Pediatric Annals

CME 

A 1-Year-Old Boy with Persistent, Generalized Eruption

Adnan Mir, MD, PhD; Sarah L. Chamlin, MD

Abstract

A healthy 1-year-old boy born at full term after an uncomplicated pregnancy presented to the dermatology clinic for a widespread eruption with gradual onset since 3 months of age. He was otherwise well, afebrile, feeding well, and gaining weight appropriately. The child was overall asymptomatic, though some of his lesions occasionally became red and pruritic. His mother noticed that after mild illnesses, he was more prone to these flares. She denied flushing, vomiting, diarrhea, respiratory distress, and irritability. He was meeting all developmental milestones and started walking at 11 months of age. The remainder of his review of systems was unremarkable, and family history was noncontributory.

Physical exam revealed a well-appearing, well-nourished, playful, and interactive toddler. There were innumerable discrete and coalescing pink-brown macules and papules concentrated on the trunk and extending onto the proximal upper and lower extremities bilaterally, as well as the neck and lower face. Stroking the lesions quickly led to development of erythematous edematous wheals. There was no hepatosplenomegaly, and the lymph node exam was unremarkable.

Abstract

A healthy 1-year-old boy born at full term after an uncomplicated pregnancy presented to the dermatology clinic for a widespread eruption with gradual onset since 3 months of age. He was otherwise well, afebrile, feeding well, and gaining weight appropriately. The child was overall asymptomatic, though some of his lesions occasionally became red and pruritic. His mother noticed that after mild illnesses, he was more prone to these flares. She denied flushing, vomiting, diarrhea, respiratory distress, and irritability. He was meeting all developmental milestones and started walking at 11 months of age. The remainder of his review of systems was unremarkable, and family history was noncontributory.

Physical exam revealed a well-appearing, well-nourished, playful, and interactive toddler. There were innumerable discrete and coalescing pink-brown macules and papules concentrated on the trunk and extending onto the proximal upper and lower extremities bilaterally, as well as the neck and lower face. Stroking the lesions quickly led to development of erythematous edematous wheals. There was no hepatosplenomegaly, and the lymph node exam was unremarkable.

A healthy 1-year-old boy born at full term after an uncomplicated pregnancy presented to the dermatology clinic for a widespread eruption with gradual onset since 3 months of age. He was otherwise well, afebrile, feeding well, and gaining weight appropriately. The child was overall asymptomatic, though some of his lesions occasionally became red and pruritic. His mother noticed that after mild illnesses, he was more prone to these flares. She denied flushing, vomiting, diarrhea, respiratory distress, and irritability. He was meeting all developmental milestones and started walking at 11 months of age. The remainder of his review of systems was unremarkable, and family history was noncontributory.

Physical exam revealed a well-appearing, well-nourished, playful, and interactive toddler. There were innumerable discrete and coalescing pink-brown macules and papules concentrated on the trunk and extending onto the proximal upper and lower extremities bilaterally, as well as the neck and lower face. (Figures 1 and 2) Stroking the lesions quickly led to development of erythematous edematous wheals. There was no hepatosplenomegaly, and the lymph node exam was unremarkable.

Tan-pink macules and papules on the trunk, neck, and proximal extremities of a patient with urticaria pigmentosa.Images courtesy of Adnan Mir, MD, PhD.

Figure 1.

Tan-pink macules and papules on the trunk, neck, and proximal extremities of a patient with urticaria pigmentosa.

Images courtesy of Adnan Mir, MD, PhD.

Tan-pink macules and papules on the trunk, neck, and proximal extremities of a patient with urticaria pigmentosa.

Figure 2.

Tan-pink macules and papules on the trunk, neck, and proximal extremities of a patient with urticaria pigmentosa.

Diagnosis:

Urticaria Pigmentosa

Discussion

Pediatric cutaneous mastocytosis is a group of disorders characterized by mast cell hyperplasia in the skin. It includes urticaria pigmentosa (UP, also known as maculopapular cutaneous mastocytosis), mastocytomas, and diffuse cutaneous mastocytosis. Together, these conditions account for as many as one in 500 new pediatric dermatology patients. There does not appear to be a gender or racial predilection, although the majority of reported cases are in white patients.1

Lesions of cutaneous mastocytosis appear before 2 years of age in more than 50% of patients and before 15 years of age in 60%. UP is the most common form of cutaneous mastocytosis in children, accounting for up to 84% of cases, whereas solitary mastocytomas account for about 10%.2–5 Eighty-six percent of cutaneous mastocytosis is caused by activating mutations in the signaling receptor molecule c-KIT. Despite this strong association, the vast majority occur sporadically with few reports of familial inheritance.6

Clinically, UP appears as a variable number of tan-brown to pink-red macules and papules that favor the trunk and proximal extremities, typically sparing the palms, soles, face, and scalp. Mastocytomas appear as larger, tan-orange plaques or nodules that often have a peau d’orange appearance to the overlying skin. In both, Darier’s sign is usually present, characterized by urtication after brisk mechanical irritation (Figure 3). This is thought to be due to the release of histamine, leukotrienes, and prostaglandins by mast cells. Diffuse cutaneous mastocytosis is rare and manifests as thickened, leathery skin that may present with diffuse blistering.

Darier’s sign, urtication, noted after vigorous rubbing of a lesion of mastocytosis.

Figure 3.

Darier’s sign, urtication, noted after vigorous rubbing of a lesion of mastocytosis.

Pediatric cutaneous mastocytosis typically follows a benign clinical course. Mastocytomas or lesions of UP may flare spontaneously, with illnesses, or upon exposure to stimulators of histamine release. Inciting factors include certain foods; physical factors such as heat or cold, trauma, or sun exposure; drugs such as NSAIDS, opiates, iodine-based radiocontrast, sympathomimetics, and several anesthetic agents; or emotional factors such as stress, sleep deprivation, and anxiety.7 Flares usually manifest as lesional erythema, edema, and intense pruritus, or less commonly with flushing. More severe flares in mastocytomas and larger lesions of UP can occur, as well, with blistering or ulceration that most often heals without scarring. The prognosis depends upon the age of onset. Patients affected within the first year of life often improve or resolve spontaneously before puberty.8–11 Systemic involvement is exceedingly rare, in contrast with adult-onset mastocytosis.1,12 Hepatosplenomegaly, lymphadenopathy, and bone involvement have all been described but are usually transient and self-limited.9,13

Diagnosis of cutaneous mastocytosis is usually clinical, based on morphology of lesions and presence of a positive Darier’s sign, which can be elicited by brisk mechanical irritation of a lesion. Biopsy is rarely necessary but is definitive and may be performed in cases where the diagnosis is not certain based on clinical features. A complete review of systems and physical exam should be performed, though routine lab tests are unnecessary. For patients with systemic findings, such as severe flushing, organomegaly, lymphadenopathy, persistent GI complaints, chest pain, hypotension, persistent musculoskeletal pain, or shortness of breath, a serum tryptase level can be checked. Elevated serum tryptase may indicate systemic involvement. A complete blood count and peripheral smear may also be useful in these cases. Further evaluation such as endoscopy, abdominal ultrasound, echocardiography, and bone marrow biopsy should be directed by clinical findings.2

The mainstays of treatment for cutaneous mastocytosis are antihistamines. Long-acting H1-blocking antihistamines such as fexofenadine and cetirizine can be used alone or in combination with shorter-acting agents such as diphenhydramine or hydroxyzine to treat and prevent pruritus and urtication of lesions. Acute flares can be managed with short-acting agents alone. H2-blocking antihistamines such as ranitidine can be added for modest additional benefit in severely affected patients.7,14 Persistently symptomatic mastocytomas or blistered or ulcerated lesions may be treated with high-potency topical glucocorticoids under occlusion. Potential adjunctive therapies include phototherapy and oral cromolyn sodium.7,15,16 Patients who have experienced hypotensive episodes, or those at risk, should be provided with an epinephrine pen.

References

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  12. Brockow K, Akin C, Huber M, Metcalfe DD. Assessment of the extent of cutaneous involvement in children and adults with mastocytosis: relationship to symptomatology, tryptase levels, and bone marrow pathology. J Am Acad Dermatol. 2003;48(4):508–516. doi:10.1067/mjd.2003.98 [CrossRef]
  13. Ben-Amitai D, Metzker A, Cohen HA. Pediatric cutaneous mastocytosis: a review of 180 patients. Isr Med Assoc J. 2005;7(5):320–322.
  14. Worobec AS, Metcalfe DD. Mastocytosis: current treatment concepts. International archives of allergy and immunology. 2002;127(2):153–155. doi:10.1159/000048189 [CrossRef]
  15. Brazzelli V, Grasso V, Manna G, et al. Indolent systemic mastocytosis treated with narrow-band UVB phototherapy: study of five cases. J Eur Acad Dermatol Venereol. 2012;26(4):465–469. doi:10.1111/j.1468-3083.2011.04098.x [CrossRef]
  16. Czarnetzki BM, Rosenbach T, Kolde G, Frosch PJ. Phototherapy of urticaria pigmentosa: clinical response and changes of cutaneous reactivity, histamine and chemotactic leukotrienes. Arch Dermatol Res. 1985;277(2):105–113. doi:10.1007/BF00414106 [CrossRef]
Authors

Adnan Mir, MD, PhD, is a Pediatric Dermatology Fellow, Department of Pediatrics and Division of Dermatology, Northwestern University Feinberg School of Medicine and Ann & Robert H. Lurie Children’s Hospital of Chicago. Sarah L. Chamlin, MD, is Associate Professor of Pediatrics and Dermatology, Ann & Robert H. Lurie Children’s Hospital of Chicago, Northwestern University Feinberg School of Medicine.

Address correspondence to: Adnan Mir, MD, PhD, Department of Pediatrics and Division of Dermatology, Northwestern University Feinberg School of Medicine, Ann & Robert H. Lurie Children’s Hospital of Chicago, 225 East Chicago Avenue, Chicago, IL 60611; email: amir@luriechildrens.org.

Disclosure: The authors have no relevant financial relationships to disclose.

10.3928/00904481-20131223-11

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