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Cafe-Au-Lait Macule

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21. Guidelines for the Management of Genital Herpes in New Zealand

. The area may be oedematous and can be extremely tender. Pain on urination is typical, particularly in women and spontaneous urination may be impossible. The ulcers dry to form crusts and later heal, leaving a transient red macule with minimal scarring (if any). Less commonly, lesions can pass through the blister phase quickly and blisters may not be noticed. Involvement of the cervix occurs but speculum examination may not be possible. Lesions may also appear extra-genitally, commonly on thighs (...) often caused by infections and sometimes drugs. Many cases have no obvious precipitating cause. It develops 3–14 days following HSV infection. Mild forms of this condition are common and start and present as macules, papules and urticarial lesions which reach up to 3cm on extremities. They especially affect the hands and feet, dorsum of elbows and knees, and less often the trunk. Some lesions develop into the classical “target” lesion with three colour zones: central dusky erythema, surrounded

2017 New Zealand Sexual Health Society

22. Diagnosis of Idiopathic Pulmonary Fibrosis

pneumonitis (e.g., bronchiolocentric distribution with lymphocyte-rich bronchiolitis, extensive peribronchiolar metaplasia, poorly formed nonnecrotizing granulomas in peribronchiolar interstitium), acute exacerbation of IPF or acute interstitial pneumonia (i.e., hyaline membranes), cicatricialvariantsofcryptogenicorganizing pneumonia with ?brosis (prominent organizing pneumonia), pneumoconiosis (e.g., asbestos bodies, prominent dust macules and/or silicotic nodules), sarcoidosis (prominent well-formed

2018 American Thoracic Society

23. Care of Adults with Neurofibromatosis Type 1

evaluation because of clinical signs (e.g., café- au-lait macules); 5) diagnostic evaluation after detection of an NF1 variant of uncertain significance from ahereditary cancer predisposition gene panel. METHODS At the request of the American College of Medical Genetics and Genomics (ACMG) Professional Practice and Guidelines (PP&G) committee, a work group of experts was convened in July 2015 to develop a Clinical Practice Resource for the clinical care of adults with NF1. Work-group members were

2018 American College of Medical Genetics and Genomics

25. Lymphangioleiomyomatosis Diagnosis and Management Part II: An Official ATS/JRS Clinical Practice Guideline

the diagnosis of TSC. Features suggestive of TSC include the presence of any of the following: subungual ?bromas, facial angio?bromas, hypomelanotic macules, confetti lesions, Shagreen patches, positive family history of TSC, history of seizures or cognitive impairment, or presence of cortical dysplasias, subependymal nodules, and/or subependymal giant cell astrocytomas on brain imaging. Routine brain imaging is not indicated if clinical suspicion for TSC is low. Detailed diagnostic criteria for TSC

2017 American Thoracic Society

28. Public health guidance on varicella vaccination in the European Union

adulthood. Infection from primary varicella usually confers lifetime immunity. The life-time risk of developing HZ was calculated to be 28% for England and Wales [30]. It is more usual in immunocompromised patients and patients over 50 years, and is unusual in children [31]. Varicella is characterised by fever and a generalised, pruritic, vesicular rash, typically consisting of 200 to 500 lesions in varying stages of development and resolution. The rash progresses rapidly from macules to papules

2015 European Centre for Disease Prevention and Control - Public Health Guidance

29. Hepatic Lesions Associated with McCune Albright Syndrome. (PubMed)

Hepatic Lesions Associated with McCune Albright Syndrome. McCune Albright Syndrome (MAS) results from a GNAS gene mutation. It is associated with café-au-lait macules, fibrous dysplasia, and several endocrinopathies to include gonadotropin-independent precocious puberty, growth hormone excess, Cushing syndrome, thyroid disease, and renal phosphate wasting. It is recognised to be a rare cause of neonatal cholestasis.We describe the hepatic outcome of three children with MAS referred to a single

2019 Journal of Pediatric Gastroenterology and Nutrition

30. Café noir spots: A Feature of Familial Progressive Hyper- and Hypopigmentation. (PubMed)

Café noir spots: A Feature of Familial Progressive Hyper- and Hypopigmentation. Familial progressive hyper- and hypopigmentation (FPHH) is a rare genodermatosis characterized by multiple café au lait spots and hypopigmented ash-leaf macules intermingled with blotchy hyperpigmentation (1,2). Herein, we describe a Turkish FPHH patient with café-noir spots. A 16-year-old male presented to our Pediatric Dermatology Clinic, with extensive hyperpigmentation, irregular brown patches, and hypopigmented

2019 Journal of the European Academy of Dermatology and Venereology

31. Routine newborn assessment

just above the natal cleft (less than 2.5 cm from anus and less than 5 mm wide) • Single café-au-lait spot • Single ash leaf macule • Third fontanelle • Capillary haemangioma apart from those described in table above • Accessory nipples 3.2 Consultation and follow-up Clinical judgement is required to determine the appropriate urgency of follow-up in the context of abnormal or suspicious findings arising from a newborn assessment. If there is uncertainty about the urgency of follow-up in relation (...) on the appropriate centile charts: o Weight o Length o Head circumference • Excessive weight loss ? Bilious vomiting Skin • Colour • Trauma • Congenital or subcutaneous skin lesions • Oedema ? Any jaundice at less than 24 hours of age ? Central cyanosis • Petechia not fitting with mode of birth • Pallor • More than 3 café-au-lait spots in a Caucasian, more than 5 in a black African newborn • Multiple haemangioma • Haemangioma on nose or forehead (in distribution of ophthalmic division of trigeminal nerve

2014 Queensland Health

32. Routine newborn assessment

just above the natal cleft (less than 2.5 cm from anus and less than 5 mm wide) • Single café-au-lait spot • Single ash leaf macule • Third fontanelle • Capillary haemangioma apart from those described in table above • Accessory nipples 3.2 Consultation and follow-up Clinical judgement is required to determine the appropriate urgency of follow-up in the context of abnormal or suspicious findings arising from a newborn assessment. If there is uncertainty about the urgency of follow-up in relation (...) on the appropriate centile charts: o Weight o Length o Head circumference • Excessive weight loss ? Bilious vomiting Skin • Colour • Trauma • Congenital or subcutaneous skin lesions • Oedema ? Any jaundice at less than 24 hours of age ? Central cyanosis • Petechia not fitting with mode of birth • Pallor • More than 3 café-au-lait spots in a Caucasian, more than 5 in a black African newborn • Multiple haemangioma • Haemangioma on nose or forehead (in distribution of ophthalmic division of trigeminal nerve

2014 Clinical Practice Guidelines Portal

34. Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency

Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency | JMG Contact blog by Constitutional mismatch repair deficiency (CMMRD) is an autosomal recessive cancer predisposition syndrome, causing café au lait macules, brain malformations and and multiple tumors, mostly leukemia/ lymphoma, brain, and gastrointestinal cancer in the first two decades

2019 JMG Contact blog

35. Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6. (PubMed)

macules and other pigmentation alterations. We report on a 13-month-old girl suspected of having CMMRD due to a desmoplastic medulloblastoma and a striking skin pigmentation that included multiple café-au-lait macules, hypopigmented areas and Mongolian spots. Whole-exome sequencing revealed homozygosity for MSH2 variant p.(Leu92Val) and MSH6 variant p.(Val809del), both variants of uncertain significance (VUS). Immunohistochemical analysis of the tumour tissue showed expression of all four MMR proteins (...) Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6. Constitutional mismatch repair deficiency (CMMRD) is an autosomal recessively inherited childhood cancer susceptibility syndrome caused by biallelic germline mutations in one of the mismatch repair (MMR) genes. The spectrum of CMMRD-associated tumours is very broad and many CMMRD patients additionally display signposting non-neoplastic features, most frequently café-au-lait

2018 European Journal of Human Genetics

36. The endovascular management of neurofibromatosis-associated aneurysms: A systematic review.

The endovascular management of neurofibromatosis-associated aneurysms: A systematic review. Neurofibroblastoma (NF) or Von Recklinghausen disease, is an autosomal dominant disorder affecting one in 3000 individuals. Cardinal features of NF include multiple café-au-lait macules, benign neurofibromas, and iris hamartomas. Albeit less common, vascular lesions of medium and large-sized arteries and veins are a well-recognized complication, which can lead to fatal consequences such as rupture.A

2018 European journal of radiology

37. Nevus anemicus and RASopathies (PubMed)

, University Hospital Leuven, Leuven, Belgium. Department of Human Genetics, KU Leuven, Leuven, Belgium. eng Case Reports 2018 04 06 United States JAAD Case Rep 101665210 2352-5126 CALMs, café au lait macules Legius syndrome MAPK, mitogen-activated protein kinase NF1, neurofibromatosis type 1 Noonan syndrome PTPN11, protein tyrosine phosphatase nonreceptor type 11 RAF1, rapidly accelerated fibrosarcoma-1 RAS, rat sarcoma family of protooncogenes RASopathy SPRED1, sprouty-related, EVH1 domain containing

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2018 JAAD Case Reports

38. Dermoscopy in Diagnosis of Pigmentary Skin Lesions

, psoriasis, atopic and contact dermatitis, lichen planus, trauma, drugs, and fixed-drug eruptions) Melasma Solar lentigines Ephelides (freckles) Café-au-lait macules Nevi Melanoma and precursors Acquired (common) Vitiligo Pityriasis alba Tinea versicolor Postinflammatory hypopigmentation Congenital (uncommon) Albinism Piebaldism Tuberous sclerosis Hypomelanosis of Ito Several studies have shown that dermoscopy may come in very handy for assisting the noninvasive diagnosis of various general

2018 Clinical Trials

39. Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1 (PubMed)

that exhibits clinical hallmarks of NF1, including café au lait macules, neurofibromas, and optic pathway glioma. Spontaneous loss of heterozygosity is observed in this model, a phenomenon also described in NF1 patients. Oral administration of a mitogen-activated protein kinase/extracellular signal-regulated kinase inhibitor suppresses Ras signaling. To our knowledge, this model provides an unprecedented opportunity to study the complex biology and natural history of NF1 and could prove indispensable

Full Text available with Trip Pro

2018 Communications Biology

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

, 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

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