Idiopathic eruptive macular pigmentation in a child with citrin deficiency.
Pediatr Int
; 58(9): 902-5, 2016 Sep.
Article
em En
| MEDLINE
| ID: mdl-27389718
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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Base de dados:
MEDLINE
Assunto principal:
Proteínas de Ligação ao Cálcio
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Hiperpigmentação
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Citrulinemia
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Transportadores de Ânions Orgânicos
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Dermatoses Faciais
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article