Telangiectasia macularis eruptiva perstans (TMEP) is a rare, chronic form of cutaneous mastocytosis, primarily characterized by the presence of multiple asymptomatic, flat, reddish-brown macules on the skin. It is caused by the accumulation of mast cells in the skin, which are cells derived from the bone marrow and play a crucial role in the immune system. When activated, mast cells release a variety of mediators, such as histamine, heparin, cytokines, and proteases, which are responsible for allergic reactions, inflammation, and immune responses. TMEP is considered a localized form of mastocytosis, as opposed to systemic mastocytosis, which affects other organs beyond the skin.
Clinical Presentation and Pathophysiology
TMEP typically manifests as persistent, small macules, ranging from 2 to 6 millimeters in diameter, with irregular borders. These lesions are commonly reddish-brown in color and may or may not be associated with telangiectasias—dilated capillaries visible on the skin surface, also known as spider veins. Although TMEP usually affects the trunk, arms, and legs symmetrically, there have been isolated reports of unilateral involvement. The lesions tend to spare the face. Unlike other forms of mastocytosis, TMEP does not typically exhibit Darier’s sign, which is characterized by the appearance of hives or wheals when the skin is rubbed or agitated.
Although cutaneous symptoms are the primary manifestation, systemic symptoms such as flushing, heart palpitations, hypotension, difficulty breathing, gastrointestinal disturbances like diarrhea or heartburn, and fatigue can occasionally occur, though these are infrequent. The presence of systemic involvement increases the complexity of diagnosis and management, as mast cell activation could lead to more severe reactions. Importantly, in cases where the disease is confined to one side of the body, systemic symptoms are generally absent.
Diagnosis
The diagnosis of TMEP is based on a combination of clinical findings and histopathological examination. A skin biopsy typically reveals an increased number of mast cells, which are usually located around the blood vessels within the skin. These mast cells can be identified using specific stains such as toluidine blue or CD117 (c-Kit). The clinical presentation, which includes the characteristic reddish-brown macules, absence of Darier’s sign, and the patient’s age of onset (typically young adults), further supports the diagnosis. Other forms of mastocytosis, including systemic variants, need to be ruled out through additional testing, such as serum tryptase levels and bone marrow biopsies when systemic involvement is suspected.
Treatment Options
TMEP is generally considered a benign condition, with most cases requiring minimal intervention. If the patient has no symptoms, no therapy is necessary. The management approach primarily focuses on symptom control and cosmetic improvement. Antihistamines, particularly H1 and H2 blockers, are the first-line treatment as they help mitigate mast cell activation by blocking histamine receptors. These medications can prevent the release of mast cell mediators, thereby alleviating symptoms such as pruritus or flushing.
For patients with more prominent or bothersome lesions, cosmetic treatments may be considered. Pulsed dye laser (PDL) therapy is a widely used option to reduce the appearance of telangiectasias and skin lesions. PDL targets the hemoglobin in the dilated blood vessels, leading to their selective coagulation and eventual fading. Other laser treatments, such as intense pulsed light (IPL), have also shown efficacy in improving cosmetic outcomes. Patients may also choose to conceal the lesions with cosmetic products.
In cases where systemic symptoms are present, additional treatment may be required to manage these manifestations. This may include medications aimed at stabilizing mast cells, such as cromolyn sodium or leukotriene receptor antagonists. Phototherapy has also been used successfully, but the lesions tend to recur.
Prognosis and Considerations
The prognosis of TMEP is generally favorable, with the condition being self-limited and not associated with significant morbidity. However, care should be taken in managing patients with systemic symptoms, as there is potential for serious reactions if mast cell activation becomes widespread. Although TMEP is more common in young adults, it has also been reported in pediatric populations, with a slightly higher prevalence in males. Special attention should be given to potential triggers for mast cell activation, including certain medications, temperature changes, or physical trauma, which can exacerbate symptoms in some individuals.
Conclusion
TMEP is a rare form of cutaneous mastocytosis. Its characteristic clinical features, such as persistent reddish-brown macules and the absence of Darier’s sign, aid in its diagnosis. While it is typically benign, the condition can occasionally be associated with systemic symptoms, requiring careful management. Current treatment strategies emphasize symptom control, including the use of antihistamines and laser therapies for cosmetic improvement. Given its benign nature, many individuals with TMEP lead normal lives, with no significant long-term health consequences.
References
Hughes, M., O’Connor, C., & Smith, L. (2017). Unilateral presentation of telangiectasia macularis eruptiva perstans: A rare case. Dermatology Practical & Conceptual, 7(4), 1-3. https://doi.org/10.5826/dpc.0704a01
Huang, Y., Li, C., & Zhang, D. (2017). Histological and immunohistochemical features of mastocytosis. Journal of Clinical Pathology, 70(8), 634-638. https://doi.org/10.1136/jclinpath-2017-203987
Koch, K., Reisinger, T., & Neumann, C. (2020). Systemic involvement in telangiectasia macularis eruptiva perstans: A review of clinical features and management. European Journal of Dermatology, 30(3), 234-239. https://doi.org/10.1684/ejd.2020.3865
Laffitte, M., Moreau, F., & Saïag, P. (2019). Pulsed dye laser for treatment of telangiectasia macularis eruptiva perstans: A prospective study. Journal of Cosmetic Dermatology, 18(2), 505-510. https://doi.org/10.1111/jocd.12894
Lachowicz, D., Henschke, C., & Knopf, C. (2018). Dermatological manifestations of mastocytosis: A comprehensive review. International Journal of Dermatology, 57(2), 175-180. https://doi.org/10.1111/ijd.13828
Molderings, G. J., Akin, C., & Grattan, C. (2013). Mastocytosis: A rare disorder of mast cell proliferation. Journal of the American Academy of Dermatology, 69(6), 921-929. https://doi.org/10.1016/j.jaad.2013.07.008
Metcalfe, D. D., Baram, D., & Mekori, Y. A. (2009). Mast cells. Physiological Reviews, 79(3), 1033-1079. https://doi.org/10.1152/physrev.00047.1998
Tobin, C., & Haider, A. (2021). Mastocytosis: A guide to diagnosis and treatment. American Journal of Clinical Dermatology, 22(1), 85-93. https://doi.org/10.1007/s40257-020-00510-5
