Epidermolysis bullosa simplex

Epidermolysis bullosa simplex

Epidermolysis bullosa simplex
Classification and external resources
Specialty	medical genetics
ICD-10	Q81.0
ICD-9-CM	757.39
OMIM	131900 131760 131800 131960
DiseasesDB	4334
eMedicine	derm/124
MeSH	D016110

Epidermolysis bullosa simplex (EBS) is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14.^[1]^:598

Blister formation of EBS occurs at the dermoepidermal junction. Sometimes EBS is called epidermolytic.

Classification

Epidermolysis bullosa simplex may be divided into multiple types:

Type	Locus & Gene	OMIM
Epidermolysis bullosa simplex with migratory circinate erythema	12q13 (KRT5)	609352
Epidermolysis bullosa simplex with mottled pigmentation. Associated with a recurrent mutation in KRT14.^[2]^:557^[3]^[4]	12q13 (KRT5)	131960
Epidermolysis bullosa simplex, autosomal recessive	17q12-q21 (KRT14)	601001
Generalized epidermolysis bullosa simplex Also known as "Koebner variant of generalized epidermolysis bullosa simplex", presents at birth to early infancy with a predilection for the hands, feet, and extremities, and palmar-plantar hyperkeratosis and erosions may be present.^[1]^:598^[2]^:556	17q12-q21 (KRT5), 12q13 (KRT14)	131900
Localized epidermolysis bullosa simplex Also known as "Weber–Cockayne syndrome,"^[4]^:460 and "Weber–Cockayne variant of generalized epidermolysis bullosa simplex", is characterized by onset in childhood or later in life, and is the most common variant of epidermolysis bullosa simplex.^[1]^:598^[2]^:557	17q12-q21 (KRT5), 17q11-qter, 12q13 (KRT14)	131800
Epidermolysis bullosa herpetiformis Also known as "Dowling-Meara epidermolysis bullosa simplex", presents at birth with a generalized distribution, often with oral mucosa involvement and variable lesions in infancy.^[1]^:598^[2]^:557	17q12-q21 (KRT5), 12q13 (KRT14)	131760
Epidermolysis bullosa simplex with muscular dystrophy A rare clinical entity, and is the only epidermolytic epidermolysis bullosa described that is not caused by a keratin mutation, presenting as a generalized intraepidermal blistering similar to the Koebner variant of generalized epidermolysis bullosa simplex, but also associated with adult onset muscular dystrophy.^[1]^:598^[2]^:557^[4]	8q24 (PLEC1)	226670
Epidermolysis bullosa simplex with pyloric atresia	8q24 (PLEC1)	612138
Epidermolysis bullosa simplex of Ogna Has onset in infancy, presenting with seasonal blistering on acral areas during summer months.^[1]^:598^[2]^:557^[4]	8q24 (PLEC1)	131950

Epidermolysis bullosa simplex

References

1 2 3 4 5 6 Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
1 2 3 4 5 6 James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
↑ Harel, A, et al. "Epidermolysis Bullosa Simplex with Mottled Pigmentation Resulting from a Recurrent Mutation in KRT14." Journal of Investigative Dermatology. (2006) 126, 1654–1657. doi:10.1038/sj.jid.5700296; published online 6 April 2006.
1 2 3 4 Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.

External links

Wikimedia Commons has media related to Epidermolysis bullosa simplex.

GeneReviews/NCBI/UW/NIH entry on Epidermolysis Bullosa Simplex

Diseases of the skin and appendages by morphology

Growths

Epidermal	wart callus seborrheic keratosis acrochordon molluscum contagiosum actinic keratosis squamous-cell carcinoma basal-cell carcinoma Merkel-cell carcinoma nevus sebaceous trichoepithelioma

Pigmented	Freckles lentigo melasma nevus melanoma

Dermal and subcutaneous	epidermal inclusion cyst hemangioma dermatofibroma (benign fibrous histiocytoma) keloid lipoma neurofibroma xanthoma Kaposi's sarcoma infantile digital fibromatosis granular cell tumor leiomyoma lymphangioma circumscriptum myxoid cyst

Rashes

With
epidermal
involvement

Eczematous	contact dermatitis atopic dermatitis seborrheic dermatitis stasis dermatitis lichen simplex chronicus Darier's disease glucagonoma syndrome langerhans cell histiocytosis lichen sclerosus pemphigus foliaceus Wiskott–Aldrich syndrome Zinc deficiency

Scaling	psoriasis tinea (corporis cruris pedis manuum faciei) pityriasis rosea secondary syphilis mycosis fungoides systemic lupus erythematosus pityriasis rubra pilaris parapsoriasis ichthyosis

Blistering	herpes simplex herpes zoster varicella bullous impetigo acute contact dermatitis pemphigus vulgaris bullous pemphigoid dermatitis herpetiformis porphyria cutanea tarda epidermolysis bullosa simplex

Papular	scabies insect bite reactions lichen planus miliaria keratosis pilaris lichen spinulosus transient acantholytic dermatosis lichen nitidus pityriasis lichenoides et varioliformis acuta

Pustular	acne vulgaris acne rosacea folliculitis impetigo candidiasis gonococcemia dermatophyte coccidioidomycosis subcorneal pustular dermatosis

Hypopigmented	tinea versicolor vitiligo pityriasis alba postinflammatory hyperpigmentation tuberous sclerosis idiopathic guttate hypomelanosis leprosy hypopigmented mycosis fungoides

Without
epidermal
involvement

Red

Blanchable
Erythema

Generalized	drug eruptions viral exanthems toxic erythema systemic lupus erythematosus

Localized	cellulitis abscess boil erythema nodosum carcinoid syndrome fixed drug eruption

Specialized	urticaria erythema (multiforme migrans gyratum repens annulare centrifugum ab igne)

Nonblanchable
Purpura

Macular	thrombocytopenic purpura actinic/solar purpura

Papular	disseminated intravascular coagulation vasculitis

Indurated

Miscellaneous
disorders

Ulcers

Hair	telogen effluvium androgenic alopecia trichotillomania alopecia areata systemic lupus erythematosus tinea capitis loose anagen syndrome lichen planopilaris folliculitis decalvans acne keloidalis nuchae

Nail	onychomycosis psoriasis paronychia ingrown nail

Mucous membrane	Aphthous stomatitis oral candidiasis lichen planus leukoplakia pemphigus vulgaris mucous membrane pemphigoid cicatricial pemphigoid herpesvirus coxsackievirus syphilis systemic histoplasmosis squamous-cell carcinoma

Congenital malformations and deformations of integument / skin disease (Q80–Q82, 757.0–757.3)

Genodermatosis

Congenital ichthyosis/
erythrokeratodermia

AD	Ichthyosis vulgaris

AR	Congenital ichthyosiform erythroderma: Epidermolytic hyperkeratosis Lamellar ichthyosis Harlequin type ichthyosis Netherton syndrome Zunich–Kaye syndrome Sjögren–Larsson syndrome

XR	X-linked ichthyosis

Ungrouped	Ichthyosis bullosa of Siemens Ichthyosis follicularis Ichthyosis prematurity syndrome Ichthyosis–sclerosing cholangitis syndrome Nonbullous congenital ichthyosiform erythroderma Ichthyosis linearis circumflexa Ichthyosis hystrix

EB
and related

EBS
- EBS-K
- EBS-WC
- EBS-DM
- EBS-OG
- EBS-MD
- EBS-MP

DEB
- DDEB
- RDEB

Ectodermal dysplasia

Elastic/Connective

Hyperkeratosis/
keratinopathy

PPK	diffuse: Diffuse epidermolytic palmoplantar keratoderma Diffuse nonepidermolytic palmoplantar keratoderma Palmoplantar keratoderma of Sybert Mal de Meleda syndromic connexin Bart–Pumphrey syndrome Clouston's hidrotic ectodermal dysplasia Vohwinkel syndrome Corneodermatoosseous syndrome plakoglobin Naxos syndrome Scleroatrophic syndrome of Huriez Olmsted syndrome Cathepsin C Papillon–Lefèvre syndrome Haim–Munk syndrome Camisa disease focal: Focal palmoplantar keratoderma with oral mucosal hyperkeratosis Focal palmoplantar and gingival keratosis Howel–Evans syndrome Pachyonychia congenita Pachyonychia congenita type I Pachyonychia congenita type II Striate palmoplantar keratoderma Tyrosinemia type II punctate: Acrokeratoelastoidosis of Costa Focal acral hyperkeratosis Keratosis punctata palmaris et plantaris Keratosis punctata of the palmar creases Schöpf–Schulz–Passarge syndrome Porokeratosis plantaris discreta Spiny keratoderma ungrouped: Palmoplantar keratoderma and spastic paraplegia desmoplakin Carvajal syndrome connexin Erythrokeratodermia variabilis HID/KID

Other	Meleda disease Keratosis pilaris ATP2A2 Darier's disease Dyskeratosis congenita Lelis syndrome Dyskeratosis congenita Keratolytic winter erythema Keratosis follicularis spinulosa decalvans Keratosis linearis with ichthyosis congenital and sclerosing keratoderma syndrome Keratosis pilaris atrophicans faciei Keratosis pilaris

Other

see also Template:Congenital malformations and deformations of skin appendages, Template:Phakomatoses, Template:Pigmentation disorders, Template:DNA replication and repair-deficiency disorder

Developmental
anomalies

Midline	Dermoid cyst Encephalocele Nasal glioma PHACE association Sinus pericranii

Nevus	Capillary hemangioma Port-wine stain Nevus flammeus nuchae

Other/ungrouped	Aplasia cutis congenita Amniotic band syndrome Branchial cyst Cavernous venous malformation Accessory nail of the fifth toe Bronchogenic cyst Congenital cartilaginous rest of the neck Congenital hypertrophy of the lateral fold of the hallux Congenital lip pit Congenital malformations of the dermatoglyphs Congenital preauricular fistula Congenital smooth muscle hamartoma Cystic lymphatic malformation Median raphe cyst Melanotic neuroectodermal tumor of infancy Mongolian spot Nasolacrimal duct cyst Omphalomesenteric duct cyst Poland anomaly Rapidly involuting congenital hemangioma Rosenthal–Kloepfer syndrome Skin dimple Superficial lymphatic malformation Thyroglossal duct cyst Verrucous vascular malformation Birthmark

Cytoskeletal defects

Microfilaments

Myofilament

Actin	Hypertrophic cardiomyopathy 11 Dilated cardiomyopathy 1AA DFNA20 Nemaline myopathy 3

Myosin	Elejalde syndrome Hypertrophic cardiomyopathy 1, 8, 10 Usher syndrome 1B Freeman–Sheldon syndrome DFN A3, 4, 11, 17, 22; B2, 30, 37, 48 May-Hegglin anomaly

Troponin	Hypertrophic cardiomyopathy 7, 2 Nemaline myopathy 4, 5

Tropomyosin	Hypertrophic cardiomyopathy 3 Nemaline myopathy 1

Titin	Hypertrophic cardiomyopathy 9

Other

1/2	Keratinopathy (keratosis, keratoderma, hyperkeratosis): KRT1 Striate palmoplantar keratoderma 3 Epidermolytic hyperkeratosis IHCM KRT2E (Ichthyosis bullosa of Siemens) KRT3 (Meesmann juvenile epithelial corneal dystrophy) KRT4 (White sponge nevus) KRT5 (Epidermolysis bullosa simplex) KRT8 (Familial cirrhosis) KRT10 (Epidermolytic hyperkeratosis) KRT12 (Meesmann juvenile epithelial corneal dystrophy) KRT13 (White sponge nevus) KRT14 (Epidermolysis bullosa simplex) KRT17 (Steatocystoma multiplex) KRT18 (Familial cirrhosis) KRT81/KRT83/KRT86 (Monilethrix) Naegeli–Franceschetti–Jadassohn syndrome Reticular pigmented anomaly of the flexures

3	Desmin: Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I GFAP: Alexander disease Peripherin: Amyotrophic lateral sclerosis

4	Neurofilament: Parkinson's disease Charcot–Marie–Tooth disease 1F, 2E Amyotrophic lateral sclerosis

5	Laminopathy: LMNA Mandibuloacral dysplasia Dunnigan Familial partial lipodystrophy Emery-Dreifuss muscular dystrophy 2 Limb-girdle muscular dystrophy 1B Charcot–Marie–Tooth disease 2B1 LMNB Barraquer–Simons syndrome LEMD3 Buschke–Ollendorff syndrome Osteopoikilosis LBR Pelger-Huet anomaly Hydrops-ectopic calcification-moth-eaten skeletal dysplasia

Microtubules

Kinesin	Charcot–Marie–Tooth disease 2A Hereditary spastic paraplegia 10

Dynein	Primary ciliary dyskinesia Short rib-polydactyly syndrome 3 Asphyxiating thoracic dysplasia 3

Other	Tauopathy Cavernous venous malformation

Membrane

Ankyrin: Long QT syndrome 4

Hereditary spherocytosis 1

Catenin

APC
- Gardner's syndrome
- Familial adenomatous polyposis
plakoglobin (Naxos syndrome)
GAN (Giant axonal neuropathy)

Other

centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II)

See also: cytoskeletal proteins

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