san diego dermatological society annual meeting at ucsd .professor, departments of dermatology and

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  • San Diego Dermatological Society

    Annual Meeting at UCSD

    October 15, 2015

    Hosted by UCSD Medical Center

    Department of Dermatology

  • Dedicated to the memory and enduring legacy

    of

    Dr. Terry OGrady Teacher. Physician. Pathologist. Surfer. Healer. Friend.

    Oceans

    by Edward Louis Severson III

    hold on to the thread the currents will shift guide me towards you know something's left and we're all allowed to dream of the next time we touch...

    you don't have to stray two oceans away waves roll in my thoughts hold tight the ring... the sea will rise... please stand by the shore... I will be... I will be... there once more.

  • ORDER OF EVENTS

    5:45 6:15 PM Patient Viewing

    3rd Floor Medical Offices South (Ambulatory Care Center)

    UCSD Hillcrest Hospital

    6:15 7:00 PM Buffet Dinner followed by San Diego Dermatological Society Business Meeting

    1st Floor Main Auditorium

    UCSD Hillcrest Hospital

    7:00 8:00 PM Speaker Introduction: Richard Gallo, MD, PhD

    Annual Dr. Terry OGrady Lectureship in Dermatopathology

    Recent Advances in Dermatopathology with Relevance to Clinical Dermatology

    Clay Cockerell, MD

    Professor, Departments of Dermatology and Pathology,

    University of Texas Southwestern Medical Center

    8:00 9:00 PM Patient Case Presentations: led by Taraneh Paravar, MD

  • CASE #1 NOTE: TRUNK, EXTREMITIES

    PATIENT INITIALS: MR AGE: 31 SEX: M RACE: HISPANIC /CAUCASIAN PRESENTED BY: Robert Dorschner, MD, Laura Romero, MD HISTORY: MR is a 31-year-old otherwise healthy male who presented with an eleven-year history of a rash. It started on the trunk and proximal extremities in 2004 while in Afghanistan. Since, it has slowly spread to involve the distal extremities and feet. He noted that it was mildly pruritic in hot, dry weather, but is otherwise asymptomatic. He denied any involvement of the palms, soles, oral mucosa or genitals. He also denied any gastrointestinal symptoms, including diarrhea, history of anaphylaxis, bone pain or weight loss. He did endorse chronic joint pains, for which he used meloxicam. Biopsies demonstrated a dermal infiltrate consisting of mast cells, confirming the clinical diagnosis of mastocytosis. Due to the extent of disease, as well as CD25 positive staining on biopsy (which correlates with increased risk of systemic disease), he was worked up by Hematology-Oncology for systemic involvement, which has been negative. PAST MEDICAL HISTORY: Post-traumatic stress syndrome, back pain, knee pain, alcohol abuse (sober over 1 year) MEDICATIONS: Epi-Pen PRN, montelukast 10mg daily, cetirizine 10mg daily, ranitidine 150 mg nightly, multivitamin daily ALLERGIES: NKDA FAMILY HISTORY: No history of skin disease PHYSICAL EXAMINATION:

    Red-brown macules and papules on trunk and extremities. Positive Dariers sign.

    LABORATORY DATA: CBC and CMP unremarkable; Tryptase 17.6 (ULN 11); CT chest/abdomen/pelvis unremarkable; bone marrow biopsy normal; C-Kit mutation not detected PATHOLOGY: Right superior and right posterior shoulder punch biopsies:

    Both specimens demonstrate an upper dermal infiltrate of mononuclear cells, consistent with mast cells.

    Staining for tryptase highlights these cells and CD25 staining is positive.

  • DIAGNOSIS: Urticaria pigmentosa TREATMENT:

    Antihistamines and anti-leukotriene Epi-Pen Extensive discussion of mast cell degranulation triggers for him to avoid Monitoring

    DISCUSSION: Presented at the end of Case 2.

  • CASE #2 NOTE: TRUNK, EXTREMITIES PATIENT INITIALS: SL AGE: 36 SEX: F RACE: HISPANIC PRESENTED BY: Robert Dorschner, MD, Robert Lee, MD, PhD, Laura Romero, MD HISTORY: SL is a 36-year-old otherwise healthy female who presented with a one-year history of a rash. It began on the trunk and spread to her arms and legs. She was concerned it was related to tanning bed use. The lesions were asymptomatic and her concerns were cosmetic. She endorsed mild diarrhea, but was on antibiotics for H. Pylori eradication at the time. She denied other gastrointestinal symptoms, including nausea/vomiting, history of anaphylaxis, bone pain or weight loss. Biopsies demonstrated a dermal infiltrate consisting of mast cells, confirming the clinical diagnosis of mastocytosis. Due to the extent of disease, diarrhea and elevated tryptase, she was evaluated by Hematology-Oncology for systemic involvement: a diagnosis of systemic mastocytosis with C-Kit D816V mutation was made. PAST MEDICAL HISTORY: Dyspepsia s/p H. Pylori eradication MEDICATIONS: Epi-Pen PRN, cetirizine 10mg daily, ranitidine 150 mg nightly ALLERGIES: NKDA FAMILY HISTORY: No history of skin disease PHYSICAL EXAMINATION:

    Red-brown macules and papules on trunk and extremities. Positive Dariers sign.

    LABORATORY DATA: CBC with eosinophils of 12; CMP with total bilirubin 1.81 (ULN 1.2); Tryptase 65.5 (ULN 11); C-Kit mutation positive for D816V; bone marrow biopsy with numerous mast cells, consistent with systemic mastocytosis, but no other hematologic disease; cytogenetics with normal karyotype and FISH. PATHOLOGY: Left medial thigh punch biopsy:

    Mild superficial perivascular infiltrate composed of lymphocytes and mast cells. Staining for CD117 highlights mast cells in the superficial dermis. CD25 staining is

    essentially negative.

  • DIAGNOSIS: Systemic mastocytosis TREATMENT:

    Antihistamines Epi-Pen Consultation with Gastroenterology for endoscopy (pending) Extensive discussion of mast cell degranulation triggers for her to avoid

    DISCUSSION: Mastocytosis is a spectrum of disorders characterized by the accumulation of abnormal mast cells in various tissues, including the skin. The majority of patients (55%) present before age 2 and later onset is correlated with an increased risk of systemic involvement (reported at 41-97% of adult-onset cases). In pediatric cases, it is often limited to the skin and resolves in adolescence. In the adult population, patients tend to have systemic disease, which most frequently runs an indolent course. Those with indolent systemic mastocytosis tend to be younger and present with urticaria pigmentosa-like lesions. Many patients are asymptomatic or have minor symptoms related to histamine release, which can be triggered by NSAIDs, exercise, heat, alcohol, salicylates, polymyxin B or other medications or anesthetics. About 1-3% of indolent systemic mastocytosis patients may progress to more aggressive forms and in adults presenting with systemic mastocytosis, up to 40% may have associated clonal non-mast cell hematologic disorder. For this reason, follow up is important. The diagnosis of cutaneous mastocytosis is typically accomplished with clinical history and biopsy demonstrating a mast cell infiltrate. Serum tryptase levels and C-Kit mutational analysis, as well as a thorough review of systems, can help identify those at risk of systemic mastocytosis. To diagnose systemic mastocytosis, patients must meet either one major and one minor criterion, or 3 minor criteria. The major criterion is the presence of mast cell infiltrates in an extracutaneous tissue usually bone marrow. Minor criteria include: atypical mast cell morphology (spindled cells); aberrant immunophenotype (eg. CD25 expression); activating mutations at codon 816 of the Kit gene; and persistent serum tryptase over 20ng/ml. 60-70% of adults have a mutation in C-Kit, most frequently D816V, however C-Kit mutations are uncommon in children. Treatment is typically symptomatic, whether in disease limited to the skin or indolent systemic disease. The mainstays are avoidance of triggers, antihistamines or anti-leukotrienes and an Epi-Pen in case of anaphylaxis. Steroids (topical and intralesional), as well as PUVA, can also be used to treat skin lesions. Cromolyn can treat GI symptoms. In more aggressive systemic disease, or mast cell leukemia, various chemotherapy regimens, interferon therapy or bone marrow transplantation may be utilized, although most therapies are palliative.

  • REFERENCES: Berezowska S, Flaig MG, Rueff F et al. Adult-onset mastocytosis in the skin is

    highly suggestive of systemic mastocytosis. Mod Pathol. 2014;27:19-29. Bologna, Dermatology. 3rd edition. Galli SJ. New concepts about the mast cell. N Engl J Med. 1993;328:25765. Gruchalla RS. Southwestern Internal Medicine Conference: mastocytosis:

    developments during the past decade. Am J Med Sci. 1995;309:32838. Kettelhut BV, Metcalfe DD. Pediatric mastocytosis. Ann Allergy. 1994;73:197202. Lee Y, Wood P, Soyer HP. Indolent systemic mastocytosis: a case and review of

    the current available treatment options. Dermatol Online J. 2013;19:18562. Longley J, Duffy TP, Kohn S. The mast cell and mast cell disease. J Am Acad

    Dermatol. 1995;32:54561[Published erratum in J Am Acad Dermatol 1995; 33:523].

    Pardanani, A. Systemic mastocytosis in adults: 2012 update on diagnosis, risk stratification and management. Am J. Hematol., 87: 401-411.

  • CASE #3 NOTE: PALMS, SOLES

    PATIENT INITIALS: MJ AGE: 32 SEX: F RACE: CAUCASIAN PRESENTED BY: Keith Roby, MD, Corey Frucht, MD, PhD, Taraneh Paravar, MD HISTORY: MJ is a 32-year-old healthy woman with a past medical history significant for Gilberts Disease and a left upper lobe bronchial carcinoid tumor at age 27, status post lobectomy, who presented for evaluation of a cyst on her back and was incidentally found to have scattered, non-painful papules on her hands as well as thickening of the soles of her feet. Review of systems was unremarkable. She denied deafness. The patient only noted mild discomfort of her feet wit

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