Health Condition 1: L86- Keratoderma in diseases classifiedelsewhere
Conditions
Interventions
None listed
Sponsors
Indian Association of Dermatologists Venereologists and Leprologists
Eligibility
Inclusion criteria
Inclusion criteria: NONSYNDROMIC FORMS 1.COMMON ICHTHYOSES RXLI - Nonsyndromic presentation 2.AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSES: ARCI Major types Harlequin ichthyosis; HI Lamellar ichthyosis: LI Congenital ichthyosiform Erythroderma: CIE 3.KERATINOPATHIC ICHTHYOSES Major types Epidermolytic ichthyosis: EI Superficial epidermolytic ichthyosis: SEI 4.OTHER FORMS Loricrin Kertoderma SYNDROMIC ICHTHYOSIS 1.X-LINKED ICHTHYOSIS SYNDROMES RXLI syndromic presentation Ichthyosis follicularis atrichia photophobia Conradi-Hunermann-Happle syndrome 2.AUTOSOMAL ICHTHYOSIS SYNDROMES WITH PROMINENT HAIR ABNORMALITIES Netherton syndrome: NS Trichothiodystrophy: TTD PROMINENT NEUROLOGIC SIGNS Sjo¨gren-Larsson syndrome: SLS Refsum syndrome FATAL DISEASES COURSE CEDNIK syndrome ARC syndrome OTHER ASSOCIATED SIGNS KID syndrome Neutral lipid storage disease IPS
Exclusion criteria
Exclusion criteria: a. Ichthyosis vulgaris b. Patients with acquired ichthyosis c. Patients or parents not giving consent to undergo genetic testing
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 1. To study the mutation landscape in patients with congenital ichthyosis with next generation sequencing. 2. In silico analysis of mutations for pathogenic effect using bioinformatic tools. 3. Pattern of inheritance, phenotype genotype correlation with variants found in the candidate genes. 4. Designing a customized panel of genes for targeted resequencing for congenital ichthyosis in our patient population. Timepoint: 1.Recruitment of patients and clinical assessment of severity and morphologic subtype, collection of blood samples & isolation of DNA 1-15 months 2.Standardization of Sanger sequencing 6-12 months 3.Processing samples for NGS 1-24 months 4.Validation of results of NGS with Sanger sequencing 12-24 months 5.Statistical analysis 18-24 months | — |
Secondary
| Measure | Time frame |
|---|---|
| In silico analysis of mutations for pathogenic effect using bioinformatic tools. 3. Pattern of inheritance, phenotype genotype correlation with variants found in the candidate genes. 4. Designing a customized panel of genes for targeted resequencing for congenital ichthyosis in our patient population.Timepoint: 0-24 months | — |
Countries
India
Contacts
Public ContactRahul Mahajan
Postgraduate Institute of Medical Education and Research, Chandigarh 160012, India
Outcome results
None listed