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Nail Telangiectasia

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101. Arteriovenous Fistulas (Overview)

of first year of life and is characterized by decreased tempo of the tumor growth, with the gradual color fading from the center of the mass and less tense consistency. Transition to the involuted phase occurs during the second half of the first decade of life. Normal skin is restored in half of patients, and persistent skin changes such as telangiectasias, skin thinning and may occur. Other congenital tumors include tufted angioma, congenital hemangioma, and kaposiform hemangioepithelioma (...) syndromes. These malformations are frequently associated with dilated capillary vessels in the dermis, asymmetric overgrowth of the involved limbs, and sometimes multiple soft tissue tumors, abnormal development of venous and arterial systems, and the presence of port-wine stains (see the image below). Buttock port-wine stain. Lymphatic malformations Lymphatic malformations are usually related to genomic mutations and include , Meige syndrome, yellow-nail syndrome, and . They are usually characterized

2014 eMedicine Surgery

102. Vascular Occlusive Syndromes of the Upper Extremity (Follow-up)

with variable efficacy. [ ] Embolism to distal vessels results in acute pain and pallor in previously noncompromised tissue. Patients present with the classic bluish finger and demonstrate petechiae of the digital tip and nail beds. As many as 70% of upper-extremity emboli arise from the heart, but the subclavian artery (as part of thoracic outlet syndrome) and superficial palmar arch also are common sources. Cardiac sources produce mural thrombi that develop in the setting of atrial fibrillation (...) . Patients report dysesthesia of involved digits. Diagnosis of Raynaud disease is made on the basis of demonstration of triphasic color change of the overlying digit skin. In contrast to Raynaud disease, Raynaud phenomenon presents concurrently with , in which tissue necrosis results from spastic and occlusive disease. CREST syndrome refers to disease processes involving symptoms of generalized calcinosis, Raynaud phenomenon, esophageal dysfunction, scleroderma, and telangiectasia. Symptoms specific

2014 eMedicine Surgery

103. Vascular Occlusive Syndromes of the Upper Extremity (Treatment)

with variable efficacy. [ ] Embolism to distal vessels results in acute pain and pallor in previously noncompromised tissue. Patients present with the classic bluish finger and demonstrate petechiae of the digital tip and nail beds. As many as 70% of upper-extremity emboli arise from the heart, but the subclavian artery (as part of thoracic outlet syndrome) and superficial palmar arch also are common sources. Cardiac sources produce mural thrombi that develop in the setting of atrial fibrillation (...) . Patients report dysesthesia of involved digits. Diagnosis of Raynaud disease is made on the basis of demonstration of triphasic color change of the overlying digit skin. In contrast to Raynaud disease, Raynaud phenomenon presents concurrently with , in which tissue necrosis results from spastic and occlusive disease. CREST syndrome refers to disease processes involving symptoms of generalized calcinosis, Raynaud phenomenon, esophageal dysfunction, scleroderma, and telangiectasia. Symptoms specific

2014 eMedicine Surgery

104. B-Cell and T-Cell Combined Disorders (Diagnosis)

poor antibody responses to polysaccharide antigens but elevated levels of serum immunoglobulin A (IgA) and immunoglobulin E (IgE) with low levels of immunoglobulin M (IgM). See . Two autosomal recessive syndromes involving DNA repair indicate some interaction between the immune system and neurologic function. Ataxia-telangiectasia (AT) is a rare, autosomal recessive, neurodegenerative disorder in which the diagnosis is obvious when both ataxia and telangiectasia are present. Multisystemic (...) manifestations of AT include motor impairments secondary to a neurodegenerative process, oculocutaneous telangiectasia, sinopulmonary infections, hypersensitivity to ionizing radiation, and a combined immunodeficiency that can be quite variable. This is discussed in additional detail in this article. Nijmegen breakage syndrome (NBS) is also an autosomal recessive chromosomal instability syndrome. NBS is characterized by microcephaly with growth retardation, normal or impaired intelligence, birdlike facies

2014 eMedicine Pediatrics

105. White Blood Cell Function (Overview)

) Lymphohi-stiocytic syndrome Fever, pancytopenia, coagulopathy, hemophagocytosis, and hepatosplenomegaly, CNS involvement Increased interferon-g and TNF-a, hypofibrino-genemia, and hypertrigly-ceridemia, hyperferritinemia Autosomal recessive FHL2 associated with perforin deficiency at 10q22; FHL1 associated with 9q21; FHL3 associated with Munc 13-4 at 17q25, FHL4 6q24 Ataxia telangiectasia Syndrome that includes combined immuno-deficiency Progressive ataxia, oculocutaneous telangiectasias, and recurrent

2014 eMedicine Pediatrics

106. Epistaxis (Follow-up)

Hemorrhagic Telangiectasia Management of hereditary hemorrhagic telangiectasia (HHT) is palliative because the underlying defect is not curable. Options include coagulation with potassium-titanyl-phosphate (KTP) or neodymium:yttrium-aluminum-garnet (Nd:YAG) lasers, septodermoplasty, embolization, and estrogen therapy. [ ] A study by Wirsching et al indicated that in patients with HHT, supplementing Nd:YAG laser therapy with temporary nasal occlusion with hypoallergenic tape can reduce the Epistaxis (...) activities - Protection from direct trauma from some sports activities is afforded by the use of helmets or face pieces. Hot and dry environments – The effects of such environments can be mitigated by using humidifiers, better thermostatic control, saline spray, and antibiotic ointment on the Kiesselbach area. Hot and spicy foods Digital trauma – In children, nose picking is difficult to deter and should probably be considered inevitable. Keeping the child’s nails well trimmed may be helpful. Nose

2014 eMedicine Pediatrics

107. White Blood Cell Function (Diagnosis)

) Lymphohi-stiocytic syndrome Fever, pancytopenia, coagulopathy, hemophagocytosis, and hepatosplenomegaly, CNS involvement Increased interferon-g and TNF-a, hypofibrino-genemia, and hypertrigly-ceridemia, hyperferritinemia Autosomal recessive FHL2 associated with perforin deficiency at 10q22; FHL1 associated with 9q21; FHL3 associated with Munc 13-4 at 17q25, FHL4 6q24 Ataxia telangiectasia Syndrome that includes combined immuno-deficiency Progressive ataxia, oculocutaneous telangiectasias, and recurrent

2014 eMedicine Pediatrics

108. Melanoma and pigmented lesions

rule. Urgent referral (within 2 weeks) to a specialist with experience of melanoma diagnosis is required for: Lesions suggestive of malignant melanoma (including nodular and amelanotic melanoma). Lesions which score 3 points or more (based on major features scoring 2 points each and minor features scoring 1 point each) on the 7-point checklist. However, any one feature can be adequate to prompt urgent referral. New nodules, which are pigmented, or vascular in appearance. Nail changes, such as a new (...) pigmented line in the nail or something growing under the nail. Any doubt about the diagnosis of the lesion. Skin conditions which are persistent or slowly evolving and unresponsive to treatment, with an uncertain diagnosis and melanoma is a possibility. Biopsy confirmed diagnosis of malignant melanoma. Excision of suspected melanoma in primary care should be avoided. Have I got the right topic? Have I got the right topic? From age 1 month onwards. This CKS topic covers the assessment of lesions which

2011 NICE Clinical Knowledge Summaries

109. Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome. (PubMed)

Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome. ATR (ataxia telangiectasia and Rad3 related) is an essential regulator of genome integrity. It controls and coordinates DNA-replication origin firing, replication-fork stability, cell-cycle checkpoints, and DNA repair. Previously, autosomal-recessive loss-of-function mutations in ATR have been demonstrated in Seckel syndrome, a developmental disorder. Here, however, we report on a different kind of genetic disorder (...) that is due to functionally compromised ATR activity, which translates into an autosomal-dominant inherited disease. The condition affects 24 individuals in a five-generation pedigree and comprises oropharyngeal cancer, skin telangiectases, and mild developmental anomalies of the hair, teeth, and nails. We mapped the disorder to a ∼16.8 cM interval in chromosomal region 3q22-24, and by sequencing candidate genes, we found that ATR contained a heterozygous missense mutation (c.6431A>G [p.Gln2144Arg

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2012 American Journal of Human Genetics

110. Skin Conditions of Pregnancy

Skin Conditions of Pregnancy Aka: Skin Conditions of Pregnancy , Pregnancy Related Rash , Dermatitis in Pregnancy , Dermatoses of Pregnancy II. Causes: Pregnancy Specific See (e.g. ) Pruritic of pregnancy III. Causes: Pregnancy-Related Pruritic Conditions See Common Prurigo of Pregnancy Uncommon or Pruritic of Pregnancy IV. Causes: Exacerbated by Pregnancy Nail changes (e.g. , brittle nails, grooves) Telangiectasias s (regress after pregnancy) V. References Images: Related links to external sites

2015 FP Notebook

111. Approach to the Patient With Suspected Immunodeficiency

immunization Severe progressive infectious mononucleosis Persistent oral candidiasis, nail dystrophy, endocrine disorders (eg, hypoparathyroidism, Addison disease) > 5 yr (including adults) Ataxia, recurrent sinopulmonary infections, neurologic deterioration, telangiectasias Recurrent Neisseria meningitis C5, C6, C7, or C8 deficiency Recurrent sinopulmonary infections, malabsorption, splenomegaly, autoimmune disorders, nodular lymphoid hyperplasia of the GI tract, giardiasis, lymphoid interstitial (...) Family history of childhood death or of infections in a maternal uncle that are similar to those in the patient X-linked disorders (eg, , , , ) BCG = bacille Calmette-Guérin; C = complement; Ig = immunoglobulin; IRAK = IL-1R-associated kinase; SLE = systemic lupus erythematosus. Physical examination Patients with immunodeficiency may or may not appear chronically ill. Macular rashes, vesicles, pyoderma, eczema, petechiae, alopecia, or telangiectasia may be evident. Cervical lymph nodes and adenoid

2013 Merck Manual (19th Edition)

112. Cirrhosis

enlargement, white nails, clubbing, Dupuytren contracture, spider angiomas ( < 10 may be normal), gynecomastia, axillary hair loss, testicular atrophy, and peripheral neuropathy. Once any complication of cirrhosis develops, additional decompensation is much more likely. Table Common Symptoms and Signs Due to Complications of Cirrhosis Symptom or Sign Possible Cause Abdominal distention Abdominal discomfort with fever or hepatic encephalopathy (infrequently with peritoneal signs) Calf pain or swelling (...) of cirrhosis requires key clinical information from the history and examination, as well as selective testing. Alcohol is the likely cause in patients with a documented history of alcoholism and clinical findings such as gynecomastia, spider angiomas (telangiectasia), and testicular atrophy plus laboratory confirmation of liver damage (AST elevated more than ALT) and liver enzyme induction (a greatly increased GGT). Fever, tender hepatomegaly, and jaundice suggest the presence of . Detecting hepatitis B

2013 Merck Manual (19th Edition)

113. Overview of GI Bleeding

, especially of the mucous membranes, suggest (Rendu-Osler-Weber syndrome). Cutaneous nail bed and GI telangiectasia may indicate or . Testing Several tests are done to help confirm the suspected diagnosis. CBC, coagulation profile, and often other laboratory studies NGT for all but those with minimal rectal bleeding Upper endoscopy for suspected upper GI bleeding Colonoscopy for lower GI bleeding (unless clearly caused by hemorrhoids) CBC should be obtained in patients with large-volume or occult blood

2013 Merck Manual (19th Edition)

114. Iron Deficiency Anemia

), which is an unpleasant urge to move the legs during periods of inactivity. Koilonychia DR P. MARAZZI/SCIENCE PHOTO LIBRARY In addition to the usual manifestations of anemia, some uncommon symptoms occur in severe iron deficiency. Patients may have pica, an abnormal craving to eat substances (eg, ice, dirt, paint). Other symptoms of severe deficiency include glossitis, cheilosis, and concave nails (koilonychia). Diagnosis CBC, serum iron, iron-binding capacity, serum ferritin, transferrin saturation (...) molecular weight iron dextran, which is no longer available. Parenteral iron is reserved for patients who do not tolerate or who will not take oral iron or for patients who steadily lose large amounts of blood because of capillary or vascular disorders (eg, hereditary hemorrhagic telangiectasia). The dose of parenteral iron is determined by a hematologist. Oral or parenteral iron therapy should continue for ≥ 6 mo after correction of hemoglobin levels to replenish tissue stores. The response

2013 Merck Manual (19th Edition)

115. Systemic Sclerosis

hands Fingertip lesions (eg, ulcers, pitting scars) Telangiectasia Abnormal nail fold capillaries (eg, ectatic blood vessels, dropouts) Pulmonary arterial hypertension and/or interstitial lung disease Raynaud phenomenon SSc-related autoantibodies (anticentromere, anti–Scl-70, anti–RNA polymerase III) These criteria are weighted, in some cases according to subcriteria, and added to generate a score. Scores above a certain threshold are classified as definite SSc. If lung involvement is suspected (...) among people aged 20 to 50 and is rare in children. Classification SSc is classified as Limited SSc (CREST syndrome) Generalized SSc (with diffuse skin involvement) SSc sine scleroderma In limited SSc (CREST syndrome—calcinosis cutis, , , sclerodactyly, telangiectasias), patients develop skin tightening over the face and distal to the elbows and knees and may also have gastroesophageal reflux disease. This type is characterized by slow progression and is often complicated by pulmonary hypertension

2013 Merck Manual (19th Edition)

116. Systemic Lupus Erythematosus (SLE)

or profundus). Vasculitic skin lesions may include mottled erythema on the palms and fingers, periungual erythema, nail-fold infarcts, urticaria, and palpable purpura. Petechiae may develop secondary to thrombocytopenia. Photosensitivity occurs in some patients. Lupus erythematosus tumidus is characterized by pink to violaceous urticarial nonscarring plaques and/or nodules, some annular, in light-exposed areas. Systemic Lupus Erythematosus (Malar Rash) © Springer Science+Business Media Chilblain lupus (...) , maculopapular lupus rash, photosensitive lupus rash (in the absence of dermatomyositis) or Subacute cutaneous lupus (nonindurated psoriaform and/or annular polycyclic lesions that resolve without scarring, sometimes with postinflammatory dyspigmentation or telangiectasias) Chronic cutaneous lupus Classic discoid rash, localized (above the neck) discoid rash, generalized (above and below the neck) discoid rash, hypertrophic (verrucous) lupus, lupus panniculitis (profundus), mucosal lupus, lupus erythematosus

2013 Merck Manual (19th Edition)

117. Overview of Lysosomal Storage Disorders

posturing, neuraxonal dystrophy Treatment: Supportive care Type II (Kanzaki disease, adult-onset form; 609242) Onset: Adulthood Urine metabolites: Oligosaccharides and O-linked sialopeptides Clinical features: Coarse facies, deafness, conjunctival and retinal vascular tortuosity, angiokeratoma corporis diffusum, telangiectasia, lymphedema, mild intellectual impairment, peripheral axonal neuropathy Treatment: Supportive care Type III (intermediate form; 609241) Onset: Childhood Urine metabolites (...) , osteosclerosis, susceptibility to fracture, scoliosis, spondylolysis, brachydactyly, grooved nails Treatment: Supportive care, growth hormone possibly helpful Glutamyl ribose-5-phosphate storage disease (305920) ADP-ribose protein hydrolase Onset: 1st yr Urine metabolites: Proteinuria Clinical features: Coarse facies, hypotonia, muscle wasting and atrophy, loss of speech and vision, seizures, neurologic deterioration, optic atrophy, nephrosis, hypertension, renal failure, developmental disabilities Treatment

2013 Merck Manual (19th Edition)

118. DNA repair

for even if they carry a corresponding disadvantage late in life. Medicine and DNA repair modulation [ ] Main article: Hereditary DNA repair disorders [ ] Defects in the NER mechanism are responsible for several genetic disorders, including: : hypersensitivity to sunlight/UV, resulting in increased skin cancer incidence and premature aging : hypersensitivity to UV and chemical agents : sensitive skin, brittle hair and nails Mental retardation often accompanies the latter two disorders, suggesting (...) response genes in the evolution of the tumor, leads to downregulation and/or loss of some DNA damage response mechanisms, and hence loss of DNA repair and/or senescence/programmed cell death. In experimental mouse models, loss of DNA damage response-mediated cell senescence was observed after using a (shRNA) to inhibit the double-strand break response kinase ataxia telangiectasia ( ), leading to increased tumor size and invasiveness. Humans born with inherited defects in DNA repair mechanisms

2012 Wikipedia

119. List of cutaneous conditions

sponge nevus of Cannon) Conditions of the skin appendages [ ] See also: Conditions of the are those affecting the glands of the skin, , , and muscles. (acquired hypertrichosis lanuginosa, hypertrichosis lanuginosa acquisita) (acquired perforating collagenosis) (acrokeratosis neoplastica, Bazex syndrome) (androgenetic alopecia) (hypohidrosis) (apocrine bromhidrosis, fetid sweat, malodorous sweating, osmidrosis) (follicular degeneration syndrome, pseudopelade of the central scalp) (herringbone nail (...) ) (colored sweat) (drumstick fingers, Hippocratic fingers, watch-glass nails) (erosive pustular dermatosis of the scalp) (congenital hypertrichosis lanuginosa) (pseudonits) (vellus hamartoma) (Lindsay's nails) (hairy elbow syndrome) (acquired progressive kinking) (Koenen's periungual fibroma, periungual fibroma) (spoon nails) (white nails) (acuminatus, follicular lichen planus, lichen planus follicularis, peripilaris) (keratosis spinulosa) (lipedematous scalp) (loose anagen hair syndrome) (Marie–Unna

2012 Wikipedia

120. Diagnosis and Classification of Systemic Sclerosis. (PubMed)

). The calcifications, Raynaud's phenomenon, esophageal hypomotility, sclerodactyly, and telangiectasia (CREST) syndrome can be considered an lcSSc. In 2001, LeRoy and Medsger, realizing the shortcomings of the 1988 subsets in being too exclusive and taking advantage of increased experience with nail fold capillaroscopy and autoantibody determination, proposed criteria for an additional early or limited subset of SSc (lSSc), to supplement the previously recognized lcSSc and dcSSc forms. Patients with lSSc must have (...) % to 20% of the patients did not meet these criteria. In 1988, an international consensus was reached resulting in the proposal of a new and more practical classification based on the judgment and clinical practice of an expert panel. This classification introduced the SSc nail fold capillaroscopy abnormalities (dilation and/or avascular areas) and specific antinuclear antibodies. Two subsets of SSc emerged from discussions: diffuse cutaneous SSc (dcSSc) and limited cutaneous SSc (lcSSc

2010 Clinical Reviews in Allergy & Immunology

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