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Case Note

Case Note: Papules and Plaques on the Trunk, Extremities, and Face of an Infant

History

A 10-month-old boy with no significant past medical history presents for management of papules and plaques on the trunk, extremities, and face.

Initial evaluation

  • Healthy-appearing young male
  • Review of systems is noncontributory and notably negative for signs of fatigue, diarrhea, nausea, or vomiting
  • Social history is unremarkable
  • Presents for evaluation of multiple, widespread papules and plaques
    • First noted about 4-5 months ago
    • Lesions have a red-to-brown coloration and are present largely on the trunk and extremities, with some lesions present on the face
      • The palms and soles are spared
    • Lesions do not appear uncomfortable
    • When vigorously rubbed, one lesion appeared to swell up and resemble a wheal
    • The patient's mother tried over-the-counter topical corticosteroids, which provided no relief
  • No other skin lesions
  • There is no lymphadenopathy or hepatosplenomegaly on exam
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Enter your diagnosis

Diagnosis

  • A diagnosis of urticaria pigmentosa is rendered

Initial Treatment

  • It is advised to avoiding excess rubbing, friction, or pressure, along with avoidance of extreme temperatures, particularly extreme heat
  • Non-sedating H1 antihistamine trial initiated
  • Patient's mother is counseled about signs and symptoms of systemic mastocytosis, including findings of vomiting, diarrhea, dyspnea, fatigue, or signs of systemic anaphylaxis
  • Patient's mother is also counseled about mast cell degranulators and the need to inform physicians and particularly anesthestiologists/surgeons about the diagnosis prior to new prescriptions, particularly if general anesthesia is required
  • Complete blood count is sent and normal, and serum tryptase is not elevated
  • A confirmatory skin biopsy is offered but the mother declines

Follow-up evaluation strategy

6-month follow-up evaluation for re-check (with follow ups every 6-12 months thereafter):

  • The family notes the lesions seem less noticeable and seem to cause fewer symptoms with the avoidance measures
  • The lesions seem to be slowly fading on their own
  • As the child reaches adolescence, the lesions seem to be self-resolving
     

Further recommendations:

  • Topical steroids, particularly potent topical steroids under occlusion, may help individual lesions fade and resolve faster
  • Combination H1 and H2 antihistamine blockade can be helpful for more severe cases with extensive pruritus or cutaneous whealing (ranitidine or famotidine)
     

Subsequent treatment steps:

  • Oral cromolyn sodium can aid in controlling some of the gastrointestinal (GI) symptoms of mast cell disease
  • Oral psoralen and UVA (PUVA) therapy can be effective in cases of widespread cutaneous mastocytosis
  • Many case of childhood urticaria pigmentosa will self-resolve and fade away by puberty, and aggressive systemic therapy including cytoreductive therapy/chemotherapy is often unnecessary

General discussion

Mastocytosis includes a wide variety of cutaneous diseases with variable systemic involvement; this case focused specifically on urticaria pigmentosa. Urticaria pigmentosa is most common in childhood, and less likely to have systemic involvement than adult forms of mastocytosis. Most patients develop mastocytosis in childhood, before the age of 2, with 60-80% of patients having lesions during the first year of life; lesions can even be present at birth. Urticaria pigmentosa is the most common form of cutaneous mastocytosis and represents up to 70-90% of cases. Mastocytosis occurs in patients of all ethnic backgrounds and in both men and women. Most cases are sporadic, but there are rare cohorts of familial cases, including disease reported in monozygotic twins. Cases of adult mastocytosis have been identified with alterations in the KIT tyrosine kinase (CD117), particularly point mutations in codon 816 of the c-kit proto-oncogene. This leads to activated KIT, and increased mast cell development. This genetic mutation is less common in children with mastocytosis.
 

The skin findings of childhood mastocytosis often include isolated tan or brown plaques or nodules (isolated mastocytomas) or variable numbers of brown macules, papules, and small plaques or dermal-based nodules (urticaria pigmentosa). The lesions often develop on the trunk and/or extremities; the face, palms, and soles are generally spared. Adult mastocytosis generally presents with small subcentimeter reddish-brown macules or flat-papules, generally on the trunk and extremities. Telangiectasia macularis eruptiva perstans (TMEP) is a less common presentation, where patients have fainter, lighter, more subtle macules and small papules, with intermixed with more prominent telangiectasias. While most forms of cutaneous mastocytosis will appear hyperpigmented or brown at times, TMEP is generally flesh colored and indistinct, with a very subtle clinical appearance. Adults may rarely develop diffuse cutaneous mastocytosis.
 

Mast cells in the skin represent a large concentration of inflammatory mediators, as mast cells often contain granules of histamine. Stroking or rubbing a lesion of cutaneous mastocytosis can elaborate these signaling molecules, and often results in a localized wheal response, where the lesion will form a hive; this is called 'Darier's sign'. Darier's sign can be seen in isolated mastocytomas, childhood urticarial pigmentosa, and diffuse cutaneous mastocytosis; lesions of TMEP often harbor smaller collections of mast cells and are less apt to urticate when stroked.
 

In urticaria pigmentosa, systemic involvement is rare. Most childhood cases will experience a limited course and spontaneous resolution by adolescence. A subset of children whose disease persists may behave more like adult cases of cutaneous mastocytosis, and may warrant c-kit testing or other workup. Adults with cutaneous mastocytosis are at risk for variable amounts of bone marrow involvement. Patients may have hepatic or splenic involvement with mast cell infiltration, and lymph node enlargement may occur. Adults also may develop skeletal lesions due to mastocytosis with opacities or lucencies seen on radiographic imaging; patients may also develop osteosclerosis or osteoporosis. Due to the mast cell burden, patients may occasionally develop GI symptoms, including pain, diarrhea, nausea, or vomiting. Patients with mastocytosis should have a thorough physical examination, serum tryptase, blood count with differential, and often a skin biopsy. Patients with an abnormal tryptase level, abnormal blood count, or systemic symptoms warrant further evaluation.
 

Treatment of mastocytosis is predominantly symptomatic. Indolent cases or cases with isolated, asymptomatic lesions often do not require therapy. As lesions may urticate in response to physical stimulus, patients should be advised to avoid heat and friction to lesions. Patients with mastocytomas, particularly those with high numbers of lesions and disease burden, should avoid mast cell degranulating agents. This list includes alcohol, anticholinergic agents, non-steroidal anti-inflammatory drugs (NSAIDs), aspirin, narcotics, and polymyxin B. Anesthetic agents may trigger anaphylactoid reactions in patients with mastocytosis, and if patients require surgery or general anesthesia, the surgical team and anesthesiologist should be aware of the diagnosis and consulted regarding the safest systemic agents. Histamine receptor antagonists (H1 or H2 blockers, alone or in combination) may help alleviate some of the symptoms of mastocytosis. Cromolyn sodium has been used for GI symptomatic control. Patients with extensive skin disease have been treated with light therapy, including PUVA therapy; patients may degranulate during the initiation of such treatment and should be counseled and monitored closely, particularly in cases of high disease burden. Potent topical steroids may eliminate local symptoms and can in some cases resolve the cutaneous lesion entirely. Intralesional steroids may also help with isolated or limited cutaneous mastocytomas. Patients with systemic disease may be at risk for large degranulation episodes and can experience anaphylactoid reactions and life-threatening hypotension; patients at risk for this should carry an epinephrine autoinjector at all times. In extensive or refractory cases, patients have been treated with interferon, chemotherapy, and imatinib (which can help a specific subset of patients who lack the more common c-kit D816V mutation).

Further reading

Bains SN, Hsieh FH. Current approaches to the diagnosis and treatment of systemic mastocytosis. Ann Allergy Asthma Immunol 2010;104:1-10.

Caplan RM. The natural course of urticarial pigmentosa. Analysis and follow-up of 112 cases. Arch Dermatol 1963;87:146-57.

Castells M, Metcalfe DD, Escribano L. Guidelines for the diagnosis and treatment of cutaneous mastocytosis in children. Am J Clin Dermatol 2011;12:259-70.

Fett NM, Teng J, Longley BJ. Familial urticarial pigmentosa: report of a family and review of the role of KIT mutations. Am J Dermatopathol 2013;35:113-6.

Frieri M, Quershi M. Pediatric mastocytosis: a review of the literature. Pediatr Allergy Immunol Pulmonol 2013;26:175-80.

Worobec AS. Treatment of systemic mast cell disorders. Hematol Oncol Clin North Am 2000;14:659-87.

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