Klinische FragestellungIchthyosen, syndromisch; Differentialdiagnose

NGS +

• Allelic: CK syndrome (NSDHL)
• Allelic: Cardiomyopathy, dilated, with woolly hair + keratoderma (DSP)
• Allelic: Chondrodysplasia punctata, XLD (EBP)
• Allelic: Dilated cardiomyopathy with woolly hair, keratoderma + tooth agenesis (DSP)
• Allelic: Lewy body dementia, susceptibility to (GBA)
• Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
• Allelic: Peeling skin syndrome 1 (CDSN)
• Allelic: Proteasome-associated autoinflammatory syndrome 2 (POMP)
• Allelic: Psoriasis 2 (CARD14)
• Allelic: Spinocerebellar ataxia 34 (ELOVL4)
• Allelic: Stargardt disease 3 (ELOVL4)
• Allelic: Xeroderma pigmentosum, group B (ERCC3)
• Allelic: Xeroderma pigmentosum, group D (ERCC2)
• Adermatoglyphia (SMARCAD1)
• Allelic: Kahrizi syndrome (SRD5A3)
• Allelic: Osteogenesis imperfecta, type XIX (MBTPS2)
• Allelic: Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
• Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratod. + woolly hair (DSC2)
• Arthrogryposis, renal dysfunction + cholestasis 1 (VPS33B)
• Basan syndrome (SMARCAD1)
• CHILD syndrome (NSDHL)
• CHIME syndrome (PIGL)
• Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (SNAP29)
• Chanarin-Dorfman syndrome (ABHD5)
• Chanarin-Dorfman syndrome (ABHHD5)
• Cole disease (ENPP)
• Congenital disorder of glycosylation, type IIi (COG5)
• Congenital disorder of glycosylation, type IIl (COG6)
• Congenital disorder of glycosylation, type If (MPDU1)
• Congenital disorder of glycosylation, type Im (DOLK)
• Congenital disorder of glycosylation, type Iq (SRD5A3)
• Dermatopathia pigmentosa reticularis (KRT14)
• Ectodermal dysplasia 2, Clouston type (GJB6)
• Epidermolysis bullosa simplex, Dowling-Meara type (KRT14)
• Epidermolysis bullosa simplex, Koebner type (KRT14)
• Epidermolysis bullosa simplex, Weber-Cockayne type (KRT14)
• Epidermolysis bullosa simplex, recessive 1 (KRT14)
• Epidermolysis bullosa, lethal acantholytic (DSP)
• Epidermolytic hyperkeratosis (KRT1)
• Epidermolytic hyperkeratosis (KRT10)
• Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis + hyper IgE (DSG1)
• Erythrokeratodermia variabilis et progressiva 1 (GJB3)
• Erythrokeratodermia variabilis et progressiva 2 (GJB4)
• Erythrokeratodermia variabilis et progressiva 3 (GJA1)
• Erythrokeratodermia variabilis et progressiva 4 (KDSR)
• Gaucher disease, perinatal lethal (GBA)
• Gaucher disease, type I, II, III, IIIC (GBA)
• HELIX syndrome (CLDN10)
• Holocarboxylase synthetase deficiency (HLCS)
• Huriez syndrome (SMARCAD1)
• IFAP syndrome with or without BRESHECK syndrome (MBTPS2)
• Ichthyosis bullosa of Siemens (KRT2)
• Ichthyosis histrix, Curth-Macklin type (KRT1)
• Ichthyosis prematurity syndrome (SLC27A4)
• Ichthyosis vulgaris (FLG)
• Ichthyosis with confetti (KRT10)
• Ichthyosis, XL (STS)
• Ichthyosis, congenital, AR 1 (TGM1)
• Ichthyosis, congenital, AR 10 (PNPLA1)
• Ichthyosis, congenital, AR 11 (ST14)
• Ichthyosis, congenital, AR 12 (CASP14)
• Ichthyosis, congenital, AR 14 (SULT2B1)
• Ichthyosis, congenital, AR 2 (ALOX12B)
• Ichthyosis, congenital, AR 3 (ALOXE3)
• Ichthyosis, congenital, AR 4A, 4B [harlequin] (ABCA12)
• Ichthyosis, congenital, AR 5 (CYP4F22)
• Ichthyosis, congenital, AR 6 (NIPAL4)
• Ichthyosis, congenital, AR 8 (LIPN)
• Ichthyosis, congenital, AR 9 (CERS3)
• Ichthyosis, congenital, Ar 13 (SDR9C7)
• Ichthyosis, cyclic, with epidermolytic hyperkeratosis (KRT1)
• Ichthyosis, cyclic, with epidermolytic hyperkeratosis (KRT10)
• Ichthyosis, lamellar, AD (ASPRV1)
• Ichthyosis, leukocyte vacuoles, alopecia + sclerosing cholangitis (CLDN1)
• Ichthyosis, spastic quadriplegia + mental retardation (ELOVL4)
• Ichthyotic keratoderma, spasticity, hypomyelination + dysmorphic facies (ELOVL1)
• Keratitis-ichthyosis-deafness syndrome (GJB2)
• Keratitis-ichthyosis-deafness syndrome, AR (AP1B1)
• 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)
• Keratosis palmoplantaris striata I, AD (DSG1)
• Keratosis palmoplantaris striata II (DSP)
• Keratosis palmoplantaris striata III (KRT1)
• MEDNIK syndrome (AP1S1)
• MEND syndrome (EBP)
• Meleda disease (SLURP1)
• Microcephaly, congenital cataract + psoriasiform dermatitis (MSMO1)
• Multiple sulfatase deficiency (SUMF1)
• Naegeli-Franceschetti-Jadassohn syndrome (KRT14)
• Naxos disease (JUP)
• Netherton syndrome (SPINK5)
• Olmsted syndrome 1 (TRPV3)
• Olmsted syndrome, XL (MBTPS2)
• Pachyonychia congenita 1 (KRT16)
• Pachyonychia congenita 2 (KRT17)
• Pachyonychia congenita 3 (KRT6A)
• Pachyonychia congenita 4 (KRT6B)
• Palmoplantar hyperkeratosis and true hermaphroditism (RSPO1)
• Palmoplantar hyperkeratosis with squamous cell carcinoma of skin + sex reversal (RSPO1)
• Palmoplantar keratoderma with congenital alopecia (GJA1)
• Palmoplantar keratoderma, Bothnian type (AQP5)
• Palmoplantar keratoderma, Nagashima type (SERPINB7)
• Palmoplantar keratoderma, epidermolytic (KRT1)
• Palmoplantar keratoderma, epidermolytic (KRT9)
• Palmoplantar keratoderma, nonepidermolytic (KRT1)
• Palmoplantar keratoderma, nonepidermolytic, focal (KRT16)
• Palmoplantar keratoderma, nonepidermolytic, focal 2 (TRPV3)
• Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (KRT6C)
• Peeling skin syndrome 2 (TGM5)
• Peeling skin syndrome 3 (CHST8)
• Peeling skin syndrome 4 (CSTA)
• Peeling skin syndrome 6 (FLG2)
• Peeling skin with leukonychia, acral punctate keratoses, cheilitis + knuckle pads (CAST)
• Peroxisome biogenesis disorder 9B (PEX7)
• Pityriasis rubra pilaris (CARD14)
• Refsum disease (PHYH)
• Shaheen syndrome (COG6)
• Sjogren-Larsson syndrome (ALH3A2)
• Skin fragility-woolly hair syndrome (DSP)
• Steatocystoma multiplex (KRT17)
• Transaldolase deficiency (TALDO1)
• Trichothiodystrophy 1, photosensitive (ERCC2)
• Trichothiodystrophy 2, photosensitive (ERCC3)
• Trichothiodystrophy 3, photosensitive (GTF2H5)
• Trichothiodystrophy 4, nonphotosensitive (MPLKIP)
• Trichothiodystrophy 5, nonphotosensitive (RNF113A)
• Trichothiodystrophy 6, nonphotosensitive (GTF2E2)
• Tylosis with esophageal cancer (RHBDF2)
• Tyrosinemia, type II (TAT)
• Vohwinkel syndrome with ichthyosis (LORICRIN)
• Weill-Marchesani 4 syndrome, AR (ADAMTS17)