Hermansky-Pudlak syndrome

Author: Dr Harriet Cheng, Dermatology Registrar, Greenlane Hospital, Auckland. Chief Editor: Dr Amanda Oakley, Dermatologist, Hamilton, New Zealand, June 2014.

What is Hermansky-Pudlak syndrome?

Hermanksy-Pudlak syndrome is an inherited disorder due to an abnormality of lysosome-related organelles. Nine subtypes are described. It is characterised by:

What are lysosome-related organelles?

Lysosomes are organelles (structures found within cells) that contain substances capable of breaking down various structures such as proteins, lipids, carbohydrates and nucleic acids (components of DNA).

Lysosome-related organelles are structures found within specific types of cells (eg melanocytes) that share some similarities with lysosomes. They have various functions, including involvement in processes of pigmentation, blood clotting and immunity.

What are the clinical features of Hermansky-Pudlak syndrome?

Oculocutaneous albinism

Cutaneous findings in Hermansky-Pudlak syndrome include:

Visual impairment

Visual disorders in Hermanksy-Pudlak syndrome include:

Other symptoms

Systemic conditions associated with Hermansky-Pudlak syndrome include:

Who gets Hermansky-Pudlak syndrome?

Hermansky-Pudlak syndrome is inherited. The pattern of inheritance is autosomal recessive, so the parents of affected children rarely have the disease themselves. Each parent carries at least one copy of the disease gene. If each parent is a carrier, the chance of their offspring having Hermasnky-Pudlak syndrome is 1 in 4.

Presently (2014), at least 7 different genes causing Hermansky-Pudlak syndrome have been identified. Affected genes (BLOC genes) encode components of the biogenesis of lysosomal organelles complexes.

How is Hermansky-Pudlak syndrome diagnosed?

The diagnosis of Hermansky-Pudlak syndrome may be suspected on clinical grounds when a child presents with unexpectedly light-coloured hair, skin and eyes associated with a tendency to bleeding. Electron microscopy of platelets demonstrates virtual absence of dense bodies, which are required for normal platelet aggregation. Genetic linkage studies may identify the underlying mutation.

What is the treatment for Hermansky-Pudlak syndrome?

As this syndrome is the result of a defective gene no curative treatment is possible.

Important management considerations include:

Related information

Email Newsletter

Would you like to receive DermNet updates by email?

Submit your images

We're seeking high-quality photos of skin diseases.  


Skin lesion photography

Watch Dr Amanda Oakley presenting "Skin lesion photography" at The Australasian Skin Cancer Congress.

Subscribe to our mailing list

* indicates required
DermNet NZ Newsletter