ABSTRACT
Neurofibromatosis type 1 (NF1) is a genetic disorder affecting the skin, nervous system, eyes and bones. Pulmonary involvement is unknown to many physicians. Yet, patients may be affected by lung bullae and cysts, which represent an increased risk for secondary spontaneous pneumothorax (SSP). We present a 56-year-old patient with a pathogenic variant of the NF1 gene, who suffered from NF1 with lung manifestations and recurrent SSP. It is essential to identify the patients having an increased risk of developing SSP as preventive surgery seem to decrease the risk of new events. Pneumothorax can be a clinical manifestation of NF1 but is not yet widely acknowledged as such.
Subject(s)
Lung Diseases , Neurofibromatosis 1 , Pneumothorax , Humans , Lung , Middle Aged , Neurofibromatosis 1/complications , Pneumothorax/diagnostic imaging , Pneumothorax/etiologyABSTRACT
One in every 2,000 girls has hymen imperforatus. A few are recognized at birth because of mucocolpos. The rest are not detected before puberty. Typical symptoms are abdominal pain and distension of the lower abdomen, and half of the girls present with acute urinary retention. A case is presented where the symptoms started after a minor trauma. Diagnosis and treatment are easy. Complications can be infertility, endometriosis and adhesions.
