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keratosis follicularis spinulosa decalvans (Siemens-1 syndrome)
Epidemiology: rare
Pathology:
- affects the skin & the eye
Genetics:
- X-linked (most) but genetically heterogeneous
- associated with defects in SAT1
- associated with defects in MBTPS2
Clinical manifestations:
- affected men show thickening of the skin of the neck, ears, & extremities, especially the palms & soles
- loss of eyebrows, eyelashes & beard
- thickening of the eyelids
- blepharitis & ectropion
- corneal degeneration
- clinically heterogeneous
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 308800
References
OMIM :accession 308800