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Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
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Do you know this syndrome?
Isabella Brasil Succi1, Fernando Colonna Rosman, Elisa Fontenelle de Oliveira
1Hospital Municipal Jesus (HMJ), Rio de Janeiro, Brazil. ibsucci@unisys.com.br
Anais Brasileiros De Dermatologia
|July 9, 2011
Summary
Bloch-Sulzberger syndrome, also known as incontinentia pigmenti, is a rare genetic skin disorder primarily affecting females. This condition presents with distinct skin lesion phases and can involve other systemic abnormalities.
Area of Science:
- Dermatology
- Genetics
- Pediatrics
Background:
- Bloch-Sulzberger syndrome (incontinentia pigmenti) is a rare genodermatosis.
- This condition predominantly affects females due to its typically lethal impact on male fetuses.
Observation:
- The syndrome is primarily characterized by specific skin lesions.
- Additional abnormalities can manifest in dental, ophthalmological, and neurological systems.
Findings:
- Skin lesions progress through four distinct phases: vesicular, verrucous, hyperpigmented, and atrophic/hypopigmented.
- The sequence of these phases is irregular, with common overlapping of stages.
Implications:
- Understanding the phased progression aids in diagnosis and management of Bloch-Sulzberger syndrome.
- Early identification of associated systemic abnormalities is crucial for comprehensive patient care.
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