IllnessEpidermolysis bullosa, differential diagnosis

NGS +

The term Epidermolysis bullosa comprises a group of rare diseases that cause brittle, blistering skin. The blisters can occur in response to minor injuries, including heat, rubbing, scratching or taping. In severe cases, the blisters can occur e.g. on the mucous membrane of the mouth or stomach mucosa. The disease usually commences in infancy or toddlers. Some people only develop symptoms in adolescence or early adulthood. Most forms of epidermolysis bullosa are inherited, and all classic transmission patterns are observed. When sequencing the 21 confirmed genes causing the 30 different types of Epidermolysis bullosa, a diagnostic yield of about 90% is achieved. This means that even an inconspicuous genetic finding cannot provide a reliable exclusion of a suspected clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7064925/

https://www.ncbi.nlm.nih.gov/books/NBK1369/https://www.ncbi.nlm.nih.gov/books/NBK1304/https://www.ncbi.nlm.nih.gov/books/NBK1125/

• Alias: Dystrophic epidermolysis bullosa
• Alias: Epidermolysis bullosa simplex
• Alias: Hemidesmosomal epidermolysis bullosa
• Alias: Junctional epidermolysis bullosa
• Alias: Weber-Cockayne syndrome
• Allelic: Amelogenesis imperfecta, type IA (LAMB3)
• Allelic: Arrhythmogenic right ventricular dysplasia 12 (JUP)
• Allelic: Arrhythmogenic right ventricular dysplasia 8 (DSP)
• Allelic: Autoinflammatory disease, systemic, X-linked (IKBKG)
• Allelic: Cardiomyopathy, dilated, with woolly hair + keratoderma (DSP)
• Allelic: Dilated cardiomyopathy with woolly hair, keratoderma, tooth agenesis (DSP)
• Allelic: Dowling-Degos disease 1 (KRT5)
• Allelic: Epithelial recurrent erosion dystrophy (COL17A1)
• Allelic: Hypotrichosis 2 (CDSN)
• Allelic: Immunodeficiency 33 (IKBKG)
• Allelic: Incontinentia pigmenti (IKBKG)
• Allelic: Laryngoonychocutaneous syndrome (LAMA3)
• Allelic: Muscular dystrophy, limb-girdle, AR 17 (PLEC)
• Allelic: Neuropathy, hereditary sensory + autonomic, type VI (DST)
• Allelic: Skin fragility-woolly hair syndrome (DSP)
• Allelic: Toenail dystrophy, isolated (COL7A1)
• Allelic: Transient bullous of the newborn (COL7A1)
• Acrodermatitis enteropathica (SLC39A4)
• Acrokeratosis verruciformis (ATP2A2)
• Darier disease (ATP2A2)
• Dermatopathia pigmentosa reticularis (KRT14)
• Ectodermal dysplasia and immunodeficiency 1 (IKBKG)
• Ectodermal dysplasia/skin fragility syndrome (PKP1)
• Encephalopathy, progressive, early-onset + brain edema and/or leukoencephalopathy, 2 (NAXD)
• 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 (CLO7A1)
• Epidermolysis bullosa of hands and feet (ITGB4)
• Epidermolysis bullosa pruriginosa (COL7A1)
• Epidermolysis bullosa simplex with muscular dystrophy (PLEC)
• Epidermolysis bullosa simplex with nail dystrophy (PLEC)
• Epidermolysis bullosa simplex, AR 1 (KRT14, KRT5)
• 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-MCR (KRT5)
• Epidermolysis bullosa simplex-MP (KRT5)
• 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, ITGB4, LAMB3, LAMC2)
• Epidermolysis bullosa, junctional, with pyloric atresia (ITGB4, PLEC)
• Epidermolysis bullosa, junctional, with pyloric stenosis (ITGA6)
• Epidermolysis bullosa, lethal acantholytic (DSP)
• Epidermolysis bullosa, nonspecific, AR (EXPH5)
• Epidermolysis bullosa, pretibial (COL7A1)
• Epidermolytic hyperkeratosis 1 (KRT1)
• Epidermolytic hyperkeratosis 2 (KRT10)
• Erythroderma, congenital, palmoplantar keratoderma, hypotrichosis, hyper IgE (DSG1)
• Hailey-Hailey disease (ATP2C1)
• Hypotrichosis and recurrent skin vesicles (DSC3)
• Ichthyosis histrix, Curth-Macklin type (KRT1)
• Ichthyosis histrix, Lambert type (KRT10)
• Ichthyosis with confetti (KRT10)
• Ichthyosis, annular epidermolytic 1 (KRT10)
• Ichthyosis, annular epidermolytic 2 (KRT1)
• Interstitial lung disease, nephrotic syndrome, epidermolysis bullosa, cong. (ITGA3)
• Keratolytic winter erythema (CTSB)
• Keratosis palmoplantaris striata I, AD (DSG1)
• Keratosis palmoplantaris striata II (DSP)
• Keratosis palmoplantaris striata III (KRT1)
• Kindler syndrome (FERMT1)
• Lysyl hydroxylase 3 deficiency (PLOD3)
• Naegeli-Franceschetti-Jadassohn syndrome (KRT14)
• Naxos disease (JUP)
• Nephropathy with pretibial epidermolysis bullosa, deafness (CD151)
• Palmoplantar keratoderma, epidermolytic, 2 (KRT1)
• Palmoplantar keratoderma, nonepidermolytic (KRT1)
• Peeling skin syndrome 1 (CDSN)
• Peeling skin syndrome 2 (TGM5)
• Peeling skin syndrome 4 (CSTA)
• Peeling skin syndrome 5 (SERPINB8)
• Peeling skin syndrome 6 (FLG2)
• Peeling skin with leukonychia, acral punctate keratoses, cheilitis, knuckle pads (CAST)