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Nail Telangiectasia

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101. White Blood Cell Function (Treatment)

) 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

102. 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

103. 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

104. White Blood Cell Function (Follow-up)

) 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

105. 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

106. B-Cell and T-Cell Combined Disorders (Overview)

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

107. Colorectal Tumors (Diagnosis)

pigmentation of lips, oral mucosa, and perioral region Cronkhite-Canada syndrome - GI polyposis, skin hyperpigmentation, alopecia, and nail changes Osler-Weber-Rendu syndrome - Juvenile polyps and hepatic telangiectasia Oldfield syndrome - Polyposis and multiple sebaceous cysts Bloom syndrome - Growth retardation, accelerated aging, immune deficiency, and malignant tumors Cowden syndrome - Hamartomas, GI polyps, breast, thyroid, and GI cancer Ruvalcaba-Myhre-Smith syndrome - Microcephaly and juvenile (...) in which the GI polyps are associated with skin hyperpigmentation, alopecia, and nail changes (Cronkhite, 1955). Hair loss, and skin and nail changes may be evident long before GI symptoms appear. The hamartomatous polyps appear in the stomach and colon. Chronic diarrhea results in malabsorption, hypovitaminosis, hypoproteinemia, and fluid and electrolyte imbalance. Because patients with Cronkhite-Canada syndrome may develop colonic malignancy, close follow-up is recommended (see Syndromes associated

2014 eMedicine Pediatrics

108. 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

109. 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

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. Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome. Full Text available with Trip Pro

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

2012 American Journal of Human Genetics

112. Test your medicine knowledge: 27-year-old woman with an intensely pruritic rash

and allergens. Cosmetics, including nail products, shampoo, and fragrances, frequently result in an allergy on the eyelids, even when not directly applied to that location, because of the thin eyelid skin. This patient has mild allergic contact dermatitis; she should avoid the trigger, and topical glucocorticoids will relieve her symptoms. The other three medications are all very potent topical glucocorticoids. The potencies of topical glucocorticoids in the United States are designated by classification (...) into one of seven groups, with group 7 (1% and 2.5% hydrocortisone) being the least potent and group 1 being the most potent (up to 600 times more potent than the group 7 agents). Higher-potency glucocorticoids can rapidly lead to adverse effects, including lightening of the skin, atrophy, and telangiectasias, when used on areas of thin skin such as the eyelids. In addition, patients are at risk of ocular exposure and eventual cataract formation if chronically exposed. Therefore, treatment of facial

2015 KevinMD blog

113. 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)

114. 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)

115. 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)

116. 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)

117. 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)

118. 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)

119. 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)

120. 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

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