منابع مشابه
Molecular screening strategies for NF1-like syndromes with café-au-lait macules
Multiple café-au-lait macules (CALM) are usually associated with neurofibromatosis type 1 (NF1), one of the most common hereditary disorders. However, a group of genetic disorders presenting with CALM have mutations that are involved in human skin pigmentation regulation signaling pathways, including KIT ligand/KIT proto‑oncogene receptor tyrosine kinase and Ras/mitogen‑activated protein kinase...
متن کاملCafé-au-lait macules: occasional fatal sequels of benign pigmented lesions.
We report a case of sudden death in a 28-year-old male diagnosed with neurofibromatosis at the age of 6 years. The patient had multiple café-au-lait spots which, although being benign, were an ominous sign in this context. The immediate cause of death was intrathoracic neurofibroma causing compression that led to fracture of the thoracic vertebrae and laceration of the aorta with massive hemoth...
متن کاملDiagnostic and pathogenetic role of café-au-lait macules in nevoid basal cell carcinoma syndrome
Café au lait spots (CALS) are common dermatologic findings that can at the same time arise in a variety of pathologic conditions such as Neurofibromatosis type 1 (NF1), together with numerous hereditary syndromes for which they represent either diagnostic criteria or associated elements (McCune Albright, Silver-Russell, LEOPARD, Ataxia-Telangiectasia). A review of the literature also revealed t...
متن کاملOrbital neurilemmoma with café-au-lait pigmentation of the skin.
Examination.-The left eye was normal with visual acuity 6/12. The right eye showed proptosis 20 mm. (left 15 mm.), and deviated outwards with limitation of ocular movements inwards. The fundus showed optic atrophy and the visual acuity was hand movements. A firm mass was felt in the inner side of the orbit extending backwards. Surgery.-Through a medial fomix conjunctival incision the tumour was...
متن کاملCommon hyperpigmentation disorders in adults: Part I. Diagnostic approach, café au lait macules, diffuse hyperpigmentation, sun exposure, and phototoxic reactions.
The cause of hyperpigmentation usually is traced to the activity and presence of melanocytes. Café au lait macules may be solitary benign findings or may indicate the presence of neurofibromatosis with its associated complications. Diffuse hyperpigmentation should prompt a search for offending medications or systemic diseases such as hemochromatosis, hyperthyroidism, and Addison's disease. In t...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Indian Journal of Paediatric Dermatology
سال: 2021
ISSN: 2319-7250
DOI: 10.4103/ijpd.ijpd_62_21