Whorled hairless nevus of the scalp, linear hyperpigmentation, and telangiectatic nevi of the lower limbs: a novel variant of the "phacomatosis complex".

The term "phacomatosis" refers to a growing number of sporadic genetic skin disorders characterized by the combination of two or more different nevi and possibly resulting from non-allelic twin spotting. While phacomatosis pigmentovascularis (PPV) and pigmentokeratotica represent the most common patterns, some patients do not fit with either condition and are temporarily classified as unique phenotypes. We report on an 8-year-old boy with striking right hemihypoplasia, resulting in limb asymmetry and fixed dislocation of right hip. Skin on the affected side showed three distinct nevi: (i) A whorled, hairless nevus of the scalp in close proximity with (ii) epidermal hyperpigmentation following lines of Blaschko on the neck and right upper limb, and (iii) multiple telangiectatic nevi of the right lower limb and hemiscrotum. Didymosis atricho-melanotica was proposed for the combination of adjacent patchy congenital alopecia and linear hyperpigmentation, while phacomatosis atricho-pigmento-vascularis appears to define the entire cutaneous phenotype, thus implying the involvement of three neighboring loci influencing the development of distinct constituents of the skin. Given the striking asymmetry of the observed phenotype, the effect of mosaicism (either genomic or functional) for a mutation in a single gene with pleiotropic action and influenced by the lateralization pattern of early development cannot be excluded.

Bowel intussusception in adult: Prevalence, diagnostic tools and therapy.

Intussusception is defined as invagination of one segment of the bowel into an immediately adjacent segment. The intussusception refers to the proximal segment that invaginates into the distal segment, or the intussusception (recipient segment). Intussusception, more common occur in the small bowel and rarely involve only the large bowel. In direct contrast to pediatric etiologies, adult intussusception is associated with an identifiable cause in almost all the symptomatic cases while the idiopathic causes are extremely rare. As there are many common causes of acute abdomen, intussusception should be considered when more frequent etiologies have been ruled out. In this review, we discuss the symptoms, location, etiology, characteristics, diagnostic methods and treatment strategies of this rare and enigmatic clinical entity in adult.

Giant splenic artery aneurysm presenting with massive upper gastrointestinal bleeding: A case report and review of literature.

BACKGROUND: Splenic artery aneurysm (SAA) and pseudoaneurysm are rare vessel's lesions. Pseudoaneurysm is often symptomatic and secondary to pancreatitis or trauma. True SAA is the most common aneurysm of visceral vessels. In contrast to pseudoaneurysm, SAA is usually asymptomatic until the rupture, with high mortality rate. The clinical onset of SSA's rupture is a massive life-threatening bleeding with hemodynamic instability, usually into the free peritoneal space and more rarely into the gastrointestinal tract. CASE SUMMARY: We describe the case of a 35-year-old male patient, with negative past medical history, who presented to the emergency department for massive upper gastrointestinal bleeding, severe anemia and hypotension. An esophagogastroduodenoscopy performed in emergency showed a gastric bulging in the greater curvature/posterior wall with a small erosion on its surface, with a visible vessel, but no active bleeding. Endoscopic injection therapy with cyanoacrylate glue was performed. Urgent contrast-enhanced computed tomography was carried out due to the clinical scenario and the unclear endoscopic aspect: The radiological examination showed a giant SAA which was adherent to posterior stomach wall, and some smaller aneurysms of the left gastric and ileocolic artery. Because of the high risk of a two-stage rupture of the giant SAA with dramatic outcome, the patient underwent immediate open surgery with aneurysmectomy, splenectomy and distal pancreatectomy with a good postoperative outcome. CONCLUSION: The management of a ruptured giant SAA into the stomach can be successful with surgical approach.