(HPS) is an autosomal recessive disorder caused by mutations in one of ten different genes that lead to platelet dense granule deficiency.
Challenging cross-sectional images at my community/university hybrid hospital today alone included--no exaggeration--a spontaneously ruptured spleen in a patient with lymphoma; an atypical presentation of aspergillosis in a patient with vasculitis and emphysema; appendiceal mucoceles without and with appendicitis; complications of pulmonary embolism; and Hermansky-Pudlak syndrome
(Good thing I went to that RSNA film panel two years ago--I was all over that last scan).
Pulmonary cutaneous syndromes, such as sarcoidosis, Hermansky-Pudlak syndrome
, tuberous sclerosis, neurofibromatosis, dyskeratosis congenita, scleroderma, systemic lupus erythematosus, and dermatomyositis, are reported to be associated with interstitial lung involvement (4).
Originally described by Hermansky and Pudlak in 1959, (77) Hermansky-Pudlak Syndrome
(HPS) is caused by a related group of autosomal recessive disorders that are characterized by the triad of oculocutaneous albinism, bleeding diathesis due to a platelet storage pool deficiency, and lysosomal accumulation of ceroid lipofuscin.
Differential diagnosis includes Hermansky-Pudlak syndrome
and Griscelli syndrome.
The Puerto Rican ancestry is a mix of African, European, and American Indian, "los Tainos." Several genetic diseases, including Hermansky-Pudlak syndrome
(HPS 1 and 3), are found with relatively high frequency on the island of Puerto Rico (1)(2).
Donna Appell, a registered nurse and founder of the Hermansky-Pudlak Syndrome
(HPS) Network, writes in Chapter 4 about the importance of screening for this rare variant of albinism.
(HPS) is an autosomal recessive disease characterized with oculocutaneous albinism and platelet aggregation disorder.
Bonifacino, "Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome
due to mutations in the [beta]3A subunit of the AP-3 adaptor," Molecular Cell, vol.
The majority of these comprise the various forms of Hermansky-Pudlak syndrome
. To date, at least nine forms have been described, each due to mutations in a different gene.