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Urticaria Pigmentosa: a Case Report and Review of Current Standards in the Diagnosis of Systemic Mastocytosis

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Urticaria Pigmentosa: a Case Report and Review of Current Standards in the Diagnosis of Systemic Mastocytosis Urticaria Pigmentosa: A Case Report and Review of Current Standards in the Diagnosis of Systemic Mastocytosis Riddhi J. Shah, DO,* Mark A. Kuriata, DO, FAOCD** *Dermatology Resident, 2nd year, MSUCOM/Lakeland Regional Medical Center, St. Joseph, MI **Dermatology Residency Program Director, MSUCOM/Lakeland Regional Medical Center, St. Joseph, MI Abstract Mastocytosis is a group of diseases that is characterized by mast-cell infiltration of the skin. The cutaneous forms of the disease are most identifiable, yet it is important to recognize the progression to systemic disease due to the eaffect on morbidity and mortality. We Our goal is to describe a case of cutaneous mastocytosis as well as review the current standards in diagnosis and management of systemic mastocytosis. Introduction patient had several bouts of loose stools. This and spleen did not reveal any organomegaly. Mast-cell disease is a rare disorder, primarily was accompanied by bloating and indigestion, Muscle strength and tone appeared to be within of childhood, that is usually self-resolving. which occurred 30 minutes after a meal. A normal limits. There were no palpable lymph Approximately two-thirds of cases are limited to colonoscopy was performed one year prior at an nodes in the neck, axillae or groin regions. outside facility, and it was within normal limits. the skin. The most common forms of cutaneous Our differential diagnosis included systemic However, no biopsies were performed to look mastocytosis include: mastocytoma, urticaria mastocytosis as well as carcinoid syndrome, for mast-cell infiltration of the digestive tract. pigmentosa, telangiectasia macularis eruptiva pheochromocytoma, inflammatory bowel disease, Our patient also had sharp, intermittent, left perstans, maculopapular cutaneous mastocytosis, urticaria, and myeloproliferative disorder. and diffuse cutaneous mastocytosis.1 Our upper quadrant abdominal pain that radiated to Through a collaborative effort between case report presents a patient with a history the left chest and shoulder. Remaining review of dermatology and hematology/oncology, an of urticaria pigmentosa (UP) that had not systems was negative except for occasional mild extensive workup to rule out SM was performed. resolved as expected. Furthermore, she started headaches and lightheadedness. She admitted Initially, punch biopsies of the right shin and to develop symptoms that raised concern for to mild generalized pruritus for which she left dorsal forearm revealed cutaneous mast-cell possible systemic mastocytosis (SM). Based took hydroxyzine and cimetidine as needed. In disease. Stains were positive for mast-cell tryptase upon our literature search, systemic mastocytosis addition, she experienced easy flushing, which and CD117 (Figure 5, p. 56). Complete blood is an extremely rare diagnosis, but a potentially was more pronounced while exercising and count with differential, comprehensive metabolic life-threatening one. This paper will help Uthis drinking alcohol. profile, lactate dehydrogenase, fractionated dermatologists become more familiar with The patient had a past medical history of mild catecholamines, IgE level, and uric acid were worrisome signs/symptoms, diagnostic criteria, asthma and attention deficit hyperactivity all within normal limits. Serum tryptase level and treatments for systemic disease. disorder.. Social history included rare alcohol use, was 14.8. Additionally, she underwent imaging smoking one1 pack of cigarettes per day, and no studies including a CT scan of the chest, illicit drugs. She was also exposed to different abdomen, and pelvis, abdominal ultrasound, and Case Report cleaning solvents daily as a carpet cleaner. Family A 20-year-old Caucasian female with a history skeletal survery, which were all unremarkable. history wasis non-contributory. of urticaria pigmentosa since childhood A bone-marrow biopsy was performed andthat presented to our office for initial evaluation of The physical examination revealed a subtle but showed at least 15 clusters of dense mast-cell worsening symptoms involving multiple organ diffuse, reddish-purple, mottled, reticular, macular aggregates (Figure 6, p. 56). However, flow systems. She complained of bone pain often discoloration involving the bilateral upper and cytometry did not reveal expression of CD2 or localized to the bilateral knees. In addition, the lower extremities, chest, abdomen, and back CD25 on CD117+ mast cells. Additionally, only (Figure 1-4, p. 55/56). about 10% of the mast cells were spindle-shaped Figure 1 The head and neck within the bone marrow smear as opposed to were uninvolved. Upon greater than 25%. Furthermore, our patient tested stroking lesions on the negative for KIT D816V mutation. bilateral forearms, the Taking into account the clinical presentation, areas became swollen, positive histopathology, and laboratory and itchy, and red, illiciting bone-marrow findings, our patient did not meet a positive Darier’s sign. the full criteria for the diagnosis of SM. For UP, Examination of the liver Figure 2 SHAH, KURIATA Page 55 Figure 3 Figure 4 cell mediators in cutaneous and extracutaneous tissues. Symptoms that may raise suspicion include rhinitis, vomiting, abdominal pain, bloating, diarrhea, flushing, pruritus, bone pain, fever, chills, weight loss, tachycardia, headaches, syncope, difficulty concentrating, anxiety, and depression. Physical assessment may reveal organomegaly, predominately involving the liver or spleen, lymphadenopathy, gastroduodenal ulcerations, and signs of end-organ liver disease such as elevated transaminases, ascites, and portal hypertension in advanced disease forms.6 In addition, one should investigate for skin findings consistent with reddish-brown, maculopapular, plaque-like, bullous or nodular lesions, diffuse skin involvement, solitary mastocytoma, telangiectasias, and positive Darier’s sign. These findings may indicate a new or prior diagnosis of cutaneous mastocytosis and will help with the workup for systemic disease.7 The next step involves obtaining a skin biopsy. Special stains including Wright-Giemsa, Toludine blue, tryptase, and CD117 should be 8 the patient was started on histamine H2-receptor Mastocytosis is more common in children than ordered. In addition, laboratory investigation antagonists, ranitidine 150 mg by mouth twice adults. Over 50% of children are diagnosed prior should include complete blood count with daily and famotidine 20 mg by mouth daily, as to two years of age, and disease is usually limited to differential. The peripheral blood picture can show well as a mast-cell stabilizer, cromolyn 200 mg the skin. Most children will spontaneously resolve anemia, thrombocytopenia, and leukocytosis. by mouth three times daily to control mast- by adolescence. In contrast, initial diagnosis of Some patients with SM may also present with cell activation. Additionally, she was given an cutaneous mastocytosis as an adult increases elevated eosinophils, basophils, and/or platelets. epinephrine autoinjector in case of anaphylactic the likelihood of developing systemic disease. Myeloproliferative or myelodysplastic changes reactions. We suggested she also minimize The median age at diagnosis of SM in adults can also be seen. exposure to cleaning solvents as this may be a is 55 years, with a slight male predominance. Occasionally, it may be feasible to obtain imaging potential aggravating factor. On follow-up, our The incidence of systemic disease is extremely studies in order to identify the extent or stage of patient’s symptoms had improved. Cetirizine, a rare.4 Neither cutaneous nor systemic forms of disease. For example, computed tomography scan, histamine H1-receptor antagonist, was also added mastocytosis appear to be inherited. endoscopy/colonoscopy, or abdominal ultrasound to the regimen. In addition, we are considering Mutations of KIT have been implicated in the may be considered in patients who present with phototherapy as an adjuvant treatment. pathogenesis of both cutaneous and systemic primarily gastrointestinal complaints. Skeletal The patient continues to be closely monitored mastocytosis. Mast cells express c-kit tyrosine surveys and dual-energy X-ray absorptiometry by both dermatology and oncology for potential kinase receptor on their surface, which serves as scans may be helpful in patients with suspected bone involvement such as osteoporosis, osteolysis, risk of full-blown SM in the future. There is a site for attachment of stem-cell factor (SCF). 8 a likelihood that her disease will continue to SCF is a growth factor needed for the normal and evaluation for pathological fractures. progress. As a result, the patient was advised to development and expansion of mast cells. In However, it is not necessary to evaluate follow up every four to six months for repeat labs. mastocytosis, there is a pathologic activation of extramedullary tissues for the presence of mast cells to make the diagnosis of SM if the bone There is also a possibility that the patient may the c-kit receptor, leading to unregulated clonal 6 exhibit a wild-type KIT mutation other than expansion and activation of mast cells. The most marrow is being examined. D816V, and it may be prudent to include the full common mutation in systemic mastocytosis is Bone-marrow analysis is of crucial importance KIT mutation-panel testing at a future visit. on codon 816 replacing aspartic acid for valine. in the diagnosis of SM. The presence of multiple This is seen in up to 93% percent of patients aggregates of mast cells in
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