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Hermansky-Pudlak Syndrome: A Case Study

By Amir Soleimani, Marina A. Janzer, Young Kwang Kim, DMD, DMSc,
Angela R. Kamer, DMD, MS, PhD and Lucretia Depaola-Cefola, DDS, MS

ABSTRACT LROs are organelles similar to lysosomes does not recall what it was. Additionally,
in that they share specific membrane pro- the patient reported ocular problems such
Introduction: Hermansky-Pudlak Syn- teins and have an acidic intralumenal pH, as light sensitivity and oculocutaneous al-
drome (HPS) is a rare genetic disorder that but they derive from different processes and binism manifesting as hypopigmentation
is characterized by a variety of clinical man- modifications in the endosomal system. of the skin and eyes (Figure 1). The patient
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ifestations including, but not limited to, oc- Examples of LROs include,
ulocutaneous albinism, visual impairment, but are not limited to, melano-
inflammatory bowel diseases, and immune somes, platelet alpha granules,
dysfunction. Because these patients can cytotoxic T-lymphocytes, and
present with systemic complications that endothelial cell Weibel-Palade
range in severity, specific modifications for bodies. The inherited gene
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each patient may be necessary in a dental mutation determines which
setting. function is impaired, leading
to the various symptoms/signs
Case presentation: A 35-year-old male pre- observed; for example, muta- Figure 1. Extraoral clinical presentation.
sented to the New York University College tions in melanosomes can lead to albinism also reported mild to moderate ulcerative
of Dentistry for a routine clinical exam. while mutations affecting T-lymphocytes colitis diagnosed in 2018, which is managed
His medical history revealed a diagnosis of can lead to immune deficiency. The clinical by oral mesalamine (1.2 grams BID).
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HPS. After a thorough clinical examination, presentation of the genetic mutation of an
a diagnosis of generalized mild periodon- HPS patient will vary in severity depending Dental History
titis was made and a comprehensive treat- on its location and role in the biosynthesis The patient reported orthodontic treatment
ment plan was formulated, consisting of full of LROs. The mechanism of inheritance of as a child, from ages twelve to fifteen, which
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mouth scaling and root planing and regular HPS is complex and varies greatly depend- included the removal of all four permanent
maintenance visits. ing on the specific gene inherited. Here, we first premolars. He was eighteen years old
present a case of a 35-year-old male with when he had his last dental visit.
Conclusion: HPS is a rare genetic disorder mild HPS.
that may require significant dental modifica- Extraoral Exam
tions. Treatment modifications include pro- CLINICAL REPORT Extraorally, the patient displayed signs of
tective eyewear, local hemostatic measures, A 35-year-old male of Puerto Rican descent albinism of his hair, skin, and eyes (Figure
oral cancer screenings and consultation with presented to New York University College 1). The patient did not display any asymme-
physicians. Given the rarity of HPS, and the of Dentistry for a routine periodic exam. try or lymphadenopathy. Temporomandibu-
consequent lack of published literature re- The patient presented with a chief com- lar joint exam findings and all other aspects
garding dental care for HPS patients, this plaint of, “I need a dental checkup,” and had of the extraoral exam were within normal
case report aims to contribute to the litera- no other outstanding concerns. limits.
ture available on the dental presentation and
management of HPS patients. Medical History Intraoral Exam
Medical history revealed that the patient was Intraorally, the patient had multiple amal-
KEY WORDS: Hermansky-Pudlak Syn- diagnosed with HPS when he was approxi- gam restorations in the maxillary and man-
drome, dental treatment modification mately five to ten years old. The inherited dibular molars (Figures 2-4). The buccal
variant of HPS was unknown to the patient mucosa exhibited bilateral linea alba. There
INTRODUCTION and no genetic analysis has been performed.
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First reported in 1959, Hermansky-Pudlak The patient confirmed that his siblings sim-
Syndrome is a rare autosomal recessive dis- ilarly display mild forms of HPS.
ease affecting protein and organelle func-
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tion. It is believed to affect 1 in 500,000 to In general, the patient reported mild symp-
1 in 1,000,000 people in the general popula- toms of HPS. However, he described re-
tion, but more frequently among the Puerto quiring hemostatic premedication prior to
Rican population, where prevalence is esti- extractions required for orthodontics as a
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mated to be around 1 in 1,800. teenager. He reported that an intravenous Figure 2. Pre-treatment intraoral
premedication was administered although he presentation.
HPS patients may present with a wide vari-
ety of symptoms, including oculocutaneous
albinism, prolonged bleeding, pulmonary fi-
brosis, granulomatous colitis, and immuno-
deficiency; the symptoms and their severi-
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ty vary depending on the inherited mutation. Figure 3. Pre-treatment intraoral series of the maxilla.
To date, ten different gene mutations have
been implicated in HPS, all of which encode
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for lysosome-related organelles (LROs).

www.nysagd.org l Fall 2021 l GP 24 Figure 4. Pre-treatment intraoral series of the mandible.