X-linked dominant protoporphyria: The first reported Japanese case
Yukiko Ninomiya1, Yasuhito Kokunai1, Hideaki Tanizaki1
1Department of Dermatology, Osaka Medical College, Osaka, Japan.
The Journal of Dermatology
|September 22, 2015
Summary
X-linked dominant protoporphyria (XLDPP) was diagnosed in a Japanese family due to a mutation in the ALAS2 gene. This condition mimics erythropoietic protoporphyria (EPP), highlighting the need for genetic testing.
Area of Science:
- Genetics
- Biochemistry
- Dermatology
Background:
- Erythropoietic protoporphyria (EPP) is a genetic disorder causing photosensitivity.
- EPP is typically associated with mutations in the ferrochelatase-encoding gene (FECH).
Observation:
- A 12-year-old boy presented with photosensitivity and skin lesions, initially suspected as EPP.
- Elevated erythrocyte protoporphyrin (EP) levels were observed in the patient and family members.
- Clinical and initial laboratory findings were consistent with EPP.
Findings:
- Genetic analysis revealed a mutation in the 5-aminolevulinic acid synthase-encoding gene (ALAS2), not FECH.
- This confirmed a diagnosis of X-linked dominant protoporphyria (XLDPP) in the patient, mother, and elder sister.
- This represents the first reported Japanese family with XLDPP.
Implications:
- XLDPP shares clinical and laboratory similarities with EPP, necessitating genetic analysis for accurate diagnosis.
- Identifying XLDPP in Japan expands the known geographical distribution of this rare genetic disorder.
- Understanding the genetic basis of XLDPP is crucial for differential diagnosis and patient management.
Keywords:
5-aminolevulinic acid synthase 2X-linked dominant protoporphyriaerythropoietic protoporphyriaferrochelatasegenetic analysislyonizationMore Related Videos
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