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Dermatologic Manifestations of Hermansky-Pudlak Syndrome Treatment & Management

  • Author: Noah S Scheinfeld, JD, MD, FAAD; Chief Editor: Dirk M Elston, MD  more...
 
Updated: Feb 05, 2016
 

Medical Care

The care of patients with Hermansky-Pudlak syndrome (HPS) involves many medical specialties. Treatment involves minimizing the complications of bleeding; monitoring organ function, which ceroid deposits can impair; compensating for visual impairment; and evaluating skin that, because of albinism, can easily develop skin cancer.

Medications have been used to try to diminish the bleeding diathesis in patients with Hermansky-Pudlak syndrome. The heart and lung function of these patients can be impaired; thus, physical therapy and means for enhancing heart and lung function are useful. Erzin et al[34] noted complicated granulomatous colitis in a patient with Hermansky-Pudlak syndrome, which was successfully treated with infliximab.

Pregnancy can be complicated by Hermansky-Pudlak syndrome as a result of bleeding-related complications. A report in 2008 notes use of 1-deamino-8-arginine-vasopressin during labor in a patient with Hermansky-Pudlak syndrome during 2 successful vaginal births after cesarean delivery.[35]

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Surgical Care

Because patients with Hermansky-Pudlak syndrome bleed easily and have pulmonary compromise, surgery requires the involvement of hematologists and pulmonologists. If platelet aggregation improves with desmopressin, it may be administered in the preoperative period to improve platelet function.

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Consultations

The care of patients with Hermansky-Pudlak syndrome requires consultations from many medical specialties because of its complicated nature. Note the following:

  • Patients should regularly see a dermatologist to monitor for the development of skin lesions.
  • Consultation with a hematologist is useful because patients with Hermansky-Pudlak syndrome have impaired platelet function and a resultant bleeding diathesis.
  • Consultations with a pulmonologist and a cardiologist are needed to manage pulmonary fibrosis and cardiomyopathy and to facilitate pulmonary and cardiac rehabilitation.
  • Consultation with a gastroenterologist is useful because of gastrointestinal findings associated with ceroid deposition. Some patients may have a granulomatous colitis that resembles Crohn disease.
  • Consultation with a geneticist may aid families in understanding the disease and its implications for reproduction and health. The genetic defect involved can be investigated as well.
  • Consultation with a gynecologist is helpful in females with Hermansky-Pudlak syndrome. One study reported menometrorrhagia in 60% of female patients with Hermansky-Pudlak syndrome. In one series, as many as 46% of the female patients with Hermansky-Pudlak syndrome underwent gynecologic surgical procedures as part of treatment of abnormally abundant menstrual bleeding. No maternal mortalities have been reported in female patients with Hermansky-Pudlak syndrome.
  • Consultation with an ophthalmologist can be useful for evaluating visual defects and acuity and instituting appropriate interventions.
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Diet

Osteoporosis has been reported in patients with albinism. Patients may benefit from vitamin D and calcium-enriched diets, but this is not proven or well documented.

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Activity

Because of photosensitivity, patients should avoid sun exposure, use sunblock with a high sun protection factor (SPF), and wear photoprotective glasses (sunglasses). Additionally, because of the increased incidence of bleeding, patients should avoid contact sports and physical trauma.

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Contributor Information and Disclosures
Author

Noah S Scheinfeld, JD, MD, FAAD Assistant Clinical Professor, Department of Dermatology, Weil Cornell Medical College; Consulting Staff, Department of Dermatology, St Luke's Roosevelt Hospital Center, Beth Israel Medical Center, New York Eye and Ear Infirmary; Assistant Attending Dermatologist, New York Presbyterian Hospital; Assistant Attending Dermatologist, Lenox Hill Hospital, North Shore-LIJ Health System; Private Practice

Noah S Scheinfeld, JD, MD, FAAD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Serve(d) as a speaker or a member of a speakers bureau for: Abbvie<br/>Received income in an amount equal to or greater than $250 from: Optigenex<br/>Received salary from Optigenex for employment.

Coauthor(s)

Ann M Johnson, MD Assistant Professor of Clinical Radiology, University of Pennsylvania School of Medicine; Director, Body MRI, Department of Radiology, Children’s Hospital of Philadelphia

Ann M Johnson, MD is a member of the following medical societies: American Roentgen Ray Society, Radiological Society of North America, Society for Pediatric Radiology, International Society for Magnetic Resonance in Medicine, Society of Computed Body Tomography and Magnetic Resonance

Disclosure: Nothing to disclose.

Specialty Editor Board

David F Butler, MD Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: American Medical Association, Alpha Omega Alpha, Association of Military Dermatologists, American Academy of Dermatology, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Phi Beta Kappa

Disclosure: Nothing to disclose.

Jeffrey J Miller, MD Associate Professor of Dermatology, Pennsylvania State University College of Medicine; Staff Dermatologist, Pennsylvania State Milton S Hershey Medical Center

Jeffrey J Miller, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, Society for Investigative Dermatology, Association of Professors of Dermatology, North American Hair Research Society

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Acknowledgements

Smeena Khan, MD Private Practice, Adult and Pediatric Dermatology Associates

Smeena Khan, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

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Photo showing light brown eyes and a red reflection in the eyes.
The face of a Puerto Rican girl with Hermansky-Pudlak syndrome. Note the blond hair and the pale skin.
 
 
 
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