Epidermolysis bullosa simplex

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Epidermolysis bullosa simplex
Classification and external resources
ICD-10	Q 81.0
ICD-9	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.^{[citation needed]}

1 Subtypes
2 See also
3 References
4 External links

[edit] Subtypes

Epidermolysis bullosa simplex may be divided into multiple types:

OMIM	Name	Locus	Gene
609352	epidermolysis bullosa simplex with migratory circinate erythema	12q13	KRT5
131960	epidermolysis bullosa simplex with mottled pigmentation; EBS-MP	12q13	KRT5
601001	epidermolysis bullosa simplex, autosomal recessive	17q12-q21	KRT14
131900	epidermolysis bullosa simplex, Koebner type; EBS2	17q12-q21, 12q13	KRT5, KRT14
131800	epidermolysis bullosa simplex, Weber-Cockayne type	17q12-q21, 17q11-qter, 12q13	KRT5, KRT14
131760	epidermolysis bullosa herpetiformis, Dowling-Meara type	17q12-q21, 12q13	KRT5, KRT14
226670	epidermolysis bullosa simplex with muscular dystrophy	8q24	PLEC1
612138	epidermolysis bullosa simplex with pyloric atresia	8q24	PLEC1
131950	epidermolysis bullosa simplex, Ogna type	8q24	PLEC1

[edit] See also

Epidermolysis bullosa

[edit] References

^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0071380760.

[edit] External links

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 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 syphillis 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 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)

JEB (JEB-H, Mitis, Generalized atrophic, JEB-PA)

DEB (DDEB, RDEB)

Ectodermal dysplasia

Naegeli syndrome/Dermatopathia pigmentosa reticularis · Hay–Wells syndrome · Hypohidrotic ectodermal dysplasia · Focal dermal hypoplasia · Ellis–van Creveld syndrome · Rapp–Hodgkin syndrome/Hay–Wells syndrome

Elastic/Connective

Ehlers–Danlos syndrome · Cutis laxa (Gerodermia osteodysplastica) · Popliteal pterygium syndrome · Pseudoxanthoma elasticum · Van Der Woude syndrome

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

cadherin (EEM syndrome) · immune system (Hereditary lymphedema, Mastocytosis/Urticaria pigmentosa) · Hailey–Hailey

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

M: INT, SF, LCT

anat/phys/devp

noco(i/b/d/q/u/r/p/m/k/v/f)/cong/tumr(n/e/d), sysi/epon

proc, drug (D2/3/4/5/8/11)

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

Fibrillin (Marfan syndrome, Weill-Marchesani syndrome, ) · Filamin (FG syndrome 2, Boomerang dysplasia, Larsen syndrome, Terminal osseous dysplasia with pigmentary defects)

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

Spectrin: Spinocerebellar ataxia 5 · Hereditary spherocytosis 2, 3 · Hereditary elliptocytosis 2, 3

Ankyrin: Long QT syndrome 4 · Hereditary spherocytosis 1

Catenin

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

Other

desmoplakin: Striate palmoplantar keratoderma 2 · Carvajal syndrome · Arrhythmogenic right ventricular dysplasia 8

plectin: Epidermolysis bullosa simplex with muscular dystrophy · Epidermolysis bullosa simplex of Ogna

plakophilin: Skin fragility syndrome · Arrhythmogenic right ventricular dysplasia 9

centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II)

see also cytoskeletal proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk

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