Prevalence of Café-au-Lait Spots in children with solid tumors

Abstract

Cafe-au-lait maculae (CALM) are frequently observed in humans, and usually are present as a solitary spot. Multiple CALMs are present in a smaller fraction of the population and are usually associated with other congenital anomalies as part of many syndromes. Most of these syndromes carry an increased risk of cancer development. Previous studies have indicated that minor congenital anomalies may be more prevalent in children with cancer. We investigated the prevalence of CALMs in two samples of Brazilian patients with childhood solid tumors, totaling 307 individuals. Additionally, 176 school children without diagnosis of cancer, or of a cancer predisposing syndrome, were investigated for the presence of CALMs. The prevalence of solitary CALM was similar in both study groups (18% and 19%) and also in the group of children without cancer. Multiple CALMs were more frequently observed in one of the study groups (Z = 2.1). However, when both groups were analyzed together, the significance disappeared (Z = 1.5). The additional morphological abnormalities in children with multiple CALMs were analyzed and compared to the findings observed in the literature. The nosologic entities associated with CALMs are reviewed.

Mutational spectrum by phenotype: panel‐based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café‐au‐lait macules

“…[6][7][8] However, multiple CALMs could also be indicative of other monogenic diseases, such as some RASopathies or other syndromes like PTEN hamartoma tumor or Cowden syndrome, Carney Syndrome or constitutive mismatch repair deficiency (CMMRD). 4, 5,9,10 The RASopathies constitute a clinically defined group of genetic conditions caused by germline mutations in genes that encode for components of the RAS/mitogen-activated protein kinase (MAPK) pathway. In addition to NF1, RASopathies include: Noonan syndrome (NS), NS with multiple lentigines (NSML), Costello syndrome (CS), Legius syndrome (LS), cardio-facio-cutaneous (CFC) syndrome and capillary malformationarteriovenous malformation (CM-AVM).…”

“…The presence of few skin CALMs at an early age is common among children but in multiple form could also be an indication of the presence of an inherited disease. The sole presence of six or more CALMs at early childhood constitutes a high risk for having NF1 and it is one of the main clinical criteria used .…”

“…The sole presence of six or more CALMs at early childhood constitutes a high risk for having NF1 and it is one of the main clinical criteria used . However, multiple CALMs could also be indicative of other monogenic diseases, such as some RASopathies or other syndromes like PTEN hamartoma tumor or Cowden syndrome, Carney Syndrome or constitutive mismatch repair deficiency (CMMRD) …”

Treatment of Café‐Au‐Lait Spots Using Q‐Switched Alexandrite Laser: Analysis of Clinical Characteristics of 471 Children in Mainland China

“…Neurofibromatosis was present in four patients (6.25%) among those with multiple lesions ( n = 64, 13.59%). Multiple CALMs should alert the clinician to the possibility of neurofibromatosis , Albright syndrome , Watson syndrome, and other genetic diseases and solid tumors ; relevant genetic investigations are necessary in such cases.…”

Histological Patterns of Skin Lesions in Tuberous Sclerosis Complex: A Panorama

“…Café au lait spots are common, observed in 15 to 30% of CST patients, appearing in the first months of life. These lesions are not specific as they are seen in 16–19% of the general population [ 8 , 24 , 25 ].…”