Urticaria pigmentosa and systemic mastocytosis
Key Clinical Message Additional investigations for systemic involvement should be initiated once the diagnosis of cutaneous mastocytosis has been established in an adult patient. A serum tryptase can serve as a screening test for systemic mastocytosis, and persistent elevations should prompt further...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2023-12-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.8302 |
| _version_ | 1797372034619015168 |
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| author | Jonathan Keow Benjamin Chin‐Yee Cyrus C. Hsia Kara Robertson |
| author_facet | Jonathan Keow Benjamin Chin‐Yee Cyrus C. Hsia Kara Robertson |
| author_sort | Jonathan Keow |
| collection | DOAJ |
| description | Key Clinical Message Additional investigations for systemic involvement should be initiated once the diagnosis of cutaneous mastocytosis has been established in an adult patient. A serum tryptase can serve as a screening test for systemic mastocytosis, and persistent elevations should prompt further investigations, such as bone marrow studies. Abstract Urticaria pigmentosa (UP) is the most common form of cutaneous mastocytosis, presenting as a wide variety of macroscopic appearances. Cutaneous mastocytosis in pediatric patients usually does not present with systemic involvement, but more than half of adult patients with cutaneous mastocytosis demonstrate systemic involvement. Currently, there is no guidance surrounding systemic testing in patients with UP. A 50‐year‐old Caucasian male was referred to the Clinical Immunology and Allergy clinic with a history of a rash. He initially presented to hospital 12 years prior with group A beta hemolytic streptococcus bacteremia treated with multiple different antibiotics. One week following discharge, he developed erythematous brown spots on his right leg which were flat, non‐pruritic, and not painful. The rash later expanded to his trunk and extremities. A skin biopsy performed 2 years prior to referral to our clinic demonstrated urticaria pigmentosa. The CD117 immunohistochemical stain showed increased perivascular and interstitial mast cells in the superficial dermis. Darier's sign was negative on physical examination, and venom testing was also negative. Although he had no symptoms of systemic involvement, his serum tryptase was elevated at 47.6 ng/mL in the context of normal kidney and liver function. A skeletal survey was normal, and an abdominal ultrasound ruled out splenomegaly. Bone marrow biopsy demonstrated a mild increase in paratrabecular and perivascular atypical mast cells, in keeping with systemic mastocytosis. Adult patients with cutaneous mastocytosis have a high likelihood of having an underlying systemic mast cell disorder. Therefore, any patient presenting with characteristic skin findings should be investigated as having a cutaneous manifestation of systemic mastocytosis. This case demonstrates the utility of serum tryptase and its role in triggering additional investigations and guiding appropriate therapy. |
| first_indexed | 2024-03-08T18:30:38Z |
| format | Article |
| id | doaj.art-4ea7bf1e08ef44cf9b122ab03513e267 |
| institution | Directory Open Access Journal |
| issn | 2050-0904 |
| language | English |
| last_indexed | 2024-03-08T18:30:38Z |
| publishDate | 2023-12-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj.art-4ea7bf1e08ef44cf9b122ab03513e2672023-12-30T04:35:09ZengWileyClinical Case Reports2050-09042023-12-011112n/an/a10.1002/ccr3.8302Urticaria pigmentosa and systemic mastocytosisJonathan Keow0Benjamin Chin‐Yee1Cyrus C. Hsia2Kara Robertson3DynaLIFE Medical Labs Edmonton Alberta CanadaDivision of Hematology, Department of Medicine University of Western Ontario London Ontario CanadaDivision of Hematology, Department of Medicine University of Western Ontario London Ontario CanadaDivision of Clinical Immunology and Allergy, Department of Medicine University of Western Ontario London Ontario CanadaKey Clinical Message Additional investigations for systemic involvement should be initiated once the diagnosis of cutaneous mastocytosis has been established in an adult patient. A serum tryptase can serve as a screening test for systemic mastocytosis, and persistent elevations should prompt further investigations, such as bone marrow studies. Abstract Urticaria pigmentosa (UP) is the most common form of cutaneous mastocytosis, presenting as a wide variety of macroscopic appearances. Cutaneous mastocytosis in pediatric patients usually does not present with systemic involvement, but more than half of adult patients with cutaneous mastocytosis demonstrate systemic involvement. Currently, there is no guidance surrounding systemic testing in patients with UP. A 50‐year‐old Caucasian male was referred to the Clinical Immunology and Allergy clinic with a history of a rash. He initially presented to hospital 12 years prior with group A beta hemolytic streptococcus bacteremia treated with multiple different antibiotics. One week following discharge, he developed erythematous brown spots on his right leg which were flat, non‐pruritic, and not painful. The rash later expanded to his trunk and extremities. A skin biopsy performed 2 years prior to referral to our clinic demonstrated urticaria pigmentosa. The CD117 immunohistochemical stain showed increased perivascular and interstitial mast cells in the superficial dermis. Darier's sign was negative on physical examination, and venom testing was also negative. Although he had no symptoms of systemic involvement, his serum tryptase was elevated at 47.6 ng/mL in the context of normal kidney and liver function. A skeletal survey was normal, and an abdominal ultrasound ruled out splenomegaly. Bone marrow biopsy demonstrated a mild increase in paratrabecular and perivascular atypical mast cells, in keeping with systemic mastocytosis. Adult patients with cutaneous mastocytosis have a high likelihood of having an underlying systemic mast cell disorder. Therefore, any patient presenting with characteristic skin findings should be investigated as having a cutaneous manifestation of systemic mastocytosis. This case demonstrates the utility of serum tryptase and its role in triggering additional investigations and guiding appropriate therapy.https://doi.org/10.1002/ccr3.8302cutaneous mastocytosissystemic mastocytosisurticaria pigmentosa |
| spellingShingle | Jonathan Keow Benjamin Chin‐Yee Cyrus C. Hsia Kara Robertson Urticaria pigmentosa and systemic mastocytosis Clinical Case Reports cutaneous mastocytosis systemic mastocytosis urticaria pigmentosa |
| title | Urticaria pigmentosa and systemic mastocytosis |
| title_full | Urticaria pigmentosa and systemic mastocytosis |
| title_fullStr | Urticaria pigmentosa and systemic mastocytosis |
| title_full_unstemmed | Urticaria pigmentosa and systemic mastocytosis |
| title_short | Urticaria pigmentosa and systemic mastocytosis |
| title_sort | urticaria pigmentosa and systemic mastocytosis |
| topic | cutaneous mastocytosis systemic mastocytosis urticaria pigmentosa |
| url | https://doi.org/10.1002/ccr3.8302 |
| work_keys_str_mv | AT jonathankeow urticariapigmentosaandsystemicmastocytosis AT benjaminchinyee urticariapigmentosaandsystemicmastocytosis AT cyruschsia urticariapigmentosaandsystemicmastocytosis AT kararobertson urticariapigmentosaandsystemicmastocytosis |