Facial and Upper Body Papules in a Patient With a Family History of Recurrent Pneumothorax

Abstract

31-YEAR-OLD WOMAN PRESENTS WITH A 10-YEAR HISTORY OF PROGRESSIVE development of small, whitish/skin-colored papules across her forehead, neck, and upper back (FIGURE , A). She also has scattered skin tags in this distribution. The patient also reports that her brother and father have similar papular facial rashes, and her father has had recurrent pneumothoraces in the past, necessitating pleurectomy. A skin biopsy obtained from a representative lesion confirms the presence of fibrofolliculomas (Figure , B). What Would You DoNext? A. Schedule colonoscopy B. Schedule cranial computed tomography C. Schedule pleurectomy D. Schedule renal tract ultrasonography See www.jama.com for online Clinical Challenge. B A Figure. A, Close-up of papules on the patient's upper back. B, Skin biopsy from representative lesion showing follicular distortion and a thin band of follicular epithelium extending into fibrous stroma (hematoxylin-eosin, original magnification ϫ10).

Video-Assisted Thoracoscopic Surgery for the Treatment of First-Time Spontaneous Pneumothorax versus Conservative Treatment

“…In agreement with other studies, (7)(8)(9) all patients of the present series presented with sudden onset of chest pain with shortness in breath. Noppen and de Keukeleire, (10) recorded that in the majority of cases pain usually resolves within one day even though pneumothorax still exists with signs indicating free air in the pleural space, a finding which was not recorded in our study.…”

“…Diagnosis of primary spontaneous pneumothorax is confirmed in most of the cases by chest x-rays, where the rim of air between the chest wall and the lung can be determined and used to assess accurately the pneumothorax size. (8)(9)(10) If the patient has a small pneumothorax chest CT can be used to confirm diagnosis along with detection of amount of air in pleural cavity, any blebs, or fluid collection.…”

“…(3,4,7) Initial management of PSP includes observation with oxygen supplementation if the chest x-rays or CT scan show that the pneumothorax rim is less than 3 cm between the chest wall and the lung; however, if the rim of air is more than 3 cm, needle aspiration of air from the pleural cavity is tried first and its failure indicates insertion of chest tube. (8)(9)(10) Open thoracotomy or the more preferred, VATS are indicated by most of the investigators if there is apersistent air leak for more than 7 days or if the lung fails to reexpand or both after insertion of chest tube, in addition, other indications of surgical interference include; synchronous bilateral pneumothorax, hemopneumothorax, tension pneumothorax, and recurrence.…”

Cystic Lung Disease in Genetic Syndromes with Deficient Tumor Suppressor Gene Function

“…The skins lesions can be removed surgically – or with laser therapy or curettage for cosmetic reasons, but they tend to recur [190-193]. A recent trial of topical sirolimus has shown no improvement with regard to the number and size of fibrofolliculomas in patients with BHD [194].…”

Familiäre pulmonale Zysten und papulöse Hauteffloreszenzen bei einer 37-jährigen Patientin

“…Dieses befindet sich auf Chromosom 17. Das Protein FLCN ist in unterschiedlichen Geweben lokalisiert, darunter auch in der Haut und im Lungen-und Nierenparenchym [8]. FLCN bildet einen Komplex mit den Proteinen FNIP1 und FNIP2, der wiederum mit Signalmolekülen wie AMPK und mTOR interagiert.…”