ichthyosis follicularis-atrichia-photophobia syndrome
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Pathology
- the epidermal granular layer is generally well-preserved or thickened at the infundibulum
- hair follicles are poorly developed & tend to be surrounded by an inflammatory infiltrate
- asubgroup of patients is described with lamellar rather than follicular ichthyosis
Genetics
- associated with defects in MBTPS2
Clinical manifestations
- triad of
- follicular ichthyosis
- total or subtotal atrichia
- photophobia (variable degree)
- inconsistent features may include