The cause of hyperpigmentation usually is traced to the activity and presence of melanocytes. Café au lait macules may be solitary benign findings or may indicate the presence of neurofibromatosis with its associated complications. Diffuse hyperpigmentation should prompt a search for offending medications or systemic diseases such as hemochromatosis, hyperthyroidism, and Addison's disease. In t...

BACKGROUND Endometriosis is an important women's health issue, however its aetiology remains unknown. An association between endometriosis and cutaneous melanoma was described, possibly explained through common genetic features. To further investigate this association, we assessed the link between phenotypic traits predisposing to melanoma and the risk of endometriosis. METHODS Using a case-c...

BACKGROUND Oculocutaneous albinism (OCA) is the most common inherited disorder in Southern African blacks and several types have been described. Molecular techniques, where available, can be used to confirm a clinical diagnosis and the type of OCA, if necessary, and for prenatal diagnosis. OBJECTIVES To investigate and classify the different types of albinism commonly found and to determine t...

OBJECTIVES To investigate the spectrum of growth rates in melanomas and to identify clinical associations of rapidly growing melanomas. DESIGN Clinical interview, skin examination, and pathology review. SETTING Three tertiary melanoma referral centers and 2 private dermatology practices. PATIENTS A total of 404 consecutive patients with invasive primary cutaneous melanomas. MAIN OUTCOME...

Neurofibromatosis-Noonan syndrome is a rare RASopathy syndrome. It occurs due to the mutation in NF1 gene and patients present with phenotypic features of both Neurofibromatosis Noonan Here case an early adolescent girl described who presented chief complaint primary amenorrhoea on evaluation was diagnosed be patient The index short-statured short broad neck. Physical examination revealed point...

CONTEXT High nevus density is a risk factor for cutaneous malignant melanoma. Melanocytic nevi originate in childhood and are largely caused by solar exposure. OBJECTIVE To determine whether use of broad-spectrum, high-sun protection factor (SPF) sunscreen attenuates development of nevi in white children. DESIGN Randomized trial conducted June 1993 to May 1996. SETTING AND PARTICIPANTS A ...

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...