Neurofibroma, a benign peripheral nerve sheath tumor, usually appears together with café-au-lait spots, iris nodules, and other tumors within the scope of neurofibromatosis von Recklinghausen type 1 tumors. A solitary neurofibroma of the eyelid is relatively rare. In this case report, we present a 39-year-old woman who had a lesion on the eyelid crease, previously treated as a chalazion. Due to...

Several studies describe the frequent association of cafe-au-lait spots with neurofibromatosis. However, many other genetic diseases might be associated presence café-au-lait spots. are rare. In most cases, syndromes present themselves as a set signs and symptoms that may varied penetrance, therefore largely reducing percentage final diagnosis. Exploration clinical symptomatology is essential f...

Bloom syndrome is an extremely rare inherited disorder. We present a case of Bloom syndrome with a chromosomal study in a Mexican five-year-old patient who presented growth retardation, narrow facies with poikiloderma, café-au-lait, macules and photosensitivity.

Turcot syndrome is an autosomal recessive disorder clinically characterized by the occurrence of primary tumors of the central nervous system and adenomatous colonic polyps during the first or second decades of life, with a spectrum of clinical features such as "café-au-lait" spots, axillary freckling, and hyperpigmented spots. Currently its prevalence globally and in Colombia remains unknown. ...

INTRODUCTION Neurofibromatosis 1 is one of the most common heritable genetic disorders in humans. It is characterized by formation of neurofibromas, with marked variability in expression. Half the cases are due to autosomal dominant inheritance; the rest arise from de novo mutations. Prevalence varies by population, and prevalence in Cuba is unknown. OBJECTIVE Determine the prevalence of neurof...

Background and aim: It is possible to use light sources suxh as lasers to destruct melanosomes and treat pigmented skin lesions. One of the most commonly used laser systems is Q switched ruby laser with a wave-length of 694 nm. This study was performed to evaluate the efficacy of the Q switched ruby laser in the treatment of pigmented skin lesions including lentigines (simplex or solar) and caf...

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 ma...