title: Idiopathic eruptive macular pigmentation in a child with citrin deficiency.
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.
authors.affiliation: Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou, China.
authors.forename: Chu-Li
authors.initials: CL
authors.lastname: Fu
authors.affiliation: Department of Dermatology, First Affiliated Hospital, Jinan University, Guangzhou, China.
authors.forename: Yun-Feng
authors.initials: YF
authors.lastname: Hu
authors.affiliation: Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou, China. songyuanzong@vip.tom.com.
authors.forename: Yuan-Zong
authors.initials: YZ
authors.lastname: Song
mesh_terms: D002135:Calcium-Binding Proteins / Q000097:blood / Q000172:deficiency*; D002675:Child, Preschool; D020159:Citrullinemia / Q000097:blood / Q000150:complications*; D003937:Diagnosis, Differential; D005148:Facial Dermatoses / Q000097:blood / Q000175:diagnosis* / Q000209:etiology; D005260:Female; D006801:Humans; D017495:Hyperpigmentation / Q000097:blood / Q000175:diagnosis* / Q000209:etiology; D027361:Organic Anion Transporters / Q000097:blood / Q000172:deficiency*; D012075:Remission, Spontaneous
chemical_list: D002135:Calcium-Binding Proteins; D027361:Organic Anion Transporters; C008822:citrin
keywords: SLC25A13; citrin deficiency; idiopathic eruptive macular pigmentation