What is it about?
Hermansky-Pudlak Syndrome (HPS) is a genetic disease that affects multiple organs in human. The skin (albinism) and the blood system (bleeding disease with abnormal platelets) are the most obvious manifestations. We described a case of HPS in a 10-year-old Chinese boy in 2008. Unlike the typical case, this child's skin manifestation (partial albinism) was quite subtle.
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Why is it important?
It started with a very casual chat at the end of a morning round. The ward was well lit from the natural sunbeam and the child's fair complexion caught my attention. Jokingly I asked his mother if he was generously covered with sun protection on the beach. It turned out ever since the first time he had been allowed to the beach, there was never a second time. He was under the sun for barely 10 minutes and he went home with a severe sunburn. We realized this was not right. Later an eye doctor had a look and concluded there was ocular albinism. Putting it together with his pre-existing platelet disease, we suspected HPS. Michael (Lap-Gate) managed to find an electron microscope and our suspicion was confirmed after the platelet ultra-structure was visible.
Perspectives
The second case of HPS was reported from China in 2009. Genetic testing was then available for confirmation. In 2019, the same research team from China had elaborated a panel of next-generation sequencing from which 100 genes can be tested at the same time for suspected HPS and other related diseases. To date, there is only a score of Chinese patients diagnosed with HPS. Do not under-estimate the power of casual chatting with your patients. Appreciate the talents around you. Nothing is impossible.
Dr Anselm C Lee
Mount Elizabeth Hospital
Read the Original
This page is a summary of: Chronic ulcerative gastroduodenitis as a first gastrointestinal manifestation of Hermansky-Pudlak syndrome in a 10-year-old child, World Journal of Gastroenterology, January 2008, Baishideng Publishing Group Co., Limited (formerly WJG Press),
DOI: 10.3748/wjg.14.2939.
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