In the neonatal period, aplasia cutis congenita, herpes simplex infection, congenital erosive and vesicular dermatosis, epidermolytic ichthyosis, linear IgA bullous dermatosis, bullous pemphigoid, neonatal pemphigus and pemphigoid gestationis, bullous impetigo, and staphylococcal scalded skin syndrome (see these terms) may need to be considered.
Bouwes Bavinck et al. (1987) described an extensively affected family with DDEB; at least 4 members of the family also had congenital localized absence of skin as seen in Bart syndrome. Bouwes Bavinck et al. (1987) concluded that there was no clear evidence to suggest that the Cockayne-Touraine, Pasini, and Bart forms of DEB are separate entities, and that the clinical features can be regarded as variations on a spectrum within and between families. ... These findings contributed to the accumulating evidence that the 3 types of autosomal dominant epidermolysis bullosa dystrophica, namely, the Cockayne-Touraine type, the Pasini type, and Bart syndrome, are due to mutations in the same gene for type VII collagen.
Dystrophic epidermolysis bullosa is one of the major forms of a group of conditions called epidermolysis bullosa. Epidermolysis bullosa cause the skin to be very fragile and to blister easily. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. The signs and symptoms of dystrophic epidermolysis bullosa vary widely among affected individuals. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows.
Dominant dystrophic epidermolysis bullosa (DDEB) is a type of epidermolysis bullosa (EB), which is a group of rare inherited conditions in which the skin blisters extremely easily. DDEB is one of the milder forms of EB, although the severity is variable. Blisters may be present at birth, but typically appear during early childhood; occasionally they do not develop until later in life. Blisters often become more numerous and tend to occur over vulnerable sites such as knees, ankles, elbows and knuckles. In adulthood, they usually become less frequent and scars fade. Other signs and symptoms of DDEB may include dystrophic or absent nails, constipation, dental caries and swallowing problems.
Nomenclature The symbol 'DTGA2' was originally used to designate isolated cardiac malformations associated with mutations in the CFC1 gene (605194) on chromosome 2; DGTA2 has since been reclassified as a variant of a heterotaxy syndrome (HTX2; 605376). The symbol 'DTGA3' was formerly used for transposition of the great arteries caused by mutation in the GDF1 gene (602880); the symbol for the multiple types of congenital heart defects caused by mutation in GDF1, including TGA, is CHTD6 (613854).
Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance. Epidemiology The incidence is estimated at 1 in 3,500-5,000 live births, with a male-to-female ratio of 1.5 to 3.2:1. Clinical description In 50% of cases, the VA discordance is an isolated finding. In 10% of cases, TGA is associated with noncardiac malformations. The association with other cardiac malformations such as ventricular septal defect (VSD) and left ventricular outflow tract obstruction is frequent and dictates the timing and clinical presentation, which consists of cyanosis with or without congestive heart failure. The onset and severity depend on anatomical and functional variants that influence the degree of mixing between the two circulatory systems.
Transposition of the great arteries (TGA) is a type of congenital heart defect in which there is a reversal of the normal connections of the aorta and the pulmonary artery with the heart. The aorta and pulmonary artery are reversed, which causes oxygen-poor blood to be circulated to the body and oxygen-rich blood to be circulated between the lungs and the heart, rather than to the body. Symptoms are apparent at birth and include great difficulty breathing and severe cyanosis (a bluish discoloration of the skin). The exact cause of TGA in most cases is unknown. Surgery is done to correct the abnormality during the first few days of life.
A number sign (#) is used with this entry because Farber lipogranulomatosis (FRBRL) is caused by homozygous or compound heterozygous mutation in the gene encoding acid ceramidase (ASAH1; 613468) on chromosome 8p. Description Farber lipogranulomatosis is an autosomal recessive lysosomal storage disorder characterized by early-onset subcutaneous nodules, painful and progressively deformed joints, and hoarseness by laryngeal involvement. Based on the age of onset, the severity of symptoms, and the difference in organs affected, 6 clinical subtypes due to deficiency of acid ceramidase have been distinguished. The most severe form is subtype 4, a rare neonatal form of the disease with death occurring before 1 year of age (summary by Alves et al., 2013). Clinical Features In the few reported cases of Farber disease, manifestations appeared in the first few weeks of life and consisted of irritability, hoarse cry, and nodular, erythematous swellings of the wrists and other sites, particularly those subject to trauma.
"A lipid metabolic disorder: disseminated lipogranulomatosis; a syndrome with similarity to, and important difference from, Niemann-Pick and Hand-Schüller-Christian disease".
Farber lipogranulomatosis is a rare inherited condition involving the breakdown and use of fats in the body (lipid metabolism). In affected individuals, lipids accumulate abnormally in cells and tissues throughout the body, particularly around the joints. Three classic signs occur in Farber lipogranulomatosis: a hoarse voice or a weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen and painful joints. Affected individuals may also have difficulty breathing, an enlarged liver and spleen (hepatosplenomegaly), and developmental delay. Researchers have described seven types of Farber lipogranulomatosis based on their characteristic features.
Farber disease is an inherited lipid storage disease in which an excess amount of fat builds up in the joints, tissues, and central nervous system . Symptoms of Farber disease include a hoarse voice or weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen and painful joints. Other symptoms may include difficulty breathing, an enlarged liver and spleen (hepatosplenomegaly), and developmental delay. The symptoms tend to get worse over time and lead to a shortened lifespan. There are multiple types of Farber disease classified by the severity and nervous system involvement.
Please introduce links to this page from related articles ; try the Find link tool for suggestions. ( October 2019 ) Microvasculitis refers to a range of diseases or presentations associated with a disease, where there is inflammation of small blood vessels : Kawasaki disease Susac syndrome Nerve microvasculitis [ edit ] Non-systemic vasculitic neuropathy (NSVN) [1] Hepatitis C-related cryoglobulinemia neuropathy (CRYOVASC) [1] Hepatitis B-associated PAN [1] Diabetic lumbosacral radiculoplexus neuropathy (DLRPN) [1] Non-diabetic lumbosacral radiculoplexus neuropathy (LRPN) [1] Diabetic cervical-radiculoplexus neuropathy (DCRPN) [1] Diabetic Cranio-Cervico-Radiculoplexus Neuropathy Diabetic Cervical Neuropathy References [ edit ] ^ a b c d e f Naddaf, Elie; Dyck, P.
Early in the disease, the patients showed typical signs of the disorder, including a kineto-rigid syndrome, resting tremor, and good response to levodopa.
INHERITANCE - Autosomal recessive RESPIRATORY - Acute respiratory distress syndrome associated with influenza A infection IMMUNOLOGY - Susceptibility to infection with influenza A infection MISCELLANEOUS - One patient has been reported (last curated May 2015) MOLECULAR BASIS - Caused by mutation in the interferon regulatory factor 7 gene (IRF7, 605047.0001 ) ▲ Close
Among various complications due to infection, renal-related disorders are often the most life-threatening. [1] Including malaria-induced renal lesions, infection may lead to both tubulointerstitial damage and glomerulonephritis . [2] In addition, malarial acute kidney failure has emerged as a serious problem due to its high mortality rate in non-immune adult patients. [2] [3] Contents 1 Mechanism 2 Treatment 3 Epidemiology 4 References Mechanism [ edit ] Due to the complex malarial syndrome, there are many pathogenic interactions leading to acute renal failure, such as hypovolemia , intravascular hemolysis and disseminated intravascular coagulation . [1] [2] [3] Malarial acute renal failure prevents the kidneys from efficiently removing excess fluid, electrolytes and waste material from the blood. [1] [2] [3] [4] The accumulation of these fluids and material will cause adverse consequences for the patient including, electrolyte abnormality and increased urinary protein excretion. [4] Treatment [ edit ] Untreated patients often face a large number of physical complications, but early diagnosis and effective treatment can reduce the high risk of mortality in patients. [1] [2] [3] A three-pronged approach against infection is regularly needed for successful treatment. antimalarial drug therapy (e.g., artemisinin derivatives), fluid replacement (e.g., oral rehydration therapy), and if needed, renal replacement therapy. [1] [2] [3] Epidemiology [ edit ] Malarial nephropathies are reported in endemic areas, such as Southeast Asia, India, and Sub-Saharan Africa. [1] [2] [3] The pathogenesis of acute kidney injury in severe malaria is unspecific and multifactorial—it affects fewer than 4.8 percent of cases, but reports a high risk of mortality (15 to 45 percent). [1] [2] [3] Histologic evidence shows a large combination of pathogenic mechanisms at play— acute tubular necrosis , interstitial nephritis and glomerulonephritis . [1] Risk factors for malarial acute kidney injury include delayed diagnosis, high parasitemia , and clinical presentation of oliguria , low blood pressure, severe anemia , and jaundice .
Cox et al. (1992) found close linkage with no recombination between ALAS2 and DXS14, whereas Raskind et al. (1991) reported negative lod scores which excluded linkage within 5 to 10 cM of DXS14 with the sideroblastic anemia/ataxia syndrome. Molecular Genetics In a family with 5 affected males with ASAT, Allikmets et al. (1999) identified a missense mutation (I400M; 300135.0001) in the ABCB7 gene.
A rare syndromic, inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.
X-linked sideroblastic anemia and ataxia is a rare condition characterized by a blood disorder called sideroblastic anemia and movement problems known as ataxia. This condition occurs only in males. Sideroblastic anemia results when developing red blood cells called erythroblasts do not make enough hemoglobin , which is the protein that carries oxygen in the blood. People with X-linked sideroblastic anemia and ataxia have mature red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. This disorder also leads to an abnormal accumulation of iron in red blood cells. The iron-loaded erythroblasts, which are present in bone marrow , are called ring sideroblasts.
Patients who have undergone strabismus surgery at a young age often have monofixation syndrome (with peripheral binocular fusion and a central suppression scotoma).
None of the affected individuals had limitation of ocular abduction or limb abnormalities as described for Moebius syndrome (MBS; 157900). Cognition was normal in all patients.
These tear drop cells are found primarily in diseases with bone marrow fibrosis, such as: primary myelofibrosis , myelodysplastic syndromes during the late course of the disease, rare form of acute leukemias and myelophthisis caused by metastatic cancers .
A number sign (#) is used with this entry because hyperlipoproteinemia type III is caused by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene (107741) on chromosome 19q13. Description Hyperlipoproteinemia type III, also called dysbetalipoproteinemia, is characterized by hyperlipidemia due to accumulation of remnants of the triglyceride (TG)-rich lipoproteins (TGRL), very low density lipoproteins (VLDL), and chylomicrons (CM), in response to dysfunctional genetic variants of apolipoprotein E or absence of apoE (summary by Blum, 2016). Clinical Features In normal individuals, chylomicron remnants and very low density lipoprotein remnants are rapidly removed from the circulation by receptor-mediated endocytosis in the liver. In familial dysbetalipoproteinemia, or type III hyperlipoproteinemia, increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants because of a defect in apolipoprotein E. Accumulation of the remnants can result in xanthomatosis and premature coronary and/or peripheral vascular disease.
A rare combined hyperlipidemia (HLP type 3) characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of progressive atherosclerosis and premature cardiovascular disease. Epidemiology Dysbetalipoproteinemia prevalence is estimated at 1/10,000 in the general population. Men are predominantly affected (male-female ratio about 2:1). The disease very rarely occurs before adulthood or in premenopausal women. Clinical description Most patients are asymptomatic. Clinical signs that may appear during adulthood are xanthomas of the eyelids (i.e. xanthelasma), transient xanthomas on palms (i.e. planar palmar xanthomas) or tuberous xanthomas over elbows or knees. Sensitive hepatomegaly may be observed. Patients develop highly progressive atherosclerosis that can lead to premature cardiovascular disease (stroke, coronary and peripheral artery disease.
Hyperlipidemia type 3 is an inherited condition that disrupts the normal breakdown of fats (lipids) in the body, causing a large amount of certain fatty materials to build up in the body. Some individuals never have symptoms of this condition. Symptoms usually do not appear unless a second genetic or environmental factor adds to increased lipid levels. Symptoms may include: yellowish lipid-filled bumps on the skin (xanthomas), inflammation of the pancreas (pancreatitis), and a buildup of fat in the blood vessels (atherosclerosis). Hyperlipidemia type 3 may lead to the development of cardiovascular disease . This condition is caused by mutations in the APOE gene. The inheritance of this condition is considered to be complicated, as having mutations in the APOE gene often does not lead to the development of symptoms without the influence of other factors.
The term 'hyperostosis-hyperphosphatemia syndrome' is sometimes used when the disorder is characterized by involvement of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis.