Idiopathic eruptive macular pigmentation in a child with citrin deficiency
Chu-Li Fu1, Yun-Feng Hu2, Yuan-Zong Song3
1Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou, China.
Insights
Idiopathic eruptive macular pigmentation (IEMP) is a rare skin condition. This case study presents the first instance of IEMP in a patient with silent citrin deficiency, highlighting a unique association.
Area of Science:
- Dermatology
- Genetics
- Pediatrics
Background:
- Idiopathic eruptive macular pigmentation (IEMP) is a rare skin condition with unknown causes.
- Citrin deficiency is a genetic disorder affecting metabolism, typically presenting in infancy.
Observation:
- A 5½-year-old girl presented with a 10-month history of brown macules on her neck, trunk, buttocks, and extremities.
- She had a history of citrin deficiency (SLC25A13 genotype c.851_854del4/c.998G > A) which resolved with dietary management.
- Physical examination revealed symmetric, non-scaly brown macules, and histopathology showed epidermal hyperpigmentation and dermal melanophages.
Findings:
- The patient was diagnosed with idiopathic eruptive macular pigmentation (IEMP).
- The skin rashes resolved spontaneously within two years of observation.
- This is the first reported case of IEMP in a patient with silent citrin deficiency.
Implications:
- This case suggests a potential, previously unrecognized association between silent citrin deficiency and IEMP.
- Further research is needed to explore the potential link and underlying mechanisms.
- This finding expands the clinical spectrum of citrin deficiency and IEMP.
Abstract:
Idiopathic eruptive macular pigmentation (IEMP) is a rare dermatological disorder with generally unclear etiology and pathogenesis. A 5½-year-old girl was referred to hospital with a 10 month history of brown skin rashes. In early infancy, citrin deficiency had been diagnosed with the SLC25A13 genotype c.851_854del4/c.998G > A, but all clinical and laboratory abnormalities recovered following the introduction of a lactose-free and medium-chain triglyceride-enriched formula. Physical examination at referral indicated symmetric, multiple and non-scaly brown macules on the neck, trunk, buttocks and proximal parts of the extremities. Histopathology indicated epidermal basal layer hyperpigmentation with an irregular distribution, along with a large number of melanophages in the upper dermis. The diagnosis of IEMP was thus made. Within 2 years of follow up, the rashes disappeared spontaneously and gradually. To our knowledge, this is the first description of IEMP in a patient with silent citrin deficiency.
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