Cafè-au-lait macules (CALMs) in a 8 month old child - Legiu
Now open: Certificate Course in Management of Covid-19 by Govt. Of Gujarat and PlexusMDKnow more...Now open: Certificate Course in Management of Covid-19 by Govt. Of Gujarat and PlexusMDKnow more...
Background

Cafè-au-lait macules (CALMs) are well-circumscribed, light brown macules that can develop at birth or later in life. They are common findings in Pediatrics, but they can be a sign of many different conditions: they can be isolated or related to a more complex syndrome. In the last case it’s important to look for other signs evocative of a syndrome in the patient or in his family.
We describe a healthy 8-month-old child with multiple cafè-au-lait spots. Her family history was characterized by the presence of CALMs in many members, but other manifestations typical of Neurofibromatosis type 1 (NF 1) were not described. Because of the presence of isolated CALMs in many family members, we hypothesized a Legius syndrome, an autosomal dominant disease characterized by a mild NF 1 phenotype.

Case
A 8-month-old female child was referred to our Dermatologic Unit for suspected Neurofibromatosis type 1 (NF 1), because of the appearance of several café-au-lait macules (CALMs) since first days of life. Her medical history was otherwise unremarkable and growth and development were appropriate for age. At physical exam, we noticed that the child had multiple CALMs, of which 7 were larger than 5 mm. No other clinical feature of NF 1 was found (i.e. Lisch nodules, axillar or inguinal freckles, neurofibromas, gliomas).....

https://ijponline.biomedcentral.com/articles/10.1186/s13052-015-0115-9
Like
Comment
Share