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ichthyosis follicularis-atrichia-photophobia syndrome
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
a) follicular ichthyosis
b) total or subtotal atrichia
c) photophobia (variable degree)
- inconsistent features may include
a) growth & psychomotor retardation
b) aganglionic megacolon
c) seizures
d) nail dystrophy
General
ichthyosis; erythrokeratodermia variabilis
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 308205
References
OMIM :accession 308205