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Kindler syndrome: a rare case report from Syria.
Souma Edrees1, Natalie Jarkas1, Munawar Hraib2
1Departments of Dermatology.
Annals of Medicine and Surgery (2012)
|May 25, 2023
Summary
Kindler syndrome, a rare inherited disorder, can present uniquely. This case highlights unusual lanugo hair and severe urinary issues in a child, expanding the known clinical spectrum of this blistering skin disease.
Area of Science:
- Genetics and rare diseases
- Dermatology
- Pediatrics
Background:
- Kindler syndrome is a rare autosomal recessive inherited disorder.
- It is characterized by skin blistering, atrophy, photosensitivity, and mucosal findings.
- Previous literature has not documented lanugo hair as a presenting feature.
Purpose of the Study:
- To report a unique case presentation of Kindler syndrome.
- To describe a 13-year-old child with diffuse lanugo hair and urinary complications.
- To emphasize the importance of clinical diagnostic criteria when genetic testing is unavailable.
Main Methods:
- Case report of a 13-year-old Syrian child.
- Clinical examination focusing on skin and mucosal findings.
- Review of medical literature for similar presentations.
Main Results:
- The patient presented with diffuse fine facial hair (lanugo hair), a previously unreported feature.
- The child also experienced severe urinary complications.
- Standard Kindler syndrome features like blistering and atrophy were noted.
Conclusions:
- This case expands the phenotypic spectrum of Kindler syndrome.
- Early recognition of unusual symptoms like lanugo hair is crucial for diagnosis.
- Clinical criteria remain valuable for diagnosing Kindler syndrome in resource-limited settings.
