PMID: 35065092Free PMC Article
Lak R, Yazdizadeh B, Davari M, Nouhi M, Kelishadi R
Cochrane Database Syst Rev 2020 Jun 22;6(6):CD012272. doi: 10.1002/14651858.CD012272.pub3. PMID: 32567677Free PMC Article
Lak R, Yazdizadeh B, Davari M, Nouhi M, Kelishadi R
Cochrane Database Syst Rev 2017 Dec 23;12(12):CD012272. doi: 10.1002/14651858.CD012272.pub2. PMID: 29274129Free PMC Article
Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C
Orphanet J Rare Dis 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. PMID: 25874378Free PMC Article
Siddiq S, Clark A, Mumford A
Haemophilia 2011 Sep;17(5):e858-69. Epub 2011 Apr 4 doi: 10.1111/j.1365-2516.2011.02516.x. PMID: 21457404

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