Pregledni rad
https://doi.org/10.26800/LV-146-supl1-34
Neurofibromatosis and when it is not the case
Ivana Martinac Ciglar
Mihael Skerlev
Karmela Husar
Anamaria Balić
Slobodna Murat-Sušić
Sažetak
Neurocutaneous diseases are hereditary disorders of ectoderm development. According to the clinical picture and inheritance, we divide them into 3 major types of disease: neurofibromatosis type I, neurofibromatosis type II and schwannomatosis. We highlight the most common form, neurofibromatosis type I (NF1), with special reference to clinical features on the skin. There is a mutation of the NF1 gene for neurofibromin, and the inheritance is autosomal dominant and sporadic (50%), with variable expressivity. In the clinical picture, as one of the diagnostic criteria, there are café-au-lait macules (CALM), hyperpigmented macules on the skin, which can be present at birth or in the first few months. They grow in size and number up to the age of 10. To establish the diagnosis of NF1, 6 or more macules larger than 5 mm in diameter are required until puberty, and larger than 15 mm in adulthood in addition to other criteria. Up to 15% of the healthy population has 1-3 CALM. In addition to CALM, freckling in the axillary or inguinal region also known as Crowe sign appears by the age of 7 in 90% of affected children. CALM also occurs in other childhood syndromes such as McCune-Albright syndrome, Legius syndrome, Noonan syndrome, tuberous sclerosis, and Fanconi anemia. In the differential diagnosis, melanocytic lesions and melanotic macules such as Becker nevus, congenital nevus, and lentigo should be taken into account. Other clinical manifestations include the appearance of neurofibroma, plexiform neurofibroma, ocular, bone, and neurological changes and an increased frequency of malignant diseases. Patients often also have psychological problems. Up to 97% of patients meet the diagnostic criteria by the age of 8. When we talk about NF1, we are talking about a multisystemic disease whose symptoms can appear throughout life, so it is important to adapt monitoring to the age of the patient with a multidisciplinary approach. CALM can be present in a healthy population, but also in other diseases and syndromes that should be considered, therefore the cooperation of pediatricians and dermatologists from an early age in children with hyperpigmentation is very important.
Ključne riječi
NEUROFIBROMATOSIS TYPE I; CAFÉ-AU-LAIT MACULES; HYPERPIGMENTATION
Hrčak ID:
316047
URI
Datum izdavanja:
11.4.2024.
Posjeta: 73 *