Molecular Diagnosis of Congenital Ichthyosis

Not Applicable

• Conditions: Health Condition 1: L86- Keratoderma in diseases classifiedelsewhere

• Registration Number: CTRI/2020/03/024291
• Lead Sponsor: Indian Association of Dermatologists Venereologists and Leprologists

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Last Update Posted: 24 November 2021

Recruitment & Eligibility

• Status: ot Yet Recruiting
• Sex: Not specified
• Target Recruitment: 0

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

a.Ichthyosis vulgaris

b.Patients with acquired ichthyosis

c.Patients or parents not giving consent to undergo genetic testing

Study & Design

• Study Type: Observational
• Study Design: Not specified