A Case Study of Cutaneous Mastocytoma in a 9-Month-Old Infant

CASE REPORT A Case Study of Cutaneous Mastocytoma in a 9-Month-Old Infant

Bradley Jellerichs and Mary Elizabeth Kim

ABSTRACT: This is a case study of a 9-month-old infant pre- on immunizations. Physical examination revealed a solitary senting with a blistering lesion on the left foot previously 2cmÂ 1 cm minimally elevated erythematous plaque with misdiagnosed as a benign birthmark. Pathology revealed central shiny skin to the dorsum of the left foot with no active cutaneous mastocytoma, which required no further bulla (Figure 2). No other abnormalities were noted during intervention. a full skin examination. Shave biopsy was performed and Key words: KIT Gene, Mast Cell, Mastocytoma, Mastocytosis sent to a children's hospital for expert consultation.

utaneous mastocytosis (CM) is a rare disease HISTOPATHOLOGIC DIAGNOSIS: MASTOCYTOMA characterized by an overproduction of mast Microscopic Findings cells. Childhood mastocytosis presents before the age of 15 years, but most cases Thesamplewassenttotheregionaltertiarychildren's C – (60% 80%) present during the first year hospital for evaluation by pediatric pathology. Histopa- of life (Heide et al., 2002). The prognosis is good, and thology showed acral skin with elongation of the rete ridges symptoms tend to resolve spontaneously in late adolescence. of the epidermis. Within the superficial and mid-dermis, there was a proliferation of monotonous cells with round CASE PRESENTATION to oval nuclei; mild hyperchromasia; inconspicuous nucle- A 9-month-old female infant presented to the general der- oli; and abundant pale, faintly granular, cytoplasm. In the matology clinic for an evaluation of a skin lesion on the deeper dermis, the cells presented as single cells and thin foot. The mother had noticed the lesion at the age of trabeculae. Mitotic figures were inconspicuous. The cells 3 days. Twice in the intervening months, the lesion had showed strong, diffuse membranous positivity for C-KIT formed a bulla, which then ruptured clear fluid (Figure 1). (CD117) and were negative for S100 and MARTI1. The The lesion did not seem to cause pain or itch. There was lesion extended to the peripheral and deep margins. no history of purulent discharge. The lesion had reportedly OUTCOME been diagnosed as a “birthmark” by the pediatric care provider. No topical or oral medication had been used. After diagnosis was confirmed, no further intervention was The lesion was noted to be growing at the same rate as required. Nursing interventions included counseling and the foot. Patient's medical history, family history, and pre- reassurance. Mother was advised to avoid rubbing the area. natal course were unremarkable. The child was up-to-date Over time, the lesion is likely to flatten, the frequency of blistering episodes will decrease, and the lesion is likely to fully Bradley Jellerichs, MSN, ARNP, DCNP, Clinic Dermatology, Federal regress around the onset of puberty. Way, WA. Mary Elizabeth Kim, BS, Clinic Dermatology, Federal Way, WA. DISCUSSION The authors declare no conflict of interest. Mastocytosis is a group of disorders characterized by ex- Correspondence concerning this article should be addressed to Bradley cessive mast cell accumulation in one or multiple tissues. Jellerichs, MSN, ARNP, DCNP, Clinic Dermatology, 34616 It is subdivided into two forms: CM, which is limited to 11th Place South, Suite 2, Federal Way, WA 98004. E-mail: [email protected] the skin, and systemic mastocytosis, which involves other Copyright © 2020 by the Dermatology Nurses’ Association. organs. The World Health Organization further subdivides DOI: 10.1097/JDN.0000000000000551 CM into four subtypes: urticaria pigmentosa (UP), diffuse

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FIGURE 2. CM, solitary mastocytoma, and telangiectasia macularis Erythematous plaque on the left foot. Photo taken in the clinic. eruptiva perstans (Valent et al., 2001). The symptoms of CM in children include macules, papules, and nodules. Erythema, edema, and bulla forma- tion can occur and are associated with pruritus and dermo- In the described example, it is notable that the patient graphism. These symptoms are because of the presence of had been assigned an incorrect diagnosis. Diagnosis of mast cells and the release of inflammatory mediators (Castells mastocytosis can be challenging because the clinical pre- et al., 2011). The pathogenesis of pediatric CM is not well sentation can be mild and may not come to the attention understood. In most cases, pediatric CM occurs spontane- of parents or clinicians. Biopsies can also be difficult for ously and is not hereditary. Pediatric CM is not known to pediatric patients to tolerate (Castells et al., 2011). show any correlations with other conditions, such as sea- In some cases, treatment may be warranted because of sonal rhinitis, eczema, or asthma. pruritus or unacceptable cosmetic appearance. Oral anti- UP is the most common subtype of CM in children and histamines and topical immunomodulators can be pre- adults. Lesions of UP are characterized by small yellow-tan scribed. Tacrolimus and pimecrolimus may be indicated to reddish-brown macules or slightly raised papules, which and have a side effect profile that is relatively benign may be mistaken for freckles initially. In our patient, who (Sukesh et al., 2013). However, there are limited data on only had one lesion and no apparent systemic symptoms, the use of these medications in infants. the best diagnosis is solitary mastocytoma (which is a dif- The prognosis of CM is good. Ten percent of patients ferent and less common subtype of CM). show complete resolution of symptoms, and 70% of The incidence of pediatric CM is low, affecting around patients show significant improvement in symptoms one in 1,000 children (Heide et al., 2002). Children with by the age of 10 years (Heide et al., 2002). The authors CM are commonly diagnosed before the age of 2 years with hope that publication of this interesting case helps edu- one to three raised lesions on the trunk or extremities. cate dermatology nurses on the proper diagnosis and Males and females are equally affected. treatment of CM. ▪ If a nurse suspects mast cell proliferation, the nurse can attempt to elicit the Darier sign, known to be positive in 95% of cases. Testing for Darier sign requires using a blunt REFERENCES instrument to rub the lesion for 10 seconds. The lesion is Castells, M., Metcalfe, D. D., & Escribano, L. (2011). Diagnosis and treat- then observed for increased swelling or redness for 5 minutes ment of cutaneous mastocytosis in children: Practical recommendations. (Heide et al., 2002). American Journal of Clinical Dermatology, 12(4), 259–270. https://doi. org/10.2165/11588890-000000000-00000 If a pediatric patient is diagnosed with CM, the parent Heide, R., Tank, B., & Oranje, A. P. (2002). Mastocytosis in childhood. Pedi- should be advised to properly care for the lesion if it rup- atric Dermatology, 19(5), 375–381. https://doi.org/10.1046/j.1525-1470. tures. The ruptured lesion should be loosely covered with 2002.00110.x Sukesh, M. S., Dandale, A., Dhurat, R., Sarkate, A., & Ghate, S. (2014). Case a bandage until it completely drains. Once drained, the report: Solitary mastocytoma treated successfully with topical tacrolimus. area should be gently cleaned with soap and water and F1000 Research, 3, 181. https://doi.org/10.12688/f1000research.3253.1 Valent, P.,Horny, H. P., Escribano, L., Longley, B. J., Li, C. Y., Schwartz, L. B., covered with a thin layer of petroleum jelly. The parent should Marone, G., Nuñez, R., Akin, C., Sotlar, K., Sperr, W. R., Wolff, K., monitor for signs of infection or purulent discharge. When the Brunning, R. D., Parwaresch, R. M., Austen, K. F., Lennert, K., Metcalfe, D. D., Vardiman, J. W., & Bennett, J. M. (2001). Diagnostic criteria and infant begins to walk, the parent should monitor for pain, classification of mastocytosis: A consensus proposal. Leukemia Research, which may warrant additional intervention. 25(7), 603–625.

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