Ebook Dermatology for the USMLE: Part 2
➤ Gửi thông báo lỗi ⚠️ Báo cáo tài liệu vi phạmNội dung chi tiết: Ebook Dermatology for the USMLE: Part 2
Ebook Dermatology for the USMLE: Part 2
Chapter 11INHERITED SKIN DISORDERSTable 11.1. Neurofibromatoses Diagnostic CriteriaNeurofibromatosis Type 1 (NF-1) •Neurofibromatosis Type 2 (NF-2) •• Ebook Dermatology for the USMLE: Part 2•1 ) a 6 cafe-au-lart spots (hyperpigmented macules) o 2 5 mm in diameter in pre-pubertal children o 2 IS mm in diameter in post-pubertal children 2) >2 axillary or inguinal freckles1) Bilateral vestibular schvzannomas3) z 2 typical neurofibromas or one plexiform neurofibroma 4 ) Optic nerve glioma Ebook Dermatology for the USMLE: Part 2S) z 2 iris hamartomas (Usch nodules)2) A first-degree relative with NF-2 AND Unilateral vestibular schwannoma OR Any two of: Meningioma, schwannoma,Ebook Dermatology for the USMLE: Part 2
glioma, neurofibroma, posterior subcapsular lenticular opacities6) Sphenoid dysplasia or typical long-bone abnormalities, such as pseudarthrosis3) UniChapter 11INHERITED SKIN DISORDERSTable 11.1. Neurofibromatoses Diagnostic CriteriaNeurofibromatosis Type 1 (NF-1) •Neurofibromatosis Type 2 (NF-2) •• Ebook Dermatology for the USMLE: Part 2relative with NF-14) Multiple meningiomas AND Unilateral vestibular schwannoma OR Any two of: Schwannoma, glioma, neurofibroma, cataract• Clinical diagnosis of NF-1 requires that an individual present with at least 2 of 7 of the above-mentioned criteria.Clinical diagnosis of NF2 requires that an ind Ebook Dermatology for the USMLE: Part 2rvidudl present with at least 1 of the 4 clinical scenarios mentioned above.1NEUROFIBROMATOSES• General: Autosomal dominant group of genetic disordersEbook Dermatology for the USMLE: Part 2
that affect boues. soft tissue, skiu and uervous system. Classified into neurofibromatosis type Ì (NF-1) and neurofibromatosis type 2 (NF-2).o NeurofChapter 11INHERITED SKIN DISORDERSTable 11.1. Neurofibromatoses Diagnostic CriteriaNeurofibromatosis Type 1 (NF-1) •Neurofibromatosis Type 2 (NF-2) •• Ebook Dermatology for the USMLE: Part 2. It is caused by AT-/ gene mutation on chromosome 17 leading to decreased production of the tumor suppressor protein neurofibi omin. NF-1 is associated with: pheochromocytomas, Chiari type-1 malformation and gastrointestinal stromal tumors (GIST).o Neurofibromatosis type 2 (NF-2): Also known as cen Ebook Dermatology for the USMLE: Part 2tral NT or bilateral acoustic neurofibromatosis, rarer neurocutaneous disorder occurring in 1:50.000 births. It is caused by NF-2 gene mutation on chrEbook Dermatology for the USMLE: Part 2
omosome 22 leading to decreased production of the tumor suppressor protein merlin.Neurofibromatosis (NF)66 • Dermatology for th•Clinicalo NeurofibromaChapter 11INHERITED SKIN DISORDERSTable 11.1. Neurofibromatoses Diagnostic CriteriaNeurofibromatosis Type 1 (NF-1) •Neurofibromatosis Type 2 (NF-2) •• Ebook Dermatology for the USMLE: Part 2reckles are common and become more prominent as the patient ages. Other common manifestations of NF-1 are:►Bone dysplasia and scoliosis.» Optic nerve gliomas and Iris hamartomas (Lisch nodules).o Neurofibromatosis type 2 (NF-2): Neurofibromas and cafẻ-au-lait spots may affect the skin, but NF-2 pati Ebook Dermatology for the USMLE: Part 2ents tend to have minimum or absenf cutaneous involvement. NF-2 is characterized by hearing loss, tinnitus and balance problems secondary to vestibulaEbook Dermatology for the USMLE: Part 2
r schwannomas (acoustic neuromas). Other common manifestations ofNF-2 are:►Gliomas and meningiomas.» Hydrocephalus, seizures and cranial nerves and moChapter 11INHERITED SKIN DISORDERSTable 11.1. Neurofibromatoses Diagnostic CriteriaNeurofibromatosis Type 1 (NF-1) •Neurofibromatosis Type 2 (NF-2) •• Ebook Dermatology for the USMLE: Part 2ting for NF-i and NF-2 gene mutations is helpful when positive (most specific). If symptomatic, order brain MRI to detect intracranial tumors. If patient has hypertension, consider urinary or plasma free metanephrines to screen for pheochromocytoma. For NF-1. slitlamp eye examination for Lisch nodul Ebook Dermatology for the USMLE: Part 2es. ForNF-2. eye examination for lenticular opacities.•Treatmento First line: Annual routine examination to detect and minimize complications. There iEbook Dermatology for the USMLE: Part 2
s no cure.o Second line: Surgical excision for painful and laige neurofibromas or schwannomas.2MCCUNE-ALBRIGHT SYNDROME (MAS)•General: Genetic disordeChapter 11INHERITED SKIN DISORDERSTable 11.1. Neurofibromatoses Diagnostic CriteriaNeurofibromatosis Type 1 (NF-1) •Neurofibromatosis Type 2 (NF-2) •• Ebook Dermatology for the USMLE: Part 2tein and persistent high levels of intracellular CAMP. MAS is associated with:o Hyperthyroidismo Hypophosphatemic ricketso Acromegaly and Cushing syndrome•Clinicalo Skin: Café-au-lait macules are usually unilateral and do not cross the midline. These pigmented macules often have irregular borders re Ebook Dermatology for the USMLE: Part 2sembling the "coast of Maine” compared with the smooth border cafe-au-lait spots typical in NF-1 (resembling the “coast or California”). Contrary to NEbook Dermatology for the USMLE: Part 2
F-1. MAS lacks axillary and inguinal freckling. Later in life, oral hyperpjgmentatioii may occur similar to that seen m Peutz-Jeghers syndrome and AddChapter 11INHERITED SKIN DISORDERSTable 11.1. Neurofibromatoses Diagnostic CriteriaNeurofibromatosis Type 1 (NF-1) •Neurofibromatosis Type 2 (NF-2) •• Ebook Dermatology for the USMLE: Part 2one pain, palpable masses and gait abnormalities.Chapter 11INHERITED SKIN DISORDERSTable 11.1. Neurofibromatoses Diagnostic CriteriaNeurofibromatosis Type 1 (NF-1) •Neurofibromatosis Type 2 (NF-2) ••Gọi ngay
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