Faculty Bibliography

Both severe combined immunodeficiency (SCID) syndrome and Duchenne muscular dystrophy (DMD) are rare conditions. Patients with X-linked SCID have pathogenic variants of the IL2RG gene, resulting in defective cellular and humoral immunity. DMD is also an X-linked condition caused by a dystrophin gene mutation, causing progressive proximal muscle weakness. We present a patient diagnosed with SCID at birth who underwent matched unrelated donor bone marrow transplant (BMT). Several months after, he was noted to have persistently elevated aminotransferases. Despite a lack of clinical signs of graft versus host disease (GvHD), a liver biopsy revealed mild GvHD. Creatine kinase (CK) levels of >19,000 U/L prompted evaluation for muscular dystrophies. Given BMT, genetic analysis was not an option. Muscle biopsy confirmed DMD. This case highlights the complexity of diagnosing and managing uncommon genetic conditions through a multidisciplinary team-based approach. This case is only the second reported case of SCID and DMD together.

Sebaceous cell carcinoma is an uncommonly encountered cutaneous malignancy. Often considered a great masquerader, sebaceous cell carcinoma arises from meibomian glands and can have a poor prognosis if not diagnosed early. In this case report, we present a patient with sebaceous cell carcinoma who presented to our emergency department with a clinical presentation that was concerning for orbital cellulitis. The patient was initially started on intravenous antibiotics. However, workup, including imaging and laboratory results, pointed toward malignancy as the diagnosis. The patient underwent an incisional biopsy and pathology confirming the diagnosis of sebaceous cell carcinoma. We engaged in further discussion of this peculiar cutaneous masquerader, differential diagnoses, and important considerations.

A 37-year-old woman with uncontrolled type 1 diabetes mellitus and end-stage renal disease presented to our hospital with 10 days of severe left thigh pain. Physical examination revealed warmth, swelling, and tenderness of the left anterior and medial thigh. Workup revealed a mildly elevated creatinine kinase. Magnetic resonance imaging without contrast revealed diffuse extensive soft tissue edema and a heterogeneous, tubular fluid collection within the adductor magnus. Needle aspiration revealed hematoma and myonecrosis. Cultures and cytology were negative. A diagnosis of diabetic myonecrosis was made. Myonecrosis is a rare complication of diabetes, and the gold standard for diagnosis is tissue biopsy. However, magnetic resonance imaging may be sensitive and specific for diagnosis and prevent morbidity.

BACKGROUND:Although studies have investigated the risk of second primary malignancies (SPMs) associated with lymphoma of various sites, limited studies have investigated this risk in patients with lymphoma originating within the ocular adnexa. We conducted a retrospective study to assess incidence of secondary malignancies in patients with a prior diagnosis of ocular adnexal lymphoma (OAL) and to determine latency periods and age-groups at increased risk for SPM occurrence. METHODS:Retrospective analysis was performed on data obtained from Surveillance, Epidemiology, and End Results (SEER) 9 database. Patients with an initial primary malignancy diagnosis of OAL between 1973 and 2015 were included in the study. Standardized incidence ratios (SIR) and excess absolute risks (EAR) compared to a SEER reference population with similar sex, race, age, and calendar year were computed for SPMs. Excess absolute risk is per 10,000 individuals; alpha of 0.05 was used. RESULTS:Of 1834 patients with primary ocular adnexal lymphoma, 279 developed a secondary malignancy during average follow-up of 110.03 months (+/- 88.46), denoting higher incidence than expected (SIR 1.20; 95% CI, 1.07 to 1.35; EAR 30.56). Amongst the primary lymphoma cohort, 98.7% (1810/1834) of patients had non-Hodgkin's lymphoma and amongst those that developed secondary malignancies, 99.6% (278/279) had non-Hodgkin's lymphoma. Patients exhibited increased incidence of lymphohematopoietic and non-lymphohematopoietic second malignancies and no secondary malignancies of the eye or orbit. Patients had increased incidence of secondary malignancies in the first year (SIR 2.07; 95% CI, 1.49 to 2.79; EAR 150.37) and 1-5 years following lymphoma diagnosis (SIR 1.24; 95% CI, 1.01 to 1.51; EAR 34.89). Patients with various OAL subtypes demonstrated differing patterns of site-specific and overall SPM risk. CONCLUSIONS:Patients with prior diagnosis of ocular adnexal lymphoma possess increased risk of hematologic and non-hematologic secondary malignancies. Risk of secondary malignancy could vary by lymphoma subtype. Patients with ocular adnexal lymphoma may benefit from regular surveillance to promote early detection of second primary malignancies.

Halo nevi (HN) are acquired melanocytic nevi circumferentially surrounded by a depigmented patch. HN are commonly associated with vitiligo and can be associated with uveal, mucosal, or cutaneous melanoma in certain patient populations. HN may also have localized leukotrichia of terminal hair overlying the nevus. We report a less common triad of rapid-onset HN, nonsegmental vitiligo, and premature hair graying (PHG) of scalp hair.