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Case Report/Case Series |

Mucocutaneous Granulomatous Disease in a Patient With Hermansky-Pudlak Syndrome

Heather L. Salvaggio, MD1; Kristen E. Graeber, BS2; Loren E. Clarke, MD3; Bethanee J. Schlosser, MD, PhD4,5; Seth J. Orlow, MD, PhD6; Jennie T. Clarke, MD7
[+] Author Affiliations
1Bassett Healthcare Network, Oneonta, New York
2Penn State College of Medicine, Hershey, Pennsylvania
3Dermatology Unit, Myriad Genetics Inc, Salt Lake City, Utah
4Department of Dermatology, Northwestern University, Chicago, Illinois
5Department of Obstetrics and Gynecology, Northwestern University, Chicago, Illinois
6Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York
7Penn State Hershey Medical Center, Hershey, Pennsylvania
JAMA Dermatol. 2014;150(10):1083-1087. doi:10.1001/jamadermatol.2014.147.
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Importance  Hermansky-Pudlak syndrome (HPS) is a rare genodermatosis characterized by oculocutaneous albinism, platelet dysfunction, and in some patients, pulmonary fibrosis and granulomatous colitis. The granulomatous inflammation in the bowel of patients with HPS can be indistinguishable clinically and histologically from that of Crohn disease (CD); however, mucocutaneous granulomatous lesions have not been considered among the typical skin findings of HPS.

Observations  We report a case of an albino woman in her 40s with a history of CD and pulmonary fibrosis who presented with ulcers, plaques, and nodules in the vulva, perineum, inguinal creases, and left axilla. These cutaneous findings had the typical clinical and histologic findings of metastatic cutaneous CD. However, she also had a genetically confirmed diagnosis of HPS.

Conclusions and Relevance  It is unclear whether our patient’s cutaneous findings were due to CD or secondary to HPS. This report reviews the features of HPS and CD, 2 entities characterized by a granulomatous inflammatory reaction pattern but with unique genetic and clinical features, and discusses the possible overlap between the 2 diagnoses.

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Figure 1.
Woman With Hermansky-Pudlak Syndrome (HPS)

Typical cutaneous findings of HPS include hypopigmented skin and hair, as shown here. Blue eyes and horizontal nystagmus are also common features.

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Figure 2.
Mucocutaneous Disease Before and After Treatment

A, The patient had deep, linear, “knifelike” flexural ulceration and vegetative papillomatous vulvar nodules that are typical of genital metastatic cutaneous Crohn disease. B, Nearly complete healing of the vulvar ulcers and reduction in edema and erythema after 12 months of therapy with infliximab and prednisone.

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Figure 3.
Cutaneous Granulomatous Inflammation From the Vulva

A, Histopathologic evaluation of stained sections of vulvar (shown) and axillary (not shown) biopsy samples revealed deep dermal and subcutaneous granulomatous inflammation (hematoxylin-eosin [H&E], original magnification ×100). B, High-power magnification of the lymphoplasmacytic infiltrate with noncaseating granulomas including numerous multinucleated giant cells (H&E, original magnification, ×400).

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