In?vivo diagnosis of intraductal papillary mucinous neoplasm with per-oral pancreatoscopy–guided confocal laser endomicroscopy

摘要

A 19-year-old Taiwanese man presented with a 9-year historyof coarse facial appearance with greasy erythematous papulopustules. The skin was markedly thickened (pachydermia), with deepnasolabial folds and particularly horizontal frontal folds and vertical glabellar furrows on the forehead, causing a premature appearance (Fig. 1A). In addition, undulating grooves appeared over thescalp (cutis verticisgyrata) (Fig. 1B). Asymptomatic pandigital clubbing and bulbous enlargement of the fingers and toes (Fig. 1C andD) developed insidiously and progressed gradually. He was evertreated with oral retinoic acid and laser therapy 5 years ago, butwithout improvement. Since then, he did not take any oral medication. He once suffered from finger joint pain 3 years ago, whichseverely limited his ability to grasp objects, and subsided within afew weeks thereafter spontaneously. Laboratory test results werewithin the normal ranges for the following: growth hormone,insulin-like growth factor 1, follicle-stimulating hormone, luteinizing hormone, prolactin, testosterone, and thyroid/adrenal profile.Roentgenography of the hands/feet and long bones showed periosteal proliferation (Fig. 1E and F). Magnetic resonance imaging ofthe pituitary fossa revealed no tumor mass. An incisional skin biopsy over the forehead lesion showed fibrosis, sebaceous, andeccrine gland hyperplasia in the dermis (Fig. 2A and B). Histochemical staining revealed elastic fiber degeneration and mucindeposition over the entire dermis (Fig. 2C and D). Both tryptaseand CD117 staining revealed abundant mast cells (Fig. 2E and F).After excluding other secondary hypertrophic osteoarthropathy,the correlation of the clinical condition, radiologic and pathologicimages are compatible with the diagnosis of pachydermoperiostosis (PDP). Considering that the primary cause of these pronounceddeep wrinkles is the thickened dermis and low skin tensions overthe forehead, surgical excision is warranted for effective cosmeticcorrection (Fig. 1G). He was satisfied with the surgical outcomeone month later (Fig. 1H).