Risk of anaphylaxis in adult patients with systemic mastocytosis preceded by urticaria pigmentosa. Report of three cases

Abstract Background: The diagnosis of mastocytosis remains challenging. Given that the disease has a low prevalence and its clinical presentations range from asymptomatic to severe life-threatening conditions, physicians’ lack of awareness of mastocytosis is the main barrier to its diagnosis. Skin involvement is common. In adults, skin lesions are highly suggestive of systemic mastocytosis; however, clinical demonstration of lesions is difficult if they are minimal in number. In Asian, who had dark brown skin color, urticaria pigmentosa was not easy to identify. Here we present the case of indolent systemic mastocytosis with an unusual urticaria pigmentosa. Case presentation: A 48-year-old man had had recurrent severe honeybee anaphylaxis since he was 23. He had small, subtle, brownish skin lesions on his chest and abdomen, which he and previous physicians had not recognized. The skin lesions were compatible with urticaria pigmentosa, also known as maculopapular cutaneous mastocytosis. His clinical findings and an elevated baseline tryptase level triggered a thorough systemic mastocytosis investigation. The skin and bone marrow were infiltrated by abnormal, spindle-shaped mast cells, and KIT and TET2 mutations were in the patient’s serum. The honeybee anaphylaxis mechanism in this patient was IgE mediated, supported by a positive result of specific IgE to honeybee. The final diagnosis was indolent systemic mastocytosis with IgE-mediated honeybee anaphylaxis. As venom immunotherapy is unavailable in Thailand, we prescribed treatment with a regular, oral, nonsedating H1-antihistamine and an epinephrine self-injector. At the 2-year follow-up, the patient had not progressed to advanced systemic mastocytosis nor experienced any anaphylactic episodes.Conclusion: Urticaria pigmentosa is a small, round, brown, or red maculopapular lesion. In the Asian population with dark brown skin color, physician should be exclusively careful examination, particularly in a hidden area and in anaphylaxis cases. Early recognition of urticaria pigmentosa in the adult patient might reduce the delay in diagnosis of indolent systemic mastocytosis.

Download Full-text

Urticaria Pigmentosa and Systemic Mastocytosis

JAMA ◽

10.1001/jama.1965.03090230045010 ◽

1965 ◽

Vol 194 (10) ◽

pp. 1077 ◽

Cited By ~ 18

Author(s):

Richard M. Caplan

Keyword(s):

Systemic Mastocytosis ◽

Urticaria Pigmentosa

Download Full-text

Short- and Long-Term Effectiveness of Oral and Bath PUVA Therapy in Urticaria pigmentosa and Systemic Mastocytosis

Dermatology ◽

10.1159/000245681 ◽

1997 ◽

Vol 195 (1) ◽

pp. 35-39 ◽

Cited By ~ 77

Author(s):

O. Godt ◽

E. Proksch ◽

V. Streit ◽

E. Christophers

Keyword(s):

Systemic Mastocytosis ◽

Urticaria Pigmentosa ◽

Puva Therapy ◽

Short And Long Term

Download Full-text

Evolution of Urticaria Pigmentosa into Indolent Systemic Mastocytosis: Abnormal Immunophenotype of Mast Cells without Evidence of c-kit Mutation ASP-816-VAL

Leukemia & Lymphoma ◽

10.1080/1042819021000037967 ◽

2003 ◽

Vol 44 (2) ◽

pp. 313-319 ◽

Cited By ~ 13

Author(s):

F. Noack ◽

L. Escribano ◽

K. Sotlar ◽

R. Nunez ◽

K. Schuetze ◽

...

Keyword(s):

Mast Cells ◽

Systemic Mastocytosis ◽

Urticaria Pigmentosa ◽

Kit Mutation ◽

Indolent Systemic Mastocytosis

Download Full-text

Indolent Systemic Mastocytosis – a Case Report

Serbian Journal of Dermatology and Venerology ◽

10.1515/sjdv-2017-0014 ◽

2017 ◽

Vol 9 (3) ◽

pp. 129-133 ◽

Cited By ~ 1

Author(s):

Ljuba Vujanović ◽

Marina Jovanović ◽

Zoran Golušin ◽

Olivera Levakov ◽

Aleksandra Petrović ◽

...

Keyword(s):

Bone Marrow ◽

Case Report ◽

Systemic Mastocytosis ◽

Lower Limbs ◽

Urticaria Pigmentosa ◽

Gamma Glutamyl Transferase ◽

Normal Ranges ◽

Patient Reported ◽

Glutamyl Transferase ◽

Indolent Systemic Mastocytosis

Abstract Indolent systemic mastocytosis is a benign form of systemic mastocytosis characterized by an abnormal proliferation of mast cells either in the bone marrow or in numerous tissues. Case Report: A 27-year-old female patient was admitted to our department due to urticaria which started a month ago. Before the skin changes appeared, our patient suffered from a toothache, so she took various painkillers (nimesulide, ibuprofen, acetylsalicylic acid, paracetamol). During skin examination, individual hyperpigmented macules on the trunk and lower limbs were observed as incidental findings. The patient reported having them for the last two years. Darier's sign was positive. Following the examination, she was admitted due to suspected urticaria pigmentosa. Laboratory Findings: erythrocyte sedimentation rate: 9 mm/h; complete blood count, urine, blood glucose, total and direct bilirubin, aspartate aminotransferase, alanine aminotransferase, gamma-glutamyl transferase, urea, creatinine, and uric acid were within normal ranges. Electrolytes: sodium, potassium, chlorine clearance, total calcium and calcium ionized, osteocalcin, and crosslaps were within normal ranges as well. Fibrinogen: 5.57 g/l; 5-Hydroxyindoleacetic acid: 49.8 umol/dU (10.4 - 31.2). Bone densitometry, chest x-ray and upper abdomen ultrasound findings were normal. The suspected clinical diagnosis of urticaria pigmentosa was confirmed by skin biopsy. Histopathological examination of the bone marrow showed moderately increased cellularity (60 - 70%). All three types of blood cells were slightly multiplied. Focal infiltrations were found in the perivascular area, consisting of elongated, oval cells with abundant eosinophilic granular cytoplasm. The nuclei were regular, oval shaped with finely granular chromatin and inconspicuous nucleoli. No nuclear atypia was found. These cells are highly CD117-positive. This finding strongly indicated bone marrow infiltration in systemic mastocytosis. The diagnosis was based on ‘major’ and ‘minor’ diagnostic criteria. The recommended therapy included H1 and H2 antagonists and topical corticosteroids. Conclusion: Regular follow-up was recommended in order to prevent complications and malignant alterations.

Download Full-text

Urticaria pigmentosa in a patient with acquired immunodeficiency syndrome – a case report / Urtikarija pigmentoza kod obolelog od sindroma stečene imunodeficijencije – prikaz slučaja

Serbian Journal of Dermatology and Venerology ◽

10.2478/v10249-011-0043-7 ◽

2011 ◽

Vol 3 (3) ◽

pp. 113-120

Author(s):

Slobodan Stojanović ◽

Snežana Brkić ◽

Marina Jovanović ◽

Nada Vučković

Keyword(s):

Acquired Immunodeficiency Syndrome ◽

World Literature ◽

Systemic Mastocytosis ◽

Urticaria Pigmentosa ◽

Total Serum ◽

Bone Marrow Biopsies ◽

Dermatological Examination ◽

Clinical Center ◽

Acquired Immunodeficiency ◽

Immunodeficiency Syndrome

Abstract The authors present a case of a man with urticaria pigmentosa and acquired immunodeficiency syndrome - AIDS. The patient was diagnosed as HIV (human immunodeficiency virus) - positive in the year 2000, at the Infectious Diseases Clinic, Clinical Center of Vojvodina in Novi Sad. Urticaria pigmentosa was detected (nine years later) during a dermatological examination at the Dermatovenerology Department of the Outpatient Clinic, Clinical Center of Vojvodina. Urticaria pigmentosa is the most common manifestation of cutaneous mastocytosis. The patient was taking long term antiviral therapy for several years. Approximately 2 years after the onset of urticaria pigmentosa, this patient developed septicemia and ascites along with hepatosplenomegaly, liver damage, chronic cholecystitis, leukopenia, thrombocytopenia and relative eosinophilia. The patient had increased total serum IgE levels and tested positive for 5-hydroxyindoleacetic acid in a 24-hour urine test from the very beginning of urticaria pigmnentosa and during the course of his illness. Immunohistochemical results of dermal biopsy of the affected area confirmed the diagnosis of urticaria pigmentosa. Histology findings confirmed presence of typical dermal mast cell infiltrates with distinct oval and spindle granules that were CD117+ and CD1a-. Systemic mastocytosis was excluded by liver and bone marrow biopsies. To our knowledge, we present the third case of associated mastocytosis and acquired immunodeficiency syndrome published in world literature so far, in order to indicate the possible interaction between HIV infection and mast cells.

Download Full-text