Klinische FragestellungAlopezie, vernarbende

NGS +

Bei (Klein-)Kindern, im wesentlichen Knaben diffuse follikuläre Hyperkeratose mit progressiver cicatricial Alopezie der Kopfhaut, Augenbrauen, Wimpern; Photophobie, Hornhautdystrophie, Gesichtserythem und/oder palmoplantares Keratoderm

• Alias: Familial cicatricial alopecia
• Alias: IFAP [Ichthyosis Follicularis, Atrichia + Photophobia] (MBTPS2)
• Alias: Keratosis follicularis spinulosa decalvans
• Alias: Narbige Alopezie, Haarausfall mit Narbenbildung
• Allelic: Atrioventricular septal defect 3 (GJA1)
• Allelic: Craniometaphyseal dysplasia, AR (GJA1)
• Allelic: Erythrokeratodermia variabilis et progressiva 3 (GJA1)
• Allelic: Hypoplastic left heart syndrome 1 (GJA1)
• Allelic: Keratosis follicularis spinulosa decalvans, XL (MBTPS1)
• Allelic: Oculodentodigital dysplasia (GJA1)
• Allelic: Oculodentodigital dysplasia, AR (GJA1))
• Allelic: Osteogenesis imperfecta, type XIX (MBTPS1)
• Allelic: Syndactyly, type III (GJA1)
• Allelic: T-cell lymphopenia, infantile, with/-out nail dystrophy, AD (FOXN1)
• BRES{H}EK [Brain anomalies, Retardation, Ectodermal dysplasia, Skeletal, Ear/eye + Kidney anomalies]
• IFAP syndrome with/-out BRESHECK syndrome (MBTPS2)
• Ichthyosis, congenital, AR 13 (SDR9C7)
• Olmsted syndrome, XL [mutilating palmoplantar keratoderma] (MBTPS2)
• Palmoplantar keratoderma with congenital alopecia (GJA1)
• T-cell immunodeficiency, congenital alopecia, nail dystrophy (FOXN1)