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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 38 guideline-curated genes and altogether 79 curated genes according to the clinical signs

ID
IP0010
Number of genes
66 Accredited laboratory test
Examined sequence length
62,4 kb (Core-/Core-canditate-Genes)
120,1 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-GHeredity
ABCA126834AR
ABHD51050AR
ALOX12B2106AR
ALOXE32532AR
CASP14809AR
CDSN1590AD, AR
CERS31152AR
CYP4F221596AR
EBP693XL
ERCC22283AR
ERCC32349AR
FLG12186AD
GJB2681AD
GJB3813AD, AR
GJB4801AD
GJB6786AD, AR, digenisch
GTF2H5216AR
KRT11935AD
KRT101755AD, AR
KRT21920AD
LIPN1197AR
LORICRIN939AD
MBTPS21560XLR
MPLKIP540AR
NIPAL41401AR
PNPLA11341AR
POMP426AD
SNAP29777AR
SPINK53285AR
ST142568n.k.
STS1752AR
TGM12454AR
AAGAB621AD
AQP5798AD
CARD142223AD
CAST2253AR
CHST81275AR
CLDN1636AR
CSTA297AR
DSC22706AR
DSG13150AD, AR
DSP8616AR
ELOVL4945AD, AR
ENPP12778AD
GJA11149AD, AR
JUP2238AR
KDSR999AR
KRT141419AD
KRT161422AD
KRT171299AD
KRT91872AD
MSMO1489AR
NSDHL1122XL
PIGL759AR
RHBDF22484AD
RNF113A1032XLD
RSPO1792AR
SDR9C7946AD, AR, Sus
SERPINB71143AR
SLC27A41932AR
SLURP1312AD
SMARCAD13087AD
SULT2B11053AR
TAT1365AR
TGM52163AR
TRPV32376AD

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 (GBA)
  • Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
  • 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)
  • 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)
  • 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)
  • 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)
  • Pityriasis rubra pilaris (CARD14)
  • Refsum disease (PHYH)
  • 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
  • Sus
  • XL
  • XLD
  • XLR
  • digenisch
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q80.-

Bioinformatics and clinical interpretation

No text defined