1. Case Report: Cutaneous Mastocytosis in Infant
Authors (Dr P Chinnaiyan; Dr V Sethi MD; Dr J Nirgiotis MD; Dr J Hurly MD )
Department of Pediatrics, TTUHSC, Amarillo
Introduction
Discussion
Definitive diagnosis of cutaneous mastocytosis by biopsy.
Four types- 1. solitary Mastocytoma, 2.Urticaria pigmentosa-3.Diffuse cutaneous type 4.Telangiectasia macularis eruptiva pertans
Urticaria pigmentosa is the most common type .
Lesions start in first few months to 2 years in infantile form.
Systemic signs of histamine release including flushing.
Systemic involvement is suspected when lesions continue to develop after 4 years.
Children with stem cell factor gene mutation will progress to adult form.
Systemic mastocytosis occurs in 5-10% of children with this gene mutation.
Systemic Mastocytosis may or may not be associated with hematologic non-mast cell disorder and is not discussed.
Treatment of mastocytosis is with H1 blockers, H2 blockers, and topical steroids.
Mast cell stabilizers like cromolyn is used fro systemic symptoms
Phototherapy with UVA, UVB or PUVA may be used for diffuse lesions.
Most lesions resolve spontaneously by adulthood
Mastocytosis is a rare clinical disorder characterized by aggregates of mast cells in dermis.
The diagnosis has clinical implications in symptomatic treatment of intense pruritis and avoiding precipitants.
Once the diagnosis is made, it is important to look for associated life threatening complications in some cases.
It has to differentiated from some other similar looking skin manifestations.
Case report
2 years old girl P/C Fever, severe Itching with rash and irritability.
Rash with itching over chest since 3 months old.
Itching severe with febrile illness and hot weather.
No relieving factors.
Itching worse with codeine intake.
Brown speckles like rash over neck, trunk and upper thighs.
No diarrhea, vomiting or abdominal pain
No wheeze, shortness of breath or chronic cough.
No bone pain, recurrent infections or weight loss.
No seizure, developmental delay or clumsiness.
Examination findings:
Normal general and systems examination except for skin findings
Multiple brown maculopapular lesions measuring 0.5x0.5 cm to 1x1 cm over neck, trunk and upper thighs.
Impression : Mastocytosis / Neurofibromatosis type 1
Investigations:
Skull x-ray- normal, no destructive or erosive lesions
CBC- normal with normal cell counts
CMP- normal
Skin and subcutaneous tissue biopsy- Mast cells in papillary dermis with tight cuffing of vascular plexus. Basal layer is hyperpigmented. Mast cells also in interstitium. They have ovoid nuclei with abundant cytoplasm. Cytology confirmed by CD117 and CD68 stains.
Management
Advised to avoid hot weather, Aspirin, Codeine and anticholinergics.
Referred for genetic counselling
Diagnosis , drugs to avoid and support group advised.
Advised symptomatic treatment with antihistamines for exacerbation
Conclusions
Mastocytosis is a cutaneous disorder presenting with pigmented lesions and intense episodic itching exacerbated by fever and some medications.
Establishing the diagnosis helped reassure the family , treat the child’s symptoms and avoid unnecessary investigations. The child’s symptom may be mistaken for fever with irritability.
References
Archives of medical science, 2012 Jul 4;8(3): doi: /aoms
Nelson textbook of pediatrics, 18th edition.
Archives of disease in childhood 2011 Nov;96 Suppl 2:i34-7. doi: /adc
Texas Pediatric Society Electronic Poster Contest