Harlequin Syndrome | Pediatric Case Insights
The post covers Harlequin Ichthyosis also called as Collodion baby or Ichthyosis congenita. Harlequin Ichthyosis or syndrome is a extremely rare Genetic condition with hyperkeratosis. It is a severe form of Icthyosys.
- Defective Gene: ABCA12 gene (ATP-binding cassette transporter A12)
- Chromosomes: 2
- Inheritance Pattern: Autosomal recessive
- Clinical Manifestations:
- Severe skin scaling, often in a diamond-shaped pattern.
- Thickened and fissured skin, resembling armor or a harlequin pattern.
- Ectropion (eyelids turned outwards).
- Aplasia of the ear, nose, and fingers.
- Respiratory distress.
Additional Information:
- Harlequin Ichthyosis is an extremely rare and severe form of ichthyosis.
- Mutations in the ABCA12 gene lead to a deficiency in the transportation of lipids, resulting in abnormal skin development.
- Diagnosis is usually made at birth based on clinical presentation and genetic testing.
- Management involves intensive neonatal care, including the use of emollients and medical support for respiratory complications.
Due to its severity, Harlequin Ichthyosis requires specialized medical attention, and management is primarily supportive.
The power point below covers following topic related to Harlequin icthyosis
- Definition
- Genetics
- Clinical features
- Pathogenesis
- Treatment
- Complications
- Prognosis
- Prenatal Diagnosis (Prenatal counselling is an important station in OSCE exam)
Author
Dr Shantanu Goswami | DNB Pediatrics
Shantanu has completed pediatric residency from J.L.N.H & R. C. Bhilai steel plant hospital.
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