Nevus lipomatosus superficialis is a rare hamartomatous malformation which is composed of ectopic adipocytes in the dermis. It was first reported in 1921 by Hoffmann and Zurhelle. Two clinical forms of nevus lipomatosus superficialis have been described: classical (multiple) and solitary. Classical form of nevus lipomatosus superficialis is usually found on pelvic girdle, trunk, buttocks and thighs as soft, skin colored papules or nodules. It is usually present at birth or it appears in the first two decades of life. The solitary form of lipomatosus superficialis appears as a solitary papule or nodule on the back, scalp and arms of the patients with late onset. The lesions are usually asymptomatic, however some patients may complain about pain and itching. Malignant transformation of nevus lipomatosis superficialis has not been reported yet. Therefore, surgical intervention is only necessary for the patients who have cosmetic concerns. Recurrence after surgical removal is very rare. Perineum is an uncommon localization for nevus lipomatosus superficialis. Hereby, we report a 55-year-old Caucasian female with a 6x5,5x4 cm mass in the perineal region. The patient had cosmetic concerns, therefore she wanted the lesion to be removed surgically. The lesion was surgically removed. The histopathological evaluation of the specimen revealed nevus lipomatosus superficialis. A solitary type of giant nevus lipomatosus superficialis in the perineal region of a patient over the age of 50 is a very rare condition. Even rarely seen, nevus lipomatosus superficialis should be kept in mind in the differential diagnosis of perineal masses., Funda Tamer, Mehmet Eren Yuksel, and Literatura
Hereditární hemoragická teleangiektázie neboli morbus Rendu‑Osler‑Weber je fibrovaskulární dysplazie s autozomálně dominantní dědičností charakteristická přítomností teleangiektázií a arteriovenózních malformací kůže, sliznic a vnitřních orgánů. Plicní arteriovenózní malformace jako zdroj septických embolů mohou zapříčinit vznik mozkového abscesu, který tak bývá prvním a často jediným projevem heriditární hemoragické teleangiektázie. V práci jsou prezentovány tři kazuistiky pacientů trpících touto chorobou, kde prvním a závažným příznakem byl vzniklý mozkový absces. Protože se jedná o relativně vzácné onemocnění, nebývá vždy zvažováno v rámci diferenciální diagnostiky a tím pádem ani diagnostikováno. U každého pacienta s mozkovým abscesem je nezbytné na toto onemocnění pomýšlet a v případě podezření je nutné jej řádně vyšetřit. Při verifikované plicní arteriovenózní malformaci je třeba ji ošetřit a zabránit tak vzniku recidivujících mozkových abscesů. Péče o tyto pacienty je komplexní a multioborová., Hereditary hemorrhagic telangiectasia or Rendu‑Osler‑Weber disease is an autosomal‑dominant disorder that results in fibrovascular dysplasia and is characterized by telangiectases and arteriovenous malformation of the skin, mucosa and viscera. Pulmonary arteriovenous malformations as a source of septic emboli may give rise to brain abscess that so often is the first and only clinical manifestation of hereditary hemorrhagic telangiectasia. Three cases of patients suffering from this disease with brain abscess as the first and serious symptom are presented. Since this is a relatively rare disease, it is not always considered in the differential diagnosis and thus not diagnosed. This disease has to be considered in patients with brain abscess and, in case of a suspicion, it must be properly examined. When pulmonary arteriovenous malformation is verified, it has to be treated in order to prevent recurrent brain abscesses. Care of these patients should be comprehensive and multidisciplinary. Key words: hereditary hemorrhagic telangiectasia – Rendu-Osler-Weber disease – brain abscess – arteriovenous malformation – epistaxis – endoglin The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers., and G. Hanoun, V. Vybíhal, M. Sova, J. Boudný, T. Svoboda, M. Smrčka