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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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The Knife-Cut Sign: A Clinical Presentation Of Herpes Infection In Immunocompromised Patients
Posted on November 7, 2014
Philip R. Cohen, MD
Division of Dermatology, University of California San Diego
Conflict of Interest: None Declared

The Knife-Cut Sign: A Clinical Presentation Of Herpes Infection In Immunocompromised Patients Philip R. Cohen, MD Division of Dermatology, University of California San Diego, San Diego, California.Short Title: Knife-Cut Sign Total words: 233 (text) Correspondence to: Philip R. Cohen, MD 10991 Twinleaf Court San Diego, CA 92131-3643713-628-5143 (telephone) mitehead@gmail.com (email) Knife-Cut Sign-Letter to Editor 10-31-14 To-the-Editor: Salvaggio et al [1] described the clinical features of mucocutaneous granulomatous disease associated with Hermansky-Pudlak syndrome and emphasized that the ‘knifelike’ ulcerations in their patient’s inguinal regions were similar to those described in the genital skin of individuals with metastatic cutaneous Crohn disease. Recently an immunosuppressed 57-year-old man with multiple myeloma was described who had linear ulcers of disseminated herpes simplex virus (HSV) infection in the intertriginious areas of his inguinal folds (Figure 1) and the curved supra-auricular fold between his external ear and scalp that were morphologically similar in appearance to a ‘knife-cut’ [2]. Previously, linear erosive skin lesions of HSV infection that demonstrate the ‘knife-cut sign’ have also been reported in 4 immunocompromised patients [3,4]. The term ‘knife-cut’ has been associated with linear lesions of Crohn disease--originally referring to the fissures noted on colonoscopy and subsequently to the ulcerations observed on the vulva [3-5]. Lieb et al [3] used the phrase ‘knife-cut sign’ to describe the intertriginous linear erosive HSV infection lesions in immunocompromised patients; this distinctive presentation can provide a morphologic clue to the diagnosis of HSV infection in immunosuppressed individuals [2-4]. Hence, the clinical differential diagnosis for ‘knifelike’ ulcerations and the ‘knife-cut sign’ includes not only metastatic cutaneous Crohn disease of the genital region, but also ulcerative linear HSV infection of intertriginous and fissured areas in immunocompromised hosts and mucocutaneous granulomatous disease in patients with Hermansky-Pudlak syndrome. References1.Salvaggio HL, Graeber KE, Clarke LE, Schlosser BJ, Orlow SJ, Clarke JT: Mucocutaneous granulomatous disease in a patient with Hermansky-Pudlak syndrome. JAMA Dermatol 2014;150:1083-1087.2.Cohen PR: The ‘knife-cut sign’ revisited: a distinctive presentation of linear erosive herpes simplex virus infection in immunocompromised patients. J Clin Aesthet Dermatol, in press.3.Lieb JA, Brisman S, Herman S, MacGregor J, Grossman ME: Linear erosive herpes simplex virus infection in immunocompromised patients: the “knife-cut sign”. Clin Infect Dis 2008;47:1440-1441.4.LeBoeuf NR, Lieb J, Grossman ME: Linear erosive herpes simplex virus: the ‘knife-cut sign’ in a patient on high-dose corticosteroids. Clin Exp Dermatol 2010; 35:557-558.5. Vettraino IM, Meritt DF: Crohn’s disease of the vulva. Am J Dermatopathol 1995;17:410-413. Legend Figure 1. The ‘knife-cut sign’ associated with linear erosive HSV infection in an immunosuppressed man. The linear ulcer of the left inguinal groove has a ‘knife-cut’ appearance. The well-demarcated ulcers at the base of the penile shaft, on the scrotum and on the pubic area represent typical lesions of HSV infection in an immunocompromised host.

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