Hermansky-Pudlak Syndrome type 11 (HPS11) is characterized by:
• variable hypopigmentation of the skin, hair and eye
• increased risk of skin cancer
• classical ocular features encountered in all forms of albinism, including
o nystagmus
o foveal hypoplasia
o iris transillumination
o retinal hypopigmentation
o reduced visual acuity
o photophobia
o strabismus
o ametropia
• bleeding diathesis characterized by easy bruising, prolonged bleeding time, epistaxis,
• menorrhagia, excessive blood loss after dental extraction, surgery, deliveries
• abdominal pain in one patient
• dyspnea in one patient
• recurrent infections (pneumonia, herpes, conjunctivitis) in one patient
Clinical signs vary from on patient to the other in HPS11. The number of patients (n=5, including 2 from the same family) described to date is small, which does not allow to draw any conclusion about severity.
BLOC1S5