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Epidermolysis bullosa simplex with mottled pigmentation(EBS2F)

MedGen UID:
140934
•Concept ID:
C0432316
•
Congenital Abnormality
Synonyms: EBS with mottled pigmentation; EBS2F; EPIDERMOLYSIS BULLOSA SIMPLEX 2F, WITH MOTTLED PIGMENTATION; SPECKLED HYPERPIGMENTATION WITH PUNCTATE PALMOPLANTAR KERATOSES AND CHILDHOOD BLISTERING; Speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering
SNOMED CT: Epidermolysis bullosa simplex with mottled pigmentation (254180002); Simple epidermolysis bullosa with mottled pigmentation (254180002)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Gene (location): KRT5 (12q13.13)
 
Monarch Initiative: MONDO:0007556
OMIM®: 131960
Orphanet: ORPHA79397

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]
Full text of GeneReview (by section):
Summary  |  GeneReview Scope  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
Authors:
Jodi Y So  |  Joyce Teng   view full author information

Additional description

From OMIM
Epidermolysis bullosa simplex-2F with mottled pigmentation (EBS2F) is characterized by generalized skin blistering of intermediate severity beginning at birth, with mottled or reticulate pigmentation developing gradually. Focal keratoses of palms and soles and dystrophic, thickened nails develop over time. Although a single pathologic mutation in the KRT5 gene (P25L; 148040.0009) typically causes this phenotype, EBS patients with mottled pigmentation with other mutations in KRT5 or in other genes have been reported (summary by Has et al., 2020). For a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A (131760).  http://www.omim.org/entry/131960

Clinical features

From HPO
Punctate palmoplantar hyperkeratosis
MedGen UID:
870406
•Concept ID:
C4024851
•
Disease or Syndrome
A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.
See: Feature record | Search on this feature
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.
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Nail dysplasia
MedGen UID:
331737
•Concept ID:
C1834405
•
Congenital Abnormality
The presence of developmental dysplasia of the nail.
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Mottled pigmentation of the trunk and proximal extremities
MedGen UID:
342031
•Concept ID:
C1851551
•
Finding
See: Feature record | Search on this feature
Discrete 2 to 5-mm hyper- and hypopigmented macules
MedGen UID:
342032
•Concept ID:
C1851552
•
Finding
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Hypoplastic fifth toenail
MedGen UID:
868713
•Concept ID:
C4023116
•
Anatomical Abnormality
Underdeveloped nails of the fifth toes.
See: Feature record | Search on this feature
Intra-epidermal blistering
MedGen UID:
1779880
•Concept ID:
C5539821
•
Finding
A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleavage occurs in the basal layer, which is the innermost layer of the epidermis and consists of a single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate and thereby produce new cells for other epidermal layers. As the cells move towards the upper layers of the epidermis they mature and eventually form cornified cells. The suprabasal cell layer lies directly above the basal layer and is composed of five to ten layers of cells.
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Epidermolysis bullosa simplex with mottled pigmentation in Orphanet.

Recent clinical studies

Etiology

Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations.
Turcan I, Pasmooij AM, Van den Akker PC, Lemmink H, Sinke RJ, Jonkman MF
JAMA Dermatol 2016 Oct 1;152(10):1137-1141. doi: 10.1001/jamadermatol.2016.2268. PMID: 27384765
A prospective, split-face, double-blinded, randomized study of the efficacy and safety of a fractional 1064-nm Q-switched Nd:YAG laser for photoaging-associated mottled pigmentation in Asian skin.
Won KH, Lee SH, Lee MH, Rhee DY, Yeo UC, Chang SE
J Cosmet Laser Ther 2016 Nov;18(7):381-386. Epub 2016 Jul 19 doi: 10.1080/14764172.2016.1191645. PMID: 27249461
A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation.
Irvine AD, McKenna KE, Jenkinson H, Hughes AE
J Invest Dermatol 1997 May;108(5):809-10. doi: 10.1111/1523-1747.ep12292263. PMID: 9129237
The genetic basis of epidermolysis bullosa simplex with mottled pigmentation.
Uttam J, Hutton E, Coulombe PA, Anton-Lamprecht I, Yu QC, Gedde-Dahl T Jr, Fine JD, Fuchs E
Proc Natl Acad Sci U S A 1996 Aug 20;93(17):9079-84. doi: 10.1073/pnas.93.17.9079. PMID: 8799157Free PMC Article

Diagnosis

Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations.
Turcan I, Pasmooij AM, Van den Akker PC, Lemmink H, Sinke RJ, Jonkman MF
JAMA Dermatol 2016 Oct 1;152(10):1137-1141. doi: 10.1001/jamadermatol.2016.2268. PMID: 27384765
Epidermolysis bullosa simplex with mottled pigmentation: a family report and review.
Echeverría-García B, Vicente A, Hernández Á, Mascaró JM, Colmenero I, Terrón A, Escámez MJ, del Río M, González-Enseñat MA, Torrelo A
Pediatr Dermatol 2013 Nov-Dec;30(6):e125-31. Epub 2012 May 29 doi: 10.1111/j.1525-1470.2012.01748.x. PMID: 22640275
Epidermolysis bullosa simplex with mottled pigmentation: a novel KRT14 mutation.
Gray C, Greenlaw SM, Alavian C, Wiss K
J Drugs Dermatol 2011 Aug;10(8):926-7. PMID: 21818518
Epidermolysis bullosa simplex with mottled pigmentation - mutation analysis proved the diagnosis in a four-generation pedigree.
Glàsz-Bóna A, Medvecz M, Virágh Z, Hatvani Z, Blazsek A, Kárpáti S
Eur J Dermatol 2010 Nov-Dec;20(6):698-700. Epub 2010 Oct 5 doi: 10.1684/ejd.2010.1080. PMID: 20923750
Recurrent p.N767S mutation in the ATP2A2 gene in a Japanese family with haemorrhagic Darier disease clinically mimicking epidermolysis bullosa simplex with mottled pigmentation.
Hamada T, Yasumoto S, Karashima T, Ishii N, Shimada H, Kawano Y, Imayama S, McGrath JA, Hashimoto T
Br J Dermatol 2007 Sep;157(3):605-8. Epub 2007 Jul 16 doi: 10.1111/j.1365-2133.2007.08086.x. PMID: 17635506

Therapy

A prospective, split-face, double-blinded, randomized study of the efficacy and safety of a fractional 1064-nm Q-switched Nd:YAG laser for photoaging-associated mottled pigmentation in Asian skin.
Won KH, Lee SH, Lee MH, Rhee DY, Yeo UC, Chang SE
J Cosmet Laser Ther 2016 Nov;18(7):381-386. Epub 2016 Jul 19 doi: 10.1080/14764172.2016.1191645. PMID: 27249461

Prognosis

A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.
Richardson ES, Lee JB, Hyde PH, Richard G
J Invest Dermatol 2006 Jan;126(1):79-84. doi: 10.1038/sj.jid.5700025. PMID: 16417221

Clinical prediction guides

A prospective, split-face, double-blinded, randomized study of the efficacy and safety of a fractional 1064-nm Q-switched Nd:YAG laser for photoaging-associated mottled pigmentation in Asian skin.
Won KH, Lee SH, Lee MH, Rhee DY, Yeo UC, Chang SE
J Cosmet Laser Ther 2016 Nov;18(7):381-386. Epub 2016 Jul 19 doi: 10.1080/14764172.2016.1191645. PMID: 27249461
A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.
Richardson ES, Lee JB, Hyde PH, Richard G
J Invest Dermatol 2006 Jan;126(1):79-84. doi: 10.1038/sj.jid.5700025. PMID: 16417221
Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation.
Irvine AD, Rugg EL, Lane EB, Hoare S, Peret C, Hughes AE, Heagerty AH
Br J Dermatol 2001 Jan;144(1):40-5. doi: 10.1046/j.1365-2133.2001.03950.x. PMID: 11167681
The genetic basis of epidermolysis bullosa simplex with mottled pigmentation.
Uttam J, Hutton E, Coulombe PA, Anton-Lamprecht I, Yu QC, Gedde-Dahl T Jr, Fine JD, Fuchs E
Proc Natl Acad Sci U S A 1996 Aug 20;93(17):9079-84. doi: 10.1073/pnas.93.17.9079. PMID: 8799157Free PMC Article

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