Klinische FragestellungKeratose, Keratoderma, Erythrokeratoderma; Differentialdiagnose

NGS +

[Sanger]

Gruppe von Erkrankungen

• Allelic: Arrhythmogenic right ventricular dysplasia 12 (JUP)
• Allelic: Deafness, digenic, GJB2/GJB3 (GJB3)
• Allelic: Epidermolysis bullosa simplex, Dowling-Meara type (KRT14)
• Allelic: Epidermolysis bullosa simplex, Koebner type (KRT14)
• Allelic: Epidermolysis bullosa simplex, Weber-Cockayne type (KRT14)
• Allelic: Epidermolysis bullosa simplex, recessive 1 (KRT14)
• Allelic: Nephrotic syndrome, type 16 (KANK2)
• Allelic: Osteogenesis imperfecta, type XIX (MBTPS2)
• Allelic: Pachyonychia congenita 1 (KRT16)
• Allelic: Periodontitis 1, juvenile (CTSC)
• Allelic: Proteasome-associated autoinflammatory syndrome 2 (POMP)
• Bart-Pumphrey syndrome (GJB2)
• Cole disease (ENPP1)
• Dermatopathia pigmentosa reticularis (KRT14)
• Epidermolytic hyperkeratosis (KRT10)
• Erythrokeratodermia variabilis et progressiva 1 (GJB3)
• Erythrokeratodermia variabilis et progressiva 3 (GJA1)
• Erythrokeratodermia variabilis et progressiva 4 (KDSR)
• Haim-Munk syndrome (CTSC)
• Hystrix-like ichthyosis with deafness (GJB2)
• IFAP syndrome with or without BRESHECK syndrome (MBTPS2) 3
• Ichthyosis with confetti (KRT10)
• Ichthyosis, cyclic, with epidermolytic hyperkeratosis (KRT10)
• Inflammatory skin + bowel disease, neonatal, 1 (ADAM17)
• Keratitis-ichthyosis-deafness syndrome (GJB2)
• Keratoderma, palmoplantar, punctate type IA (AAGAB)
• Keratoderma, palmoplantar, with deafness (GJB2)
• Keratosis follicularis spinulosa decalvans, XL (MBTPS2)
• Keratosis linearis with ichthyosis congenita + sclerosing keratoderma (POMP)
• Meleda disease (SLURP1)
• Naegeli-Franceschetti-Jadassohn syndrome (KRT14)
• Naxos disease (JUP)
• Olmsted syndrome (TRPV3)
• Olmsted syndrome, XL (MBTPS2)
• Palmoplantar hyperkeratosis + true hermaphroditism (RSPO1)
• Palmoplantar hyperkeratosis with squamous cell carcinoma of skin + sex reversal (RSPO1)
• Palmoplantar keratoderma and woolly hair (KANK2)
• Palmoplantar keratoderma with congenital alopecia (GJA1)
• Palmoplantar keratoderma, Bothnian type (AQP5)
• Palmoplantar keratoderma, Nagashima type (SERPINB7)
• Palmoplantar keratoderma, epidermolytic (KRT9)
• Palmoplantar keratoderma, nonepidermolytic, focal (KRT16)
• Palmoplantar keratoderma, nonepidermolytic, focal 2 (TRPV3)
• Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (KRT6C)
• Papillon-Lefevre syndrome (CTSC)
• Tylosis with esophageal cancer (RHBDF2)
• Tyrosinemia, type II (TAT)
• Vohwinkel syndrome (GJB2)
• Vohwinkel syndrome with ichthyosis (LORICRIN)