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Dermatology
Mastocytosis
Built from Dermatology, 5th Edition
What’s inside
10 sections · 83 slides
Overview
- What this chapter covers
- 50-70%
- Clinical presentations of childhood and adult-onset mastocytosis
History and Epidemiology
From the first case report to who develops mastocytosis today
- What is mastocytosis
- A short history
- Who gets mastocytosis, and when
- Family patterns
Pathogenesis
Mast cell biology and the KIT gene changes that drive disease
- How a mast cell matures
- KIT and its trigger, stem cell factor
- KIT mutations drive mastocytosis
- The same mutation, very different results
- From mutation to symptoms
Cutaneous Mastocytosis in Children
Mastocytomas, maculopapular disease, and diffuse skin involvement
- Symptoms from mast cell chemicals
- Mast cell mediators and associated symptoms of mastocytosis
- Three childhood skin patterns
- Mastocytomas
- Mastocytomas in young children
- Mastocytoma with blistering and erosion
- Mastocytomas in infants
- Bullae in a mastocytoma
- Multiple-lesion (maculopapular) disease in children
- Maculopapular cutaneous mastocytosis in children
- Maculopapular cutaneous mastocytosis in children
- Diffuse cutaneous mastocytosis
- Diffuse cutaneous mastocytosis and blistering in infants
- Diffuse cutaneous mastocytosis
- Diffuse cutaneous mastocytosis with vesicles and erosions
- Blistering in young children
Cutaneous Mastocytosis in Adults
Urticaria pigmentosa, TMEP, and the Darier sign
- Adult skin disease: "urticaria pigmentosa"
- Adult maculopapular mastocytosis ("urticaria pigmentosa")
- Adult maculopapular mastocytosis ("urticaria pigmentosa")
- Adult maculopapular mastocytosis with a normal serum tryptase level
- Less common adult patterns
- Telangiectasia macularis eruptiva perstans (TMEP)
- Telangiectasia macularis eruptiva perstans
- The Darier sign
- Darier sign in mastocytosis
- Childhood-onset versus adult-onset disease
Systemic Manifestations
How mastocytosis can affect bone, marrow, spleen, gut, liver, and brain
- Bone involvement
- How mast cells affect bone
- Bone marrow, spleen, and lymph nodes
- Gut, liver, and brain effects
Classification of Mastocytosis
The WHO scheme, systemic mastocytosis subtypes, and evaluating a new patient
- The WHO classification, at a glance
- The WHO classification system
- WHO 2016 classification of mastocytosis
- Diagnosing systemic mastocytosis
- WHO criteria for the diagnosis of systemic mastocytosis (SM) and related B &C findings
- WHO criteria for the diagnosis of systemic mastocytosis (SM) and related B &C findings (continued)
- WHO criteria for the diagnosis of systemic mastocytosis (SM) and related B &C findings (continued)
- Indolent systemic mastocytosis (ISM)
- Smoldering SM and SM with a blood neoplasm
- Aggressive SM and mast cell leukemia
- Survival of patients with systemic mastocytosis
- Extra gene mutations affect outlook
- Evaluating a child with skin lesions
- Evaluation of a patient with cutaneous lesions of mastocytosis
- Evaluating an adult with skin lesions
Pathology and Laboratory Findings
Skin biopsy findings, special stains, and blood tests like tryptase
- What a skin biopsy shows
- Special stains to detect dermal mast cells
- How dense are the mast cells
- Blood and urine tests (indirect evidence)
Differential Diagnosis
Conditions that can look like mastocytosis at different ages
- Mimics in children
- Mimics in adults, and mast cell activation syndrome
Treatment
Trigger avoidance, symptom control, and drugs that target KIT
- Avoiding triggers
- Therapeutic ladder for mastocytosis
- Therapeutic ladder for mastocytosis (continued)
- Therapeutic ladder for mastocytosis (continued)
- Antihistamines: first-line symptom control
- Cromolyn, phototherapy, and corticosteroids
- Emergency treatment and omalizumab
- Tyrosine kinase inhibitors for advanced disease
- Other advanced therapies
- Key take-home points
- References
- References (continued)
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- References (continued)
- References (continued)
- Dermatology, 5th Edition (2-Volume Set)