Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents-A case study.

ABSTRACT:

Background and aims

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism (OCA) and platelet storage pool deficiency. The HPS-2 subtype is distinguished by neutropenia, and little is known about its periodontal phenotype in adolescents. AP3B1 is the causative gene for HPS-2. A 13-year-old Chinese girl presented to our department suffering from gingival bleeding and tooth mobility. Her dental history was otherwise unremarkable. Suspecting some systemic diseases as the underlying cause, the patient was referred for medical consultation, a series of blood tests, and genetic tests. In this case study, periodontal status and mutation screening of one HPS-2 case are presented.

Methods

Blood analysis including a complete

SUBMITTER: Chen J 

PROVIDER: S-EPMC9343695 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature