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Epidermolysis bullosa simplex
Classification and external resources
ICD-10	Q81.0
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 is within the basal keratinocyte of the epidermis. Sometimes EBS is called epidermolytic.^{[citation needed]}

Contents 1 Subtypes 2 See also 3 References 4 External links

[edit] Subtypes

Epidermolysis bullosa simplex may be divided into the following types^{[1]:598[2]:556}:

• Generalized epidermolysis bullosa simplex (Koebner variant of generalized epidermolysis bullosa simplex)
• Localized epidermolysis bullosa simplex (Weber-Cockayne variant of generalized epidermolysis bullosa simplex)
• Epidermolysis bullosa herpetiformis (Dowling-Meara epidermolysis bullosa simplex)
• Epidermolysis bullosa simplex of Ogna
• Epidermolysis bullosa simplex with muscular dystrophy
• Epidermolysis bullosa simplex with mottled pigmentation

[edit] See also

• Epidermolysis bullosa

[edit] References

[edit] External links

• ebs at NIH/UW GeneTests

v • d • e 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 scleroderma/morphea · granuloma annulare · lichen sclerosis et atrophicus · necrobiosis lipoidica 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

v • d • e Congenital malformations and deformations of integument (Q80-Q82, 757.0-757.3) Skin disease/ genodermatosis Congenital ichthyosis AD Ichthyosis vulgaris AR Congenital ichthyosiform erythroderma: Epidermolytic hyperkeratosis · Ichthyosis lamellaris (Harlequin type ichthyosis) Netherton syndrome · Zunich-Kaye syndrome · Sjögren-Larsson syndrome XR X-linked ichthyosis Epidermolysis bullosa Epidermolysis bullosa simplex · Junctional epidermolysis bullosa · Epidermolysis bullosa dystrophica Pigmentation disorder Incontinentia pigmenti  · Urticaria pigmentosa · Lelis syndrome DNA repair-deficiency disorder Bloom syndrome · Rothmund-Thomson syndrome · Xeroderma pigmentosum Ectodermal dysplasia Naegeli syndrome/Dermatopathia pigmentosa reticularis · Hay-Wells syndrome · Hypohidrotic ectodermal dysplasia · Focal dermal hypoplasia · Ellis-van Creveld syndrome Hyperkeratosis/keratinopathy Meleda disease · Keratosis pilaris · Darier's disease · Dyskeratosis congenita · Lelis syndrome Nevus Capillary hemangioma · Port-wine stain (Nevus flammeus nuchae) Other Familial cutaneous papillomatosis · Kindler syndrome · cadherin (EEM syndrome) · immune system (Hereditary lymphedema, Mastocytosis) · Hailey Hailey · Birthmark Elastic fiber/Connective tissue Cutis laxa (Gerodermia osteodysplastica) · Pseudoxanthoma elasticum integument, SF, LCT navs: anat/physio, noncongen/congen/neoplasia, symptoms+signs/eponymous, proc

v • d • e Genetic disorder: Scleroprotein disease Extracellular matrix Collagen disease Genetic COL1: Osteogenesis imperfecta · Ehlers-Danlos syndrome, types 1,2,&7 COL2: Hypochondrogenesis · Achondrogenesis type 2 · Stickler syndrome · Marshall syndrome · Spondyloepiphyseal dysplasia congenita (see also C2/11) COL3: Ehlers-Danlos syndrome, types 3&4 (Sack-Barabas syndrome) COL4: Alport syndrome COL5: Ehlers-Danlos syndrome, types 1&2 COL6: Bethlem myopathy · Ullrich congenital muscular dystrophy COL7: Epidermolysis bullosa dystrophica COL8: Fuchs' dystrophy COL9: Multiple epiphyseal dysplasia COL10: Schmid metaphyseal chondrodysplasia COL11: Weissenbacher-Zweymüller syndrome · Otospondylomegaepiphyseal dysplasia (see also C2/11) COL17: Bullous pemphigoid Autoimmune Goodpasture's syndrome Laminopathy Barraquer-Simons syndrome · Buschke-Ollendorff syndrome/Osteopoikilosis · Pelger-Huet anomaly · Junctional epidermolysis bullosa Keratinopathy/ (keratosis, keratoderma, hyperkeratosis) Steatocystoma multiplex · Epidermolytic hyperkeratosis · Epidermolysis bullosa simplex · Ichthyosis bullosa of Siemens · Meesmann juvenile epithelial corneal dystrophy see also proteins

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