Multiple Cafe au Lait Spots in a Group of Fair-Skinned Children without Signs or Symptoms of Neurofibromatosis Type 1

BACKGROUND: The presence of six or more cafe au lait (CAL) spots is a criterion for the diagnosis of neurofibromatosis type 1 (NF-1). Children with multiple CAL spots are often referred to dermatologists for NF-1 screening. The objective of this case series is to characterize a subset of fair-complected children with red or blond hair and multiple feathery CAL spots who did not meet the criteria for NF-1 at the time of their last evaluation. METHODS: We conducted a chart review of eight patients seen in our pediatric dermatology clinic who were previously identified as having multiple CAL spots and no other signs or symptoms of NF-1. RESULTS: We describe eight patients ages 2 to 9 years old with multiple, irregular CAL spots with feathery borders and no other signs or symptoms of NF-1. Most of these patients had red or blond hair and were fair complected. All patients were evaluated in our pediatric dermatology clinic, some with a geneticist. The number of CAL spots per patient ranged from 5 to 15 (mean 9.4, median 9). CONCLUSION: A subset of children, many with fair complexions and red or blond hair, has an increased number of feathery CAL spots and appears unlikely to develop NF-1, although genetic testing was not conducted. It is important to recognize the benign nature of CAL spots in these patients so that appropriate screening and follow-up recommendations may be made

Role of Comorbidities in the General Management of Compensated Cirrhosis, Including Malnutrition

At the time of diagnosis, up to 40% of patients with cirrhosis suffer from at least one other disease. This observation underscores an important problem in daily practice because comorbidities can influence the management of portal hypertension and can play a role in the evolution of cirrhosis by constituting an additional risk of decompensation and mortality. In compensated cirrhosis the best studied comorbidity is obesity that is an independent risk factor of first decompensation. Comorbidities in need of surgery, the most frequent gallstones and hernia, are also a frequent clinical problem to face since the intervention may increase the risk of decompensation and mortality. At present the Mayo Clinic score is the most validated to predict perioperative and postoperative mortality. Malnutrition is a frequent feature in patients with cirrhosis. In the same fashion of non-cirrhotic patients, malnutrition influences the quality of life of patients with cirrhosis. Moreover, it can have an impact on mortality and the development of ascites, HE, or variceal bleeding in patients with compensated cirrhosis, but further studies are needed to draw definitive conclusions on this topic