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133 results for

Nail Telangiectasia

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121. Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2. (PubMed)

Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2. Primary lymphoedema is a genetic disorder with numerous phenotypic subgroups. The most common form is the non-syndromic Meige disease, which is primarily of pubertal or later onset, with oedema clinically indistinguishable from that found in the lymphoedema-distichiasis syndrome. There are also other very rare forms of lymphoedema such as yellow nail syndrome and lymphoedema with ptosis, which are clinically (...) similar to Meige disease. The only causative genes so far identified for the non-congenital primary lymphoedemas are the transcription factor FOXC2, where mutations are known to produce lymphoedema with distichiasis, and SOX18 in the very rare condition hypotrichosis-lymphoedema-telangiectasia. This study has examined FOXC2 gene by sequence analysis in 23 affected individuals with Meige disease. A novel truncating mutation (c.563-584del) was identified in one family and found to segregate

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2008 European Journal of Human Genetics

122. Skin Manifestations of Systemic Disease

or purple edges, atrophic centres and surface telangiectasias. Liver disease The cutaneous manifestations characteristically include: is known to be linked to . [ ] Human immunodeficiency virus/acquired immunodeficiency syndrome A variety of skin conditions can occur in human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (AIDS). [ ] Dermatitis The appearance can resemble , Reiter's disease or and has been termed 'psoriasiform dermatitis of AIDS'. [ ] Infections Bacillary angiomatosis (...) nigricans and psoriasis. [ ] Skin creases in the head area are deeper than normal (cutis verticis gyrata or 'Klingon head'). [ ] Hypopituitarism [ ] In the skin is dry, scaly and puffy and the nails become brittle. The hair is coarse and sparse, especially in the axillae. Fine wrinkles around the eyes and mouth are typical. Hypothyroidism [ ] In the skin in myxoedema is cool to the touch, doughy, dry and puffy and there may be hair loss. Peri-orbital oedema may be accompanied by a yellowish colour

2008 Mentor

123. Turner's Syndrome

and mandible abnormalities can result in crowding of teeth and malocclusion. Neck - short, webbed; low hairline. Chest - broad chest, pectus excavatum, inverted, hypoplastic, widely-spaced nipples. Joints - cubitus valgus, congenital hip dislocation. Hands - short 4th/5th metacarpals, short fingers, forearm and carpal developmental abnormalities; nail hypoplasia, hyperconvex nails, nail-fold oedema. Skin lymphoedema - hands, feet, neck (pterygium coli), pigmented naevi, telangiectasias, vitiligo, keloid (...) , seborrhoeic dermatitis; increased body hair with alopecia. There is a risk of keloid formation with surgery. Cardiovascular problems Coarctation of the aorta. Bicuspid aortic valve; aortic stenosis. Aortic aneurysms. Mitral valve prolapse. Ectopia cordis. Hypoplastic left heart. Pulmonary stenosis. Vascular malformations (including generalised vascular dysplasia, intestinal telangiectasias, haemangiomas, venous ectasias, lymphangiectasia, cystic hygroma and multiple renal arteries). Conduction defects

2008 Mentor

124. Toxic Epidermal Necrolysis

such as: [ ] or watery eyes (the most common - 46% of cases). . . Symblepharon. and . Trichiasis. Synechiae. Joint contractures. Loss of nails. Stomatitis and mucositis. Gastrointestinal haemorrhage. and . Gynaecological and obstetric complications - premature labour, long-term painful genitourinary lesions, vaginal stenosis, adenosis and telangiectasias. [ ] or ; there may be scarring if infection has developed. Prognosis Mortality risk increases with the surface area involved, and is between 16-55%. [ ] It also

2008 Mentor

125. Cirrhosis

secondary to pruritus. Spider angiomata/naevi (mainly found on the trunk and face). Skin telangiectasias (called 'paper money skin'). Palmar erythema. Bruising. Petechiae or purpura. Hair loss. White nails (horizontal white bands or a proximal white nail plate; sign of hypoalbuminaemia). Finger clubbing. Dupuytren's contracture. Other signs include: Hepatomegaly and a nodular liver. Oedema. Gynaecomastia and male hair loss pattern. Hypogonadism/testicular atrophy/amenorrhoea (due to the direct toxic

2008 Mentor

126. Dermatological Descriptive Terms

and groins. Pilosebaceous structures containing hair and sebaceous glands. Nails. Dermis The dermis is composed of connective tissue that supports the epidermis, providing nutrients and protection. The papillary dermis is the upper portion beneath the epidermis and the lower portion is the reticular dermis. Collagen is protein fibres arranged in bundles to give strength to the skin. Elastin is a protein that allows the skin to stretch. Ground substance is gel containing hyaluronic acid and other (...) can also be a thickened area without being visibly raised above the skin surface. They may have well-defined or ill-defined borders. Plaques may be: Annular - ring-shaped. Arcuate - like a half-moon. Polygonal - have varied non-geometrical shapes. Polymorphic - being of varied shape. Serpiginous - in the shape of a snake or serpent. Poikilodermatous - have a variegated appearance, usually mixed pallor, telangiectasia and pigmentation. Vesicles are small fluid-filled blisters less than 0.5 cm

2008 Mentor

127. Iron-Deficiency Anaemia (IDA)

the spoon-shaped nail of koilonychia with the longitudinal ridges . Other signs that may be seen include: Stigmata of chronic liver disease, perhaps cirrhosis. Multiple telangiectasias, which may be a feature of hereditary haemorrhagic telangiectasia, also known as . Pigmentation of the lips and oral mucosa, which may suggest Peutz-Jeghers syndrome. Confirming the diagnosis IDA can be diagnosed in most cases by FBC and serum ferritin level. [ ] FBC: shows a hypochromic microcytic anaemia (although (...) to the tropics. Family history, including inherited haematological disorders such as thalassaemia; bleeding disorders and telangiectasia; IDA, as may indicate a potential inherited disorder of iron absorption. Examination Examine the abdomen for abdominal masses, organomegaly, lymphadenopathy and any other features of intra-abdominal disease. Rectal examination is seldom helpful unless there is rectal bleeding or tenesmus. Postpone until colonoscopy. If menorrhagia is thought to be the cause: perform

2008 Mentor

128. Leg Ulcers

the ulcer. Hyperpigmentation is due to haemosiderin deposition or iron pigments in the skin. Lipodermatosclerosis is dermatitis followed by induration and dermal fibrosis. There may be atrophie blanche (smooth, ivory-white plaques stippled with telangiectasias and surrounded by hyperpigmentation). Patients often complain of mild pain that is relieved by elevation. Oedema of the lower leg is common. Arterial ulcers These are often more distal and on the dorsum of the foot or toes. Initially they have (...) irregular edges but this may become more clearly defined. The ulcer base contains greyish, granulation tissue. Handling, such as debriding these ulcers, produces little or no blood. Nocturnal pain is typical. It is worse when supine and is relieved by dangling the legs out of bed. There are often features of chronic ischaemia, such as hairlessness, pale skin, absent pulses, nail dystrophy and wasting of calf muscles. Neuropathic ulcers [ ] They have a punched-out appearance with a deep sinus

2008 Mentor

129. Dyskeratosis congenita

of information on the Orphanet website are accepted. For all other comments, please send your remarks via . Only comments written in English can be processed. Check this box if you wish to receive a copy of your message * " for="captcha" >Please reproduce the text below: * Dyskeratosis congenita Disease definition A rare ectodermal dysplasia syndrome that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (...) a wide phenotypic spectrum and age onset. It classically manifests during childhood with the triad of dysplastic nails, lacy reticular pigmentation and atrophy of the skin at the level of the neck and upper chest, and oral leukoplakia. Patients are at high risk of progressive BMF and may develop myelodysplastic syndrome or acute myelogenous leukemia at any age (the risk increasing with age). There is also an increased risk for solid tumors, typically squamous cell carcinoma of head and neck

2005 Orphanet

130. Is it appropriate to screen new diagnoses of Raynauds phenomenon for connective tissue disease, and if so, which tests would be most useful?

care investigations may include further serological testing, nail fold capillary microscopy, and cold challenge with finger plethysmography or finger blood pressure measurement” A further section “Should I refer or investigate?” states: “Consider referring people with suspected secondary Raynaud's phenomenon, for example: - Male sex - Onset after 40 years of age - Abrupt onset with rapid progression - Unilateral involvement - Trophic changes such as digital scarring or ulceration - Symptoms (...) or signs of connective tissue disease (e.g. arthritis or arthralgia, skin rashes or photosensitivity, dry eyes or mouth, muscle weakness or pain, swallowing difficulties, breathlessness, mouth ulcers, alopecia, altered skin texture, calcinosis, or telangiectasia) - Abnormal investigations - raised erythrocyte sedimentation rate (ESR), abnormal auto-antibody screen” Reference 1) PRODIGY. Raynaud's phenomenon. 2002 ( ) Answered 20 April 2006 Follow us: © 2019 Trip Database Ltd. company number 04316414

2006 TRIP Answers

131. Cerebroretinal microangiopathy with calcifications and cysts. (PubMed)

Cerebroretinal microangiopathy with calcifications and cysts. Extensive cerebral calcifications and leukoencephalopathy have been reported in two rare disorders Coats plus and leukoencephalopathy with calcifications and cysts. In the latter, a progressive formation of parenchymal brain cysts is a special feature, whereas Coats plus is characterized by intrauterine growth retardation, bilateral retinal telangiectasias and exudations (Coats disease), sparse hair, and dysplastic nails without cyst (...) intracerebral calcifications involved deep gray nuclei, brainstem, cerebral and cerebellar white matter, and dentate nuclei and were accompanied by diffuse white matter signal changes and, in five patients, cerebral cysts. Eleven patients had retinal telangiectasias or angiomas. Additional features were skeletal and hematologic abnormalities, intestinal bleeding, and poor growth. Neuropathologic examination showed extensive calcinosis and abnormal small vessels with thickened, hyalinized wall and reduced

2006 Neurology

132. Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3-Xq12. (PubMed)

Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3-Xq12. We report on a four-generation family with localized subepidermal telangiectasias following Blaschko's lines (angioma serpiginosum). The vascular streaks are present at birth and progress slowly thereafter. In several family members papillomatosis of the entire oesophagus was found to be part of the condition. Mild nail and hair dystrophy added to the resemblance of Goltz-Gorlin

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2007 European Journal of Human Genetics

133. Late-onset Rothmund-Thomson syndrome. (PubMed)

of age. She had menarche at the age of 14 years and her menstrual cycle was regular. There was no history of similar illness in the family. On cutaneous examination, the skin on the face, neck, trunk, buttocks, and limbs was found to be dry, lusterless, thin, and covered with fine scales. Mottled hyperpigmentation was observed all over the body. Atrophy and telangiectasia were seen over the neck (Fig. 1), face (Fig. 2), nape of the neck, upper and lower limbs, back, and chest. Mild erythema (...) was observed over the face, nose, ears, and forearms. The hair on the scalp, eyebrows, axillae, and pubic area was sparse and thin. The teeth were loose and discolored due to caries, and a foul odor emanated from the mouth. The nails were lusterless and centrally depressed. The thyroid gland was enlarged, smooth, nontender, and moved with deglutition. No bruit was heard over it. No ocular abnormality was detected. The patient had a haemoglobin level of 7.6 g%, total serum iron binding capacity of 70

2007 International Journal of Dermatology

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