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181. Corkscrew retinal vessels and retinal arterial macroaneurysm in a patient with neurofibromatosis type 1: A case report. Full Text available with Trip Pro

with 2 simultaneous vascular abnormalities, involving tiny spiral venous changes (corkscrew retinal vessels) and retinal arterial macroaneurysms. Our patient was diagnosed with NF-1 as she met the following National Institutes of Health consensus criteria for the diagnosis of NF-1: more than 6 cafe au lait macules, of a maximum diameter ≥15mm, 2 neurofibromas within the dermis, and Lisch nodules on the iris.Retinal arterial macroaneurysm in the left eye, corkscrew retinal vessels related to NF-1

2018 Medicine

182. The value of 18F-FDG PET/CT in patient with neurofibromatosis type 1: A case report and literature review. Full Text available with Trip Pro

presented with numerous lentigines and multiple café-au-lait macules on his body.These were collagen neurofibroma, which were definitively diagnosed by pathology. NF1 was eventually diagnosed.These lesions were abnormal uptake of radiotracer, when he underwent positron emission tomography (PET) with fluorine-18-fluorodeoxyglucose (FDG) scanning. Standard uptake value (SUV) and other parameters can help to distinguish benign and malignant lesions in patient with NF1. He was underwent serials F-FDG PET/CT

2018 Medicine

183. Decreased choroidal thickness in vitiligo patients. Full Text available with Trip Pro

Decreased choroidal thickness in vitiligo patients. Vitiligo is a disease characterized by depigmented macules and patches that occur as a result of the loss of functional melanocytes from the affected skin through a mechanism which has not been elucidated yet. Destruction of pigment cells in vitiligo may not remain limited to the skin; the eyelashes, iris, ciliary body, choroid, retinal pigment epithelium and meninges may also be affected. This study aims to compare the choroidal thickness

2018 BMC Ophthalmology

184. Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report. Full Text available with Trip Pro

with hypopigmented macules involving the face, neck and extremities, hyperkeratosis of palms and soles, nail dystrophy, leukoplakia of the tongue, premature graying of hair, watery eyes and dental caries. Several of his male relatives, including two maternal uncles and three maternal cousins were affected with a similar type of disease condition. Pedigree analysis suggested a possible X-linked pattern of inheritance. Genetic testing in the proband showed a novel hemizygous, non-synonymous likely pathogenic

2018 BMC Medical Genetics

185. A novel TSC2 missense variant associated with a variable phenotype of tuberous sclerosis complex: case report of a Chinese family. Full Text available with Trip Pro

TSC family with two siblings presenting with multiple hypomelanotic macules, cardiac rhabdomyomas and cortical tubers associated with a small subependymal nodule. The older child had seizures. A novel heterozygous missense variant in the TSC2 gene (c.899G > T, p.G300 V) was identified and shown to be inherited from their father as well as paternal grandfather, both of whom presented with variable TSC-associated signs and symptoms.We identified a novel heterozygous TSC2 variant c.899G > T

2018 BMC Medical Genetics

186. Treatment of Seborrheic Dermatitis: A Comprehensive Review. (Abstract)

Treatment of Seborrheic Dermatitis: A Comprehensive Review. Seborrheic dermatitis (SD) is a chronic, recurring inflammatory skin disorder that manifests as erythematous macules or plaques with varying levels of scaling associated with pruritus. The condition typically occurs as an inflammatory response to Malassezia species and tends to occur on seborrheic areas, such as the scalp, face, chest, back, axilla, and groin areas. SD treatment focuses on clearing signs of the disease; ameliorating

2018 Journal of Dermatological Treatment

187. Oral lichen sclerosus: an overview and report of three cases. (Abstract)

lichen sclerosus should be included in the differential diagnosis of porcelain- or ivory-white macules. Here we present three new cases of oral lichen sclerosus. A review of these cases and the previously reported cases revealed that oral lichen sclerosus is slightly more common in women and can affect individuals of any age. Oral lesions of lichen sclerosus usually do not require treatment, except when there are significant symptoms or aesthetic complaint. Almost 50% of the patients with oral lichen

2018 International Journal of Oral and Maxillofacial Surgery

188. Multi-center Clinical Study on the Diagnosis and Treatment Management of Rare Neurological Disease in Children

in an individual in his twenties or middle age. Magnetic resonance imaging shows cerebral demyelination. 2. Dystrophin gene mutation: The diagnosis of X-ALD is usually established in a female proband with detection of a heterozygous ABCD1 pathogenic variant and elevated VLCFA. Exclusion Criteria: None. - 4. TSC: Inclusion criteria:patients meet the all the following criteria: A. Clinical diagnostic criteria: Major features: (1) Hypomelanotic macules (≥3, at least 5-mm diameter). (2) Angiofibromas (≥3

2018 Clinical Trials

189. Dermatological manifestations in Noonan syndrome: A prospective multicentric study of 129 mutation-positive patients. (Abstract)

, multicentric, collaborative dermatological and genetic study.Overall, 129 patients with NS were enrolled, including 65 patients with PTPN11-NS, 34 patients with PTPN11-NS with multiple lentigines (NSML), and 30 patients with NS who had a mutation other than PTPN11. Easy bruising was the most frequent dermatological finding in PTPN11-NS, present in 53·8% of patients. Multiple lentigines and café-au-lait macules (n ≥ 3) were present in 94% and 80% of cases of NSML linked to specific mutations of PTPN11

2018 British Journal of Dermatology

190. A case report of lupus erythematosus tumidus converted from discoid lupus erythematosus. Full Text available with Trip Pro

, including prominent swelling of the eyelids, a few erythematous, edematous plaques on the left forehead, face, and neck, and 2 hairless macules. The histopathologic findings reveal liquefaction degeneration of the basal cells, perivascular, and periadnexal infiltration of lymphocytes, and interstitial mucin deposition in the superficial, and deep dermis.A diagnosis of LET was made on clinical and histological features.The patient started treatment with prednisolone (1 mg/kg. d), combined

2018 Medicine

191. Melanocyte abnormalities and senescence in the pathogenesis of idiopathic guttate hypomelanosis. (Abstract)

Melanocyte abnormalities and senescence in the pathogenesis of idiopathic guttate hypomelanosis. Idiopathic guttate hypomelanosis (IGH) is a pigmentary disorder of unknown pathogenesis characterized by small discrete white macules. In the skin, epidermal melanin unit between melanocytes and keratinocytes is responsible for melanin synthesis and equal distribution of melanin pigment.Therefore, this study was designed to check the role of melanocytes in the pathogenesis of IGH.For this study, six

2018 International Journal of Dermatology

192. Gigantism in a McCune-Albright’s syndrome with calcified GH-releasing pituitary adenoma: Case report and literature review Full Text available with Trip Pro

Gigantism in a McCune-Albright’s syndrome with calcified GH-releasing pituitary adenoma: Case report and literature review McCune-Albright's syndrome (MAS) is a rare disorder that is characterized by café-au-lait macules, fibrous dysplasia of the skull and endocrinopathies like excessive secretion of growth hormone by a hyper-functional pituitary adenoma (PA).We describe the case of a 43-year-old male with history of Gigantism in 1990 secondary to a GH-secreting pituitary macroadenoma

2018 International journal of surgery case reports

193. Bimatoprost 0.03% Solution With NB-UVB Versus Their Use With Fractional Carbon Dioxide Laser in Treatment of Generalized Vitiligo

participating. Read our for details. Identifier: NCT03487042 Recruitment Status : Not yet recruiting First Posted : April 3, 2018 Last Update Posted : April 3, 2018 See Sponsor: Assiut University Information provided by (Responsible Party): Aml Hassan Ali, Assiut University Study Details Study Description Go to Brief Summary: Vitiligo is a chronic disorder of pigmentation characterized by the development of white macules on the skin due to loss of epidermal melanocytes. It affects

2018 Clinical Trials

194. A secondary syphilis rash with scaly target lesions Full Text available with Trip Pro

virus positive. The characteristic rash of secondary syphilis may appear as maculopapular, evolving initially from macules to small reddish-brown papules with minor scaling later. When the scaling is prominent, lesions can be difficult to differentiate from guttate psoriasis. Typical target lesions are most often associated with erythema multiforme, but they can rarely occur in secondary and congenital syphilis. Syphilis should be suspected in high-risk patients presenting a variety of atypical

2018 Oxford Medical Case Reports

195. An unusual lesion on the nose: microvenular hemangioma Full Text available with Trip Pro

cases revealed that 15% of MVH patients were over 40 years of age and only 3% of the cases showed macules or patches. A literature survey showed only two cases of MVH located on the facial region, one on the chin and the other on the cheek. Our case was unique for its location and interesting for other rarely encountered features. MVH should be considered in the differential diagnoses of vascular lesions on nasal skin.

2018 Dermatology practical & conceptual

196. Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures? Full Text available with Trip Pro

for early diagnosis.82/100 children were diagnosed with TSC within the first 4 months of life. Apart from cardiac tumors, the most frequently observed early TSC signs were subependymal nodules (71/100, 71%), cortical dysplasia (66/100, 66%), and hypomelanotic macules (35/100, 35%). The most useful clinical studies for early TSC diagnosis were brain magnetic resonance imaging (MRI), skin examination and echocardiography. Genetic testing was performed in 49/100 of the patients, but the results were

2018 Orphanet journal of rare diseases

197. A Cross-Sectional Assessment of Cutaneous Lumbosacral and Coccygeal Physical Examination Findings in a Healthy Newborn Population Full Text available with Trip Pro

lumbosacral and/or coccygeal hairiness. All racial/ethnic groups had double to quadruple the risk of lumbosacral hair when compared with Caucasians. A total of 44.1% of study infants had lumbosacral/coccygeal slate-grey patches, which were least common in Caucasians. Seven infants had coccygeal skin tags, and 14 infants had lumbosacral vascular macules. Thirty-one percent had more than 1 cutaneous lumbosacral finding present, 24.8% had 2 findings, and 6.2% had 3 or more findings. Conclusion. Coccygeal

2018 Global pediatric health

198. Sclérose tubéreuse de Bourneville: importance de l’anamnèse et de la clinique Full Text available with Trip Pro

and learning difficulties. Epilepsy and brain and renal tumors are treated with aggressive therapeutic and surgical approaches. We report the case of a 13-year old girl, presenting with a 1-year history of acne resistant to therapy. Clinical examination showed symmetric grouped red papules with smooth surface on the central face and the chin (A). The objective clinical examination also showed frontal fibrous plaques (A), achromic macules on the upper limbs and grayish tumors in the periungual folds

2018 The Pan African medical journal

199. A cross-sectional study of sweat-induced dermatitis during a South Indian summer: a glimpse of sweat gland-mediated cutaneous inflammation. Full Text available with Trip Pro

dermatitis" presenting with dry, hyperpigmented, fissured "parchment"-like skin, shiny "crinkled cellophane paper"-like skin, or asymptomatic hyperpigmented macules was seen. Other atypical presentations included miliaria pustulosa with "hypopyon sign" and "linear and parallel ridge pattern" of dermatitis in patients with miliaria rubra affecting the lower neck and upper chest.A wide spectrum of sweat-induced dermatitis was seen during the summer months in a tropical region. It reflects the role

2018 International Journal of Dermatology

200. Epidemiology of Kaposi sarcoma: review and description of the nonepidemic variant. (Abstract)

Epidemiology of Kaposi sarcoma: review and description of the nonepidemic variant. Kaposi sarcoma (KS) is a rare angioproliferative tumor whose etiology is associated with human herpesvirus 8 (HHV 8). KS lesions typically involve the skin or mucosal surfaces and are characterized by purplish, red-blue, or brown-black macules, papules, and nodules which are prone to bleeding and ulceration. Definitive diagnosis requires biopsy revealing characteristic angioproliferative features. There are four

2018 International Journal of Dermatology

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