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

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/308800