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Inclusion Criteria
• Neonates, infants, children and adults with a history of generalised red, dry, peeling skin at birth with a mode of inheritance consistent with autosomal recessive transmission • Diagnosis confirmed by consultant dermatologist
Exclusion Criteria
• Ichthyosis vulgaris • STS-related ichthyosis • Syndromic ichthyosis • Keratinopathic ichthyosis • Acquired ichthyosis
Prior Genetic Testing
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. - Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing. PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.
Genes
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: TGM1, ALOXE3, ALOX12B, NIPAL4, CYP4F22 and, where appropriate, STS and ABCA12
Closing Statement
These requirements will be kept under continual review during the main programme and may be subject to change.
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Congenital ichthyosiform erythroderma
An ichthyosiform abnormality of the skin with congenital onset.
Congenital nonbullous ichthyosiform erythroderma
The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.
Ichthyosis
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. Comment: The ichthyoses are a group of skin diseases characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed. The abnormality in ichthyosis lies in am imbalance in the normal lifecycle of skin in which growth is matched with dying and shedding of skin cells. In ichthyosis, skin cells reproduce at a rate faster than dead skin cells can be shed or reproduce at a normal rate with a reduction in the rate of shedding. Either abnormality leads to a build up of dry and scaly skin. Note that this term refers to the morphological abnormality of the skin and not the disorder.
Palmoplantar hyperkeratosis
Hyperkeratosis affecting the palm of the hand and the sole of the foot.
Alopecia
Loss of hair from the head or body.
Hypotrichosis
Congenital lack of hair growth. Comment: Unlike alopecia, which describes hair loss where formerly there was hair growth, hypotrichosis describes a situation where there wasn't any hair growth in the first place.
Abnormality of hair texture
An abnormality of the texture of the hair.
Subungual hyperkeratosis
A thickening of the stratum corneum in the region beneath the nails.
Small nail
A nail that is diminished in length and width, i.e., underdeveloped nail.
Nail dystrophy
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Comment: Onychodystrophy is a widely used, yet rarely defined term. Onychodystrophy can be caused by congenital nail diseases, systemic disorders, fungal and nonfungal infections, various noninfectious inflammatory dermatologic diseases of the nail unit and tumors. Onychodystrophy can also occur secondarily to systemic drug use.
Ectropion
An outward turning (eversion) or rotation of the eyelid margin. Comment: Ectropion is frequently associated wit overexposure of the palpebral and scleral conjunctiva and cornea. It usually involves the lower eyelid.
Eclabion
A turning outward of the lip or lips, that is, eversion of the lips.
Abnormality of the nares
Abnormality of the nostril.
Abnormality of the outer ear
An abnormality of the external ear.
Carious teeth
Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Comment: It should be noted that it is not always possible to rule out environmental influences and that reports of association between hereditary diseases and susceptibility to dental caries should be regarded with caution.
Open mouth
A facial appearance characterized by a permanently or nearly permanently opened mouth.
Abnormality of the teeth
Any abnormality of the teeth. Comment: Any abnormality of the primary (deciduous) or permanent teeth.
Gingivitis
Inflammation of the gingiva.
Anhidrosis
Inability to sweat.
Hypohidrosis
Abnormally diminished capacity to sweat.
Pruritus
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
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Clinical tests are not available