Klinische FragestellungEpidermolysis bullosa simplex, Differentialdiagnose

NGS +

Nicht-Dowling-Meara generalisierte Epidermolysis bullosa simplex, früher bekannt als Epidermolysis bullosa simplex - Köbner-Typ, ist ein generalisierter basaler Subtyp der Epidermolysis bullosa simplex mit nicht-herpetiformen Blasen + Erosionen, die insbesondere an Reibungsstellen entstehen

• Allelic: Amelogenesis imperfecta, type IA (LAMB3)
• Allelic: Arrhythmogenic right ventricular dysplasia 8 (DSP)
• Allelic: Blood group, Raph (CD151)
• Allelic: Dermatopathia pigmentosa reticularis (KRT14)
• Allelic: Laryngoonychocutaneous syndrome (LAMA3)
• Allelic: Muscular dystrophy, limb-girdle, AR 17 (PLEC)
• Allelic: Neuropathy, hereditary sensory + autonomic, type VI (DST)
• Allelic: Toenail dystrophy, isolated (COL7A1)
• Allelic: Transient bullous of the newborn (COL7A1)
• Cardiomyopathy, dilated, with woolly hair + keratoderma (DSP)
• Dilated cardiomyopathy with woolly hair, keratoderma, tooth agenesis (DSP)
• Ectodermal dysplasia/skin fragility syndrome (PKP1)
• Epidermolysis bullosa dystrophica inversa (COL7A1)
• Epidermolysis bullosa dystrophica, AD (COL7A1)
• Epidermolysis bullosa dystrophica, AR (COL7A1)
• Epidermolysis bullosa dystrophica, Bart type (COL7A1)
• Epidermolysis bullosa dystrophica, localisata variant (COL7A1)
• Epidermolysis bullosa pruriginosa (COL7A1)
• Epidermolysis bullosa simplex (EXPH5)
• Epidermolysis bullosa simplex with mottled pigmentation (KRT5)
• Epidermolysis bullosa simplex with muscular dystrophy (PLEC)
• Epidermolysis bullosa simplex with nail dystrophy (PLEC)
• Epidermolysis bullosa simplex with pyloric atresia (PLEC)
• Epidermolysis bullosa simplex, 1, AR (KRT14)
• Epidermolysis bullosa simplex, AR 2 (DST)
• Epidermolysis bullosa simplex, Dowling-Meara type (KRT14, KRT5)
• Epidermolysis bullosa simplex, Koebner type (KRT14, KRT5)
• Epidermolysis bullosa simplex, Ogna type (PLEC)
• Epidermolysis bullosa simplex, Weber-Cockayne type (KRT14, KRT5)
• Epidermolysis bullosa simplex, generalized, with scarring + hair loss (KLHL24)
• Epidermolysis bullosa, generalized atrophic benign (LAMA3)
• Epidermolysis bullosa, junctional, Herlitz type (LAMA3, LAMB3, LAMC2)
• Epidermolysis bullosa, junctional, localisata variant (COL17A1)
• Epidermolysis bullosa, junctional, non-Herlitz type (COL17A1, LAMB3, LAMC2)
• Epidermolysis bullosa, lethal acantholytic (DSP)
• Epidermolysis bullosa, nonspecific, AR (EXPH5)
• Epidermolysis bullosa, pretibial (COL7A1)
• Epithelial recurrent erosion dystrophy (COL17A1)
• Keratosis palmoplantaris striata II (DSP)
• Naegeli-Franceschetti-Jadassohn syndrome AD (KRT14)
• Naxos diesease [Woolly hair, palmoplantar keratoderma, cardiac abnormalities] (JUP)
• Nephropathy with pretibial epidermolysis bullosa + deafness (CD151)
• Peeling skin syndrome 2 (TGM5)
• Skin fragility-woolly hair syndrome (DSP)