- Cold agglutinin disease complicating management of aortic dissection. [Journal Article]
- TATransfus Apher Sci 2018; 57(2):236-238
- CONCLUSIONS: This case demonstrates the efficacy of employing plasma exchange in preparation for cardiac surgery with deep hypothermic circulatory arrest in a patient with clinically significant cold agglutinin disease. Plasma exchange alone may be sufficient in preparing patients with cold agglutinin disease for procedures requiring significant hypothermia when the delayed onset of action of alternative therapies is not acceptable. Choice of replacement fluid is critical in ensuring maintenance of coagulation proteins perioperatively and minimizing complement activation.
- Persistent acrocyanosis: A rare manifestation revealing anti-pl12 syndrome. [Journal Article]
- ARArthritis Rheumatol 2018 May 06
- A 69-year-old woman with asthenia, anorexia and weight loss lasting for several weeks was referred for a subacute onset of painful permanent acrocyanosis of the four extremities without Raynaud's phe...
A 69-year-old woman with asthenia, anorexia and weight loss lasting for several weeks was referred for a subacute onset of painful permanent acrocyanosis of the four extremities without Raynaud's phenomenon. She also had concomitantly developed grade I/IV (NYHA) dyspnea. A physical examination revealed livedoid acrocyanosis of distal phalanges of the hands (Fig. 1A), which was associated with flame-shaped hemorrhages (Fig. 1B, arrow-head), dilated capillaries at the proximal nailfolds (Fig. 1B, arrow), Gottron's sign over the MCP and PIP joints and a discrete heliotrope rash with a palpable V-shaped rash of the upper chest and forehead. This article is protected by copyright. All rights reserved.
- A novel method for demonstrating cold agglutinin disease: a case report. [Journal Article]
- JMJ Med Case Rep 2018 Apr 18; 12(1):99
- CONCLUSIONS: To the best of our knowledge, this method of demonstrating cold agglutinin disease has not been described in the literature and could easily be performed utilizing an ordinary slit lamp. This method could be used as an alternative and rapid screening method for cold agglutinin disease.
- Cutaneous Manifestations of Chronic Vascular Disease. [Review]
- PCProg Cardiovasc Dis 2018 Mar - Apr; 60(6):567-579
- In the contemporary era of medical diagnosis via sophisticated radiographic imaging and/or comprehensive serological testing, a focused physical examination remains paramount in recognizing the cutan...
In the contemporary era of medical diagnosis via sophisticated radiographic imaging and/or comprehensive serological testing, a focused physical examination remains paramount in recognizing the cutaneous manifestations of chronic vascular disease. Recognition of the unique cutaneous signs of lymphatic and venous hypertension assists in the diagnosis as well as the staging and classification of both lymphedema and chronic venous insufficiency. Awareness of explicit dermatologic vasomotor manifestations aids not only in the identification of acrocyanosis, Raynaud phenomenon, pernio, and erythromelalgia but also mitigates confusion related to their clinical overlap. Although the clinical signs of peripheral artery disease are not necessarily specific or sensitive, a knowledge of suggestive dermatologic findings is helpful in recognition of severe limb ischemia. A brief review of the epidemiology, etiology, pathogenesis, and therapy of cutaneous related chronic vascular disease follows including an emphasis on characteristic clinical features supported by illustrative photographs.
- Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy. [Journal Article]
- MGMol Genet Metab 2018; 124(1):57-63
- Ethylmalonic encephalopathy (EE) is a devastating neurodegenerative disease caused by mutations in the ETHE1 gene critical for hydrogen sulfide (H2S) detoxification. Patients present in infancy with ...
Ethylmalonic encephalopathy (EE) is a devastating neurodegenerative disease caused by mutations in the ETHE1 gene critical for hydrogen sulfide (H2S) detoxification. Patients present in infancy with hypotonia, developmental delay, diarrhea, orthostatic acrocyanosis and petechiae. Biochemical findings include elevated C4, C5 acylcarnitines and lactic and ethylmalonic acid (EMA) in body fluids. Current treatment modalities include metronidazole and N-acetylcysteine (NAC) to lower the production and promote detoxification of toxic H2S. Patients are typically identified after the onset of clinical symptoms and there is limited information about long term response to treatment. We report the findings of two unrelated patients with EE, identified through newborn screening, who were managed with conventional treatment (NAC, metronidazole alternated with neomycin) and in patient 2, a novel dietary treatment restricting sulfur containing amino acids. Pathogenic mutations were confirmed in the ETHE1 gene (homozygous splice site mutation in patient 1, c.505 + 1G > A; compound heterozygous mutations in patient 2, c.131_132delAG + c.566delG). Both patients were started on metronidazole and NAC by 10 weeks of age and treated for 23 months. Patient 1 did not accept the metabolic formula due to palatability and parental refusal for gastrostomy tube placement. She demonstrated improved biomarkers (EMA, lactic acid and thiosulfate) and an attenuated clinical course. Patient 2 was started on a low methionine and cysteine diet at 8 months of age utilizing SOD Anamix® Early Years, (Nutricia). Baseline EMA levels were (642 mg/g Cr; n = 2) and decreased with medical treatment by 38% to a mean of 399 (n = 4, SD = 71, p 0.0013). With dietary treatment EMA levels were further reduced by 42% to a mean of 233 (n = 8, SD = 52, p 0.0030). Lactic acid, thiosulfates and clinical outcomes were also improved. Our long-term follow-up confirms previous reports of clinical improvement with NAC and metronidazole treatment. Additionally, our studies suggest that a diet restricted in sulfur-containing amino acids results in further improvement in clinical outcomes and biochemical markers.
- Transcriptomic analysis of FUCA1 knockdown in keratinocytes reveals new insights in the pathogenesis of fucosidosis skin lesions. [Journal Article]
- EDExp Dermatol 2018 Mar 08
- Fucosidosis is a rare lysosomal storage disease which has been classified into two subtypes, depending on the severity of clinical signs and symptoms. Fucosidosis patients' skin abnormalities include...
Fucosidosis is a rare lysosomal storage disease which has been classified into two subtypes, depending on the severity of clinical signs and symptoms. Fucosidosis patients' skin abnormalities include angiokeratoma corporis diffusum, widespread telangiectasia, thick skin, hyperhidrosis and hypohidrosis, acrocyanosis and distal transverse nail bands. It has been described that >50% of fucosidosis patients have angiokeratoma. At molecular level, fucosidosis is caused by lysosomal alpha-L-fucosidase (FUCA1) gene mutations. Obtaining samples for functional studies has been challenging due to the inherent difficulty in finding affected individuals. The effect of FUCA1 dysfunction on gene expression is unknown. The aim of the present study was to analyse, in keratinocytes, the transcriptomic effect of FUCA1 knock-down for a better understanding of skin lesions' pathogenesis affecting fucosidosis patients. FUCA1 knock-down (siRNA) was performed in human HaCaT immortalised keratinocytes. Affymetrix arrays and qPCR were used for analysing gene expression. Bioinformatics was used for functional clustering of modified genes. 387 genes showed differential expression between FUCA1 silenced and non-silenced cells (222 up-regulated and 165 down-regulated). Upregulated genes belonged to two major groups: keratinocyte differentiation/epidermal development (n=17) and immune response (n= 61). Several transcription factors were upregulated in FUCA1-siRNA transfected cells. This effect might partly have been produced by abnormal transcription factor expression, i.e. FOXN1. We thus propose that fucosidosis-related skin lesions (e.g. angiokeratoma) and those of other diseases (e.g. psoriasis) might be caused by dysfunctions in common aetiological overlapping molecular cascades. This article is protected by copyright. All rights reserved.
- Acrocyanosis - A Symptom with Many Facettes. [Review]
- OAOpen Access Maced J Med Sci 2018 Jan 25; 6(1):208-212
- Acrocyanosis is an uncommon complaint belonging to the acro-syndromes. It typically presents with coolness and bluish discolourations of hands, feet, ears, nose, lips and nipple. The most frequently ...
Acrocyanosis is an uncommon complaint belonging to the acro-syndromes. It typically presents with coolness and bluish discolourations of hands, feet, ears, nose, lips and nipple. The most frequently affected parts of the body are the hands. This review discusses physical factors, vascular disorders, infectious diseases, haematological disorders, solid tumours genetic disorders, drugs, eating disorders, and spinal disease presenting as or leading to acrocyanosis.
- Severe acrocyanosis precipitated by cold agglutinin secondary to infection with Mycoplasma pneumoniae in a pediatric patient. [Case Reports]
- CMCroat Med J 2017 Dec 31; 58(6):424-430
- This is the first report describing a severe form of cold agglutinin-induced acrocyanosis with cutaneous necrosis after Mycoplasma infection in a 9-year-old patient without any other severe symptoms ...
This is the first report describing a severe form of cold agglutinin-induced acrocyanosis with cutaneous necrosis after Mycoplasma infection in a 9-year-old patient without any other severe symptoms and laboratory alterations. We also present the results of two non-invasive methods used to determine the viability of tissues, degree of tissue perfusion impairment, and the responsiveness of the microvasculature. Laser Doppler flowmetry and laser speckle contrast imaging, both suitable to measure tissue blood perfusion non-invasively, have been used in the diagnosis and follow-up of various peripheral vascular diseases. In our patient, we demonstrated remarkably reduced microcirculation before the treatment and a significant perfusion increase in the acral regions after pentoxifylline therapy. The investigational techniques were useful tools to assess and quantify the severity of peripheral perfusion disturbances and to monitor the efficacy of the treatment in our patient.
- Erythromelalgia. [Review]
- VASAVasa 2018; 47(2):91-97
- Erythromelalgia is a rare syndrome characterized by the intermittent or, less commonly, by the permanent occurrence of extremely painful hyperperfused skin areas mainly located in the distal extremit...
Erythromelalgia is a rare syndrome characterized by the intermittent or, less commonly, by the permanent occurrence of extremely painful hyperperfused skin areas mainly located in the distal extremities. Primary erythromelalgia is nowadays considered to be a genetically determined neuropathic disorder affecting SCN9A, SCN10A, and SCN11A coding for NaV1.7, NaV1.8, and NaV1.9 neuronal sodium channels. Secondary forms might be associated with myeloproliferative disorders, connective tissue disease, cancer, infections, and poisoning. Between the pain episodes, the affected skin areas are usually asymptomatic, but there are patients with typical features of acrocyanosis and/or Raynaud's phenomenon preceding or occurring in between the episodes of erythromelalgia. Diagnosis is made by ascertaining the typical clinical features. Thereafter, the differentiation between primary and secondary forms should be made. Genetic testing is recommended, especially in premature cases and in cases of family clustering in specialized genetic institutions after genetic counselling. Multimodal therapeutic intervention aims toward attenuation of pain and improvement of the patient's quality of life. For this purpose, a wide variety of nonpharmacological approaches and pharmacological substances for topical and systemic use have been proposed, which are usually applied individually in a step-by-step approach. Prognosis mainly depends on the underlying condition and the ability of the patients and their relatives to cope with the disease.
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- Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency. [Journal Article]
- MBMetab Brain Dis 2018; 33(3):977-979
- Ethylmalonic encephalopathy is a very rare autosomal recessively inherited inborn error of metabolism; characterized by encephalopathy, recurrent petechiae without bleeding diathesis, chronic diarrhe...
Ethylmalonic encephalopathy is a very rare autosomal recessively inherited inborn error of metabolism; characterized by encephalopathy, recurrent petechiae without bleeding diathesis, chronic diarrhea, and orthostatic acrocyanosis. Here, we describe a case of ethylmalonic encephalopathy with late onset neurologic symptoms and a confusing family history of two deceased brothers with the wrong suspicion of short chain acyl-CoA dehydrogenase deficiency.