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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessIchthyosis + related dyskeratinoses, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Ichthyosis + related diseases of disturbed keratinization comprising 59 guideline-curated genes and altogether 88 curated genes according to the clinical signs

ID
IP0010
Number of genes
77 Accredited laboratory test
Examined sequence length
69,9 kb (Core-/Core-canditate-Genes)
135,1 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[[Sanger]]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ABCA126834NM_015657.4AR
ABHD51050NM_016006.6AR
ALDH3A21458NM_000382.3AR
ALOX12B2106NM_001139.3AR
ALOXE32532NM_021628.3AR
AP1S1477NM_001283.5AR
CASP14809NM_012114.3AR
CDSN1590NM_001264.5AD, AR
CERS31152NM_178842.5AR
CYP4F221596NM_173483.4AR
EBP693NM_006579.3XL
ERCC22283NM_000400.4AR
ERCC32349NM_000122.2AR
FLG12186NM_002016.2AD, AR
GBA11611NM_001005741.3AR
GJB2681NM_004004.6AD
GJB3813NM_024009.3AD, AR
GJB4801NM_153212.3AD
GJB6786NM_006783.5AD, digenisch
GTF2H5216NM_207118.3AR
KRT11935NM_006121.4AD
KRT101755NM_000421.5AD
KRT21920NM_000423.3AD
LIPN1197NM_001102469.2AR
LORICRIN939NM_000427.3AD
MBTPS21560NM_015884.4XLR
MPLKIP540NM_138701.4AR
NIPAL41401NM_001099287.2AR
PHYH1017NM_006214.4AR
PNPLA11341NM_001145716.2AR
POMP426NM_015932.6AR
SNAP29777NM_004782.4AR
SPINK53285NM_001127698.2AR
ST142568NM_021978.4AR
STS1752NM_000351.7XL
SUMF11125NM_182760.4AR
TGM12454NM_000359.3AR
VPS33B1854NM_018668.5AR
AAGAB621NM_001271885.2AD
AQP5798NM_001651.4AD
CARD142223NM_001257970.1AD
CAST2253NM_001042440.5AR
CLDN1636NM_021101.5AR
CLDN101038NM_001160100.2AR
CSTA297NM_005213.4AR
DOLK1617NM_014908.4AR
DSC22706NM_024422.6AR
DSG13150NM_001942.4AD, AR
DSP8616NM_004415.4AD, AR
ELOVL1847NM_001256399.2AD
ELOVL4945NM_022726.4AD
ENPP12778NM_006208.3AD
GJA11149NM_000165.5AD
JUP2238NM_002230.4AR
KDSR999NM_002035.4AR
KRT141419NM_000526.5AD
KRT161422NM_005557.4AD
KRT171299NM_000422.3AD, AR
KRT91872NM_000226.4AD
MPDU1744NM_004870.4AR
MSMO1489NM_001017369.3AR
NSDHL1122NM_015922.3XL
PEX7972NM_000288.4AR
PIGL759NM_004278.4AR
RHBDF22484NM_001005498.4AD
RSPO1792NM_001038633.4AR
SDR9C7946NM_148897.3AR
SERPINB71143NM_001040147.3AR
SLC27A41932NM_005094.4AR
SLURP1312NM_020427.3AR
SMARCAD13087NM_001128429.3AD
SRD5A3957NM_024592.5AR
SREBF13534NM_001005291.3AD
SULT2B11053NM_004605.2AR
TAT1365NM_000353.3AR
TGM52163NM_201631.4AR
TRPV32376NM_001258205.2AD

Informations about the disease

Clinical Comment

Ichthyoses are generalized dermatoses characterized by varying degrees of scaling, hyperkeratosis as well as erythroderma. They are often associated with palmoplantar keratoderma (PPK) or hyperlinearity. These keratinization disorders may be genetic or acquired. Hereditary ichthyosis is divided into syndromal and non-syndromal forms. In congenital ichthyoses, skin symptoms present either as collodion membrane or congenital ichthyosiform erythroderma. Collodion babies later develop lamellar ichthyosis or rarer variants such as improving collodion ichthyosis. The latter includes the rare autosomal recessive congenital ichthyosis, which manifests clinically as, for example, harlequin ichthyosis. In the common ichthyoses such as ichthyosis vulgaris, skin symptoms usually do not appear until several weeks to months after birth. Ichthyoses caused by keratin mutations, such as epidermolytic ichthyosis, superficial epidermolytic ichthyosis and congenital reticular ichthyosiform erythroderma, are called keratinopathic ichthyoses. They often manifest with blistering at birth. The PPKs also include a heterogeneous group of disorders characterized by persistent epidermal thickening of the palms and soles, such as diffuse hereditary PPK, focal and striatal hereditary PPK, and punctate hereditary PPK. In these two large groups of cornification disorders, all classical inheritance patterns are observed. The DNA diagnostic yield appears to be between 50-80%, largely depending on the given clinical workup of the patient group. Therefore, a negative result does not exclude the clinical dermatological diagnosis.

References: https://www.ncbi.nlm.nih.gov/books/NBK1420/

https://www.medicaljournals.se/acta/content/html/10.2340/00015555-3432

https://www.ncbi.nlm.nih.gov/books/NBK562318/

https://emedicine.medscape.com/article/1108406-overview

 

Synonyms
  • 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: 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: Lewy body dementia, susceptibility to (GBA1)
  • Allelic: Parkinson disease, late-onset, susceptibility to (GBA1)
  • 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 (ABHHD5)
  • Cole disease (ENPP)
  • 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)
  • Erythrokeratodermia variabilis et progressiva 5 (KRT83)
  • Erythrokeratodermia variabilis et progressiva 7 (PERP)
  • Gaucher disease, perinatal lethal (GBA1)
  • Gaucher disease, type I, II, III, IIIC (GBA1)
  • HELIX syndr.: Hypohidrosis, Electrolyte imbal., Lacrimal gland dysf., Ichthyosis, Xerostomy (CLDN10)
  • 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, follicular, with atrichia + photophobia syndrome 2 (SREBF1)
  • Ichthyosis, lamellar, AD (ASPRV1)
  • Ichthyosis, leukocyte vacuoles, alopecia + sclerosing cholangitis (CLDN1)
  • Ichthyosis, spastic quadriplegia + mental retardation (ELOVL4)
  • Ichthyotic keratoderma, spasticity, hypomyelination + dysmorphic facies (ELOVL1)
  • Kahrizi syndrome (SRD5A3)
  • 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)
  • 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)
  • Monilethrix (KRT83)
  • Mucoepithelial dysplasia, hereditary (SREBF1)
  • Multiple sulfatase deficiency (SUMF1)
  • Naegeli-Franceschetti-Jadassohn syndrome (KRT14)
  • Naxos disease (JUP)
  • Netherton syndrome (SPINK5)
  • Olmsted syndrome 1 (TRPV3)
  • Olmsted syndrome 2 (PERP)
  • 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 5 (SERPINB8)
  • 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)
  • Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
  • Sjogren-Larsson syndrome (ALDH3A2)
  • Sjogren-Larsson syndrome (ALH3A2)
  • Skin fragility-woolly hair syndrome (DSP)
  • Steatocystoma multiplex (KRT17)
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
  • digenisch
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined