Clinical Characteristics

Clinical Characteristics
Pathogenic variants in the SREBF1gene cause a multisystem disorder.

All individuals with a mutation in the SREBF1 gene have these features:
•    Non-scarring diffuse alopecia
o    Affects mainly the scalp, although eyebrows and eyelashes can be involved
o    Childhood onset
o    Progressive

•    Erythroplakia (fiery red gum/palate)
o    Oral mucosa erithema (redness)
o    Tongue can be involved

Most Individuals with a mutation in the SREBF1gene have also these features:
•    Ocular anomalies
o    Cataract
o    Keratitis
o    Photophobia

•    Skin/mucosa anomalies
o    Follicular keratosis
o    Perineal erythema
o    Psoriasiform plaques
o    Tongue fissure
o    Ichthyosis follicularis
o    Angular fissuring (cheilitis)

Other less frequently reported clinical features are:
•    Nystagmus
•    Absent eyebrows
•    Blindness
•    Palate white plaques/candidiasis
•    Recurrent infections
•    Diarrhea
•    Intesrtitial lung disease
•    Oesophageal anomalies
•    Chronic rhinitis
•    Nail dystrophy
•    Hematuria
•    Eosinophilia