IllnessAlopcia cicatricial, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for cicatricial alopecia comprising 5 curated genes
ID
AP1324
Number of genes
4
Accredited laboratory test
Examined sequence length
2,6 kb (Core-/Core-canditate-Genes)
5,7 kb (Extended panel: incl. additional genes)
5,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Informations about the disease
Clinical Comment
Occurring during infancy/childhood, predominantly affecting males, with diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows, eyelashes + photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma
Synonyms
- Alias: Familial cicatricial alopecia
- Alias: IFAP [Ichthyosis Follicularis, Atrichia + Photophobia] (MBTPS2)
- Alias: Keratosis follicularis spinulosa decalvans
- Alias: Narbige Alopezie, Haarausfall mit Narbenbildung
- Allelic: Atrioventricular septal defect 3 (GJA1)
- Allelic: Craniometaphyseal dysplasia, AR (GJA1)
- Allelic: Erythrokeratodermia variabilis et progressiva 3 (GJA1)
- Allelic: Hypoplastic left heart syndrome 1 (GJA1)
- Allelic: Keratosis follicularis spinulosa decalvans, XL (MBTPS1)
- Allelic: Oculodentodigital dysplasia (GJA1)
- Allelic: Oculodentodigital dysplasia, AR (GJA1))
- Allelic: Osteogenesis imperfecta, type XIX (MBTPS1)
- Allelic: Syndactyly, type III (GJA1)
- Allelic: T-cell lymphopenia, infantile, with/-out nail dystrophy, AD (FOXN1)
- BRES{H}EK [Brain anomalies, Retardation, Ectodermal dysplasia, Skeletal, Ear/eye + Kidney anomalies]
- IFAP syndrome with/-out BRESHECK syndrome (MBTPS2)
- Ichthyosis, congenital, AR 13 (SDR9C7)
- Olmsted syndrome, XL [mutilating palmoplantar keratoderma] (MBTPS2)
- Palmoplantar keratoderma with congenital alopecia (GJA1)
- T-cell immunodeficiency, congenital alopecia, nail dystrophy (FOXN1)
Heredity, heredity patterns etc.
- AD
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined