Presentation Age-related penetrance is seen in HHT. [2] It does not present at birth but commonly presents with recurrent epistaxis, usually in the teenage years. People with the condition develop mucocutaneous lesions, usually involving the nasal mucosa, lips and tongue. These lesions are sharply demarcated red-purple macules, papules or spider-like lesions comprising a mat of tortuous vessels...

Ataxia-telangiectasia (A-T) is a rare hereditary neurodegenerative disorder. Ataxia and telangiectasias are the hallmarks of the disease. A spectrum of manifestations may be seen in one family. There is no gold standard diagnostic test and diagnosis relies on clinical evaluation, exclusion of similar conditions, and supportive laboratory tests. More than 99% of individuals with classic A-T have...

We report a case of progressive multifocal intracranial distal arterial branch occlusive disease in a young adult who smoked heavily and used oral contraceptives. The distribution of the angiographic lesions and the associated telangiectasias and rete mirabile resemble Moya-Moya disease except for clearly absent proximal carotid arterial disease. This type of distal multifocal cerebral arterial...

BACKGROUND AND OBJECTIVES Many laser, light and energy emitting devices are utilized for skin rejuvenation. STUDY DESIGN/MATERIALS AND METHODS The clinical approach to multiple problems of photoaging are discussed and an algorithm for approach by problem is presented. RESULTS Clinical use of various modalities such as LED photomodulation, intense pulsed light, pulsed dye laser, KTP laser, r...

A new technique for detecting vascular malformations, high-resolution BOLD venography (HRBV), is described. This technique relies on the BOLD principle for detecting deoxygenated blood in low-flow malformations. HRBV images are acquired using a modified 3D gradient-echo with voxel volumes of 0.5 x 0.5 x 2 mm3. The magnitude data are masked with the phase images to enhance visibility of the veno...

inherited facial palsy without involvement of other cranial nerves or facial and limb anomalies has been reported rarely in the literature. in the classic mobius syndrome, as a syndrome of rhombencephalic development, in addition to facial palsy, there are bilateral or unilateral abducens palsy, dysmorphic facial features, and limb anomalies. we found 11 patients with isolated facial palsy in f...

The complaint of new floaters in the visual field is a common one in the practice of Family Medicine. Whereas these can represent serious problems such as a detached retina, it can also be representative of normal aging of the vitreous humor. In a young patient with this complaint, we were surprised to find that this occurred because of a branch retinal artery occlusion that led to the diagnosi...

Rendu-Osler-Weber disease is a rare autosomal dominant disorder. Hepatic involvement manifests itself as vascular, parenchymal, and biliary lesions with characteristic telangiectasias and vascular shunts. In a 37-year-old female patient, dynamic contrast-enhanced upper abdominal CT and MRI were performed. CT and MRI revealed dilated celiac trunk and hepatic artery. On early arterial phase, dila...

We herein report a case of hair follicle nevus, a rare hamartoma found on the face and showing follicular differentiation, which was associated with sebaceous hyperplasia. Dermoscopy of the lesion showed yellow globules surrounded by crown vessels/telangiectasias and scattered tiny hairs. Histopathological investigation revealed hyperplasia of the sebaceous glands and proliferation of well-diff...

Necrobiosis lipoidica (NL) is a cutaneous disease entity that typically manifests as atrophic yellow plaques with telangiectasias on the anterior tibial region. Although NL is commonly associated with diabetes mellitus, the role of trauma in disease development is less commonly emphasized. The relationship between NL and the Köbner phenomenon has been established, as a few cases of NL occurring...