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Familial urticaria pigmentosa
D P Clark1, L Buescher, A Havey
1Department of Medicine, University of Missouri School of Medicine, Columbia 65212.
Archives of Internal Medicine
|August 1, 1990
Summary
This study details a rare inherited skin condition, urticaria pigmentosa, within a large American family across three generations. The family exhibited diverse presentations, including classic lesions and normal skin with mast cell infiltrates.
Area of Science:
- Dermatology
- Genetics
- Pathology
Background:
- Urticaria pigmentosa (UP) is a rare mast cell disorder.
- Familial inheritance of UP is infrequently documented.
- Mast cell diseases can present with diverse clinical manifestations.
Observation:
- A large American kindred spanning three generations presented with urticaria pigmentosa.
- Individual family members displayed varied dermatological phenotypes.
- Phenotypes ranged from classic UP lesions to telangiectasia macularis eruptiva perstans and clinically normal skin with dermal mast cell infiltrates.
Findings:
- This report documents the largest American kindred with familial mast cell disease.
- The study highlights significant phenotypic diversity within a single family affected by urticaria pigmentosa.
- The presence of excess mast cells in dermal infiltrates was confirmed even in individuals with clinically normal skin.
Implications:
- This case series expands the understanding of the genetic and phenotypic variability of mast cell disorders.
- It underscores the importance of considering familial inheritance patterns in diagnosing urticaria pigmentosa.
- Further research into the genetic underpinnings of mast cell disease diversity is warranted.