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Related Experiment Video

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Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from Sézary Syndrome Patients for Transcriptomic Profiling

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Diffuse cutaneous mastocytosis with generalized bullae.

Eui Hyung Lee¹, Mi Ri Kim, Tae Won Kang

¹Department of Dermatology and the Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, Korea.

Annals of Dermatology

|June 16, 2010

Summary

This summary is machine-generated.

This study details a rare case of diffuse cutaneous mastocytosis in an infant, presenting with widespread skin blisters. Early diagnosis is crucial due to potential severe systemic involvement and lethal outcomes.

Keywords:

Diffuse cutaneous mastocytosis Generalized bullae

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Area of Science:

Pediatric Dermatology
Hematology
Pathology

Background:

Cutaneous mastocytosis encompasses a spectrum of disorders characterized by mast cell accumulation in the skin.
Diffuse cutaneous mastocytosis is a rare variant, often associated with significant morbidity and mortality.
Generalized bullae in infants can indicate severe forms of cutaneous mastocytosis requiring prompt evaluation.

Observation:

A 9-month-old female infant presented with extensive tense bullae and erosions across her entire body.
Histopathology confirmed sub-epidermal bullae with a dense dermal infiltrate.
Stains identified the infiltrate as a collection of mast cells; direct immunofluorescence was negative.

Findings:

The infant was diagnosed with diffuse cutaneous mastocytosis with generalized bullae.
This presentation suggests a higher likelihood of severe systemic disease compared to other mastocytosis types.
This is the first reported case in the Korean literature.

Implications:

Highlights the importance of recognizing generalized bullae as a potential sign of severe mastocytosis in infants.
Emphasizes the need for vigilant monitoring for systemic complications in affected infants.
Contributes to the understanding of rare dermatological conditions in pediatric populations.