Idiopathic eruptive macular pigmentation in a child with citrin deficiency

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• 作者：Chu-Li Fu ; Yun-Feng Hu and Yuan-Zong Song
• 刊名：Pediatrics International
• 出版年：2016
• 出版时间：September 2016
• 年：2016
• 卷：58
• 期：9
• 页码：902-905
• 全文大小：508K
• ISSN：1442-200X

文摘

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.