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Atrophic lichen planus
Atrophic lichen planus (LP) is a rare form of lichen planus, which is a condition that affects the skin and/or mouth. In atrophic LP, specifically, affected people develop pale papules or plaques with an atrophic (broken down tissue) center. Although these papules can be found anywhere on the body, they most commonly affect the trunk…
Autoimmune autonomic ganglionopathy
Autoimmune autonomic ganglionopathy (AAG) is a condition in which the body’s immune system mistakenly attacks and damages certain parts of the autonomic nervous system. AAG may be divided into two different types based on the presence of specific types of cells in the blood that normally fight infection (antibodies). Signs and symptoms of AAG usually begin…
Gigantism
Gigantism is abnormally large growth due to an excess of growth hormone (GH) during childhood, before the bone growth plates have closed (epiphyseal fusion). It causes excessive growth in height, muscles, and organs, making the child extremely large for his or her age. Other symptoms may include delayed puberty; double vision or difficulty with side (peripheral) vision; prominent forehead (frontal…
Hemochromatosis type 4
Hemochromatosis type 4 (also called ferroportin disease) is a disease in which too much iron builds up in the body. This is also called iron overload. Accumulation of iron in the organs is toxic and can cause organ damage. While many organs can be affected, iron overload is especially likely to affect the liver, heart,…
Glycine N-methyltransferase deficiency
Glycine N-methyltransferase deficiency (GNMT deficiency) is a very rare condition characterized by persistent and isolated excess levels of methionine in the blood (hypermethioninemia). The only clinical abnormalities are mild increase of the liver size (hepatomegaly) and chronic elevation of the transaminase levels in the blood without liver disease. Methionine may also be increased in urine. However,…
Griscelli syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 381 Definition Griscelli syndrome (GS) is a rare cutaneous disease characterized by a silvery-gray sheen of the hair and hypopigmentation of the skin, which can be associated to primary neurological impairment (type 1), immunologic impairment…
Guttate psoriasis
Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body. It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral…
Juvenile Paget disease
Juvenile Paget disease is a very rare condition that affects bone growth. This condition causes bones to be abnormally large, misshapen, and easily broken (fractured). Signs and symptoms usually appear in infancy or early childhood. As bones grow, they become weaker and more deformed. This condition affects the entire skeleton, resulting in widespread bone and…
Bartter syndrome type 3
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93605 Definition Classic Bartter syndrome is a type of Bartter syndrome (see this term), characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of…
Von Willebrand disease
Von Willebrand disease is a bleeding disorder that slows the blood clotting process. People with this disease often experience bruising, nosebleeds, and prolonged bleeding or oozing following an injury, affer surgery, or having a tooth pulled. Affected women may have heavy menstrual bleeding. In severe cases, heavy bleeding occurs after minor injury or even in…
Baylisascaris infection
Baylisascaris roundworms are intestinal parasites found in many different animals.[1] Baylisascaris infection in humans is uncommon but can be severe. While Baylisascaris can infect different types of animals, Baylisascaris procyonis, carried by raccoons, is thought to pose the greatest risk to humans because raccoons often live in close proximity to humans.[1][2] Humans can acquire the parasite by ingesting the eggs…
Kikuchi disease
Kikuchi disease is a benign (non-cancerous) condition of the lymph nodes. The main symptoms include swollen lymph nodes in the neck, mild fever, and night sweats. Less common symptoms include weight loss, nausea, vomiting, and sore throat. While the exact cause of this condition is unknown, infectious and autoimmune causes have been suggested. Kikuchi disease usually…
Mousa Al din Al Nassar syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2572 Definition Spastic ataxia-corneal dystrophy syndrome is a rare, hereditary ataxia disorder characterized by the presence of spastic ataxia in association with bilateral congenital cataract, macular corneal dystrophy (stromal with deposition of mucoid material) and…
Hypoparathyroidism-intellectual disability-dysmorphism syndrome
Hypoparathyroidismintellectual disability-dysmorphism syndrome is a genetic disorder present from birth (congenital) characterized by multiple anomalies and intellectual disability. Symptoms may include: hypoparathyroidism, delayed growth (growth restriction), seizures, microcephaly (small head size), differences in development of the face, eyes, and teeth, and shortened hands and feet. It is caused by mutations in the TBCE gene and is inherited…
Giant platelet syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 274 Definition Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination. Visit the Orphanet disease page for more resources.
Parainfluenza virus type 3
Parainfluenza virus type 3 is one of a group of common viruses known as human parainfluenza viruses (HPIV) that cause a variety of respiratory illnesses.[1] Symptoms usually develop between 2 and 7 days from the time of exposure and typically resolve in 7-10 days. [2][3] Symptoms may include fever, runny nose, and cough. HPIV-3 can also…
Sandhoff disease
Sandhoff disease is an inherited lipid storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.[1][2] The most common and severe form of Sandhoff disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months when their development slows and muscles used…
IgG4-related disease
IgG4-related disease is an immune-mediated condition that can affect multiple organ systems.[1][2][3][4] Common features include IgG4-related autoimmune pancreatitis, swelling of or within an organ system (an inflammatory pseudotumor), salivary gland disease (which can lead to enlargement of the salivary glands), swollen lymph nodes (lymphadenopathy), skin manifestations, and symptoms consistent with allergies or asthma. The cause…
Pallister-Hall syndrome
Pallister-Hall syndrome (PHS) is a genetic disease that affects the development of many parts of the body. Common features include extra fingers and/or toes (polydactyly), extra skin between the fingers or toes (syndactyly), an abnormal growth in the brain called a hypothalamic hamartoma, and a malformation of the airway known as bifid epiglottis.[1] The bifid epiglottis in rare cases may…
Burning mouth syndrome
Burning mouth syndrome is characterized by long-lasting burning sensations of the mouth. The pain may affect the tongue, gums, lips, palate, throat, or the entire mouth. Burning mouth syndrome may be primary or secondary. Experts believe that the primary form may be caused by damage to the nerves that control pain and taste. The secondary…
Paroxysmal ventricular fibrillation
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 228140 Definition A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a…
Brachydactylous dwarfism Mseleni type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2619 Definition Mseleni joint disease (MJD) is a rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that…
Interstitial lung disease
Interstitial lung diseases (ILDs) are a large group of disorders characterized by thickening of the walls between the alveoli, increased production and buildup of collagen, and pulmonary fibrosis (progressive scarring of lung tissue).[1] The scarring eventually affects the ability to breathe and get enough oxygen into the bloodstream. Symptoms typically include shortness of breath and a dry cough.[2]…
Intellectual deficit Buenos-Aires type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3079 Definition Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set…
Pseudopelade of Brocq
Pseudopelade of Brocq (PBB) is a slowly progressive, chronic condition characterized by scarring hair loss (cicatricial alopecia). There exists some controversy as to whether PBB is a distinct condition or the common final stage or variant of several different forms of scarring alopecias, such as discoid lupus erythematosus (DLE) or lichen planopilaris (LPP). PBB is classified into…
Megalocytic interstitial nephritis
Megalocytic interstitial nephritis is a rare chronic kidney disease that is characterized by inflammation of the kidney. The inflammation is mainly found in an area of the kidney called the renal cortex, which is in the outer portion of the kidney. The exact cause of megalocytic interstitial nephritis is not clear; however, it is associated…
Juvenile polymyositis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93568 Definition A rare type of juvenile idiopathic inflammatory myopathy (IIM) characterized by an onset before 18 years of age of chronic skeletal muscle inflammation, manifesting as progressive, proximal and distal muscle weakness and atrophy….
Spondylocamptodactyly
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3180 Definition Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis. Epidemiology This syndrome has been described in five members from three generations of one family. Genetic counseling…
Sacral meningocele conotruncal heart defects
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COG7-CDG (CDG-IIe)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79333 Definition COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom…
Malignant mixed Mullerian tumor
A malignant mixed müllerian tumor (MMMT), also called a carcinosarcoma, is a type of cancer that contains two types of cancer cells carcinoma and sarcoma cells. These tumors usually develop in tissues of the female genital tract and are associated with a poor outcome. The majority of these tumors arise in the uterus, though they…
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is a rare neurological disease characterized by slowly progressive cerebellar ataxia (lack of control of the movements) and spasticity with dorsal column dysfunction (decreased position and vibration sense) in most patients. The disease involves the legs more than the arms. It usually starts…
Caroli disease
Caroli disease is a condition characterized by an abnormal widening of the intrahepatic bile ducts (the ducts that carry bile from the liver) and renal cysts. People affected by this condition experience recurrent episodes of cholestasis, stone development in the bile ducts, and bacterial cholangitis. In addition to the symptoms of Caroli disease, people affected…
Leukodystrophy
A leukodystrophy is a type of rare genetic disorder that affects the brain, spinal cord, and other nerves in the body. It is caused by destruction of the white matter of the brain. The white matter degrades due to defects of the myelin, which is a fatty covering that insulates nerves in the brain. Myelin is needed to…
Wellesley Carmen French syndrome
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Limb-girdle muscular dystrophy type 2F
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 219 Definition A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated…
Mac Dermot Winter syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2083 Definition Prominent glabella ? microcephaly ? hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. Visit the…
Zellweger syndrome
Zellweger syndrome is the most severe form of a spectrum of conditions called Zellweger spectrum. The signs and symptoms of Zellweger syndrome typically appear during the newborn period and may include poor muscle tone (hypotonia), poor feeding, seizures, hearing loss, vision loss, distinctive facial features, and skeletal abnormalities.[1][2] Affected children also develop life-threatening problems in other organs and tissues, such…
Malignant peripheral nerve sheath tumor
A malignant peripheral nerve sheath tumor (MPNST) is a tumor that develops in the protective lining that covers nerves.[1][2][3] The first symptom of MPNST is often a lump or mass that increases in size, sometimes causing pain or a tingling sensation.[1] MPNST is considered an aggressive tumor because there is up to a 65% chance of the tumor…
Charcot-Marie-Tooth disease type 2B
Charcot-Marie-Tooth disease type 2B (CMT2B) is an inherited peripheral neuropathy with onset in the second or third decade of life. Common signs and symptoms include severe loss of sensation in the feet, lower legs, hands, and forearms; reduced tendon reflexes in the ankles; weakness in the lower limbs; and the loss of muscle tissue (muscle…
MASS phenotype
MASS phenotype is a familial connective tissue disorder similar to Marfan syndrome that affects different people in different ways.[1] MASS is an acronym for features of the disorder that may be present:[1][2][3] Mitral valve prolapse a heart condition in which the two valve flaps of the mitral valve in the heart do not close smoothly or evenly, and bulge…
MEGDEL syndrome
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Intrahepatic cholestasis of pregnancy
Intrahepatic cholestasis of pregnancy (ICP) is a disorder of the liver that occurs in women during pregnancy. Cholestasis is a condition that impairs the release of bile (a digestive juice) from liver cells. The bile then builds up in the liver, impairing liver function. Symptoms typically become apparent in the third trimester of pregnancy and can include…
Pyle disease
Pyle disease is a bone disorder characterized by knock knees (genu valgum), relative constriction of the diaphysis or shaft of the bone and flaring of the metaphysis or end of the bone (Erlenmeyer flask deformity), widening of the ribs and collarbones, flattening of the bones of the spine (platyspondyly), and thinning of outer (cortical) layer…
Chromosome 17q11.2 deletion syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 97685 Definition 17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number…
MIRAGE syndrome
MIRAGE syndrome is a condition characterized by Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital problems, and Enteropathy (intestinal problems). It was originally described in 11 patients who had growth restriction, intellectual disability, developmental delay, adrenal insufficiency resulting in skin hyperpigmentation, symptoms of salt loss, poorly developed and abnormal genitalia (small penis, absence of one…
Mosaic trisomy 9
Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body’s cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe…
Chromosome 4p duplication
Chromosome 4p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 4. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in…
Punctate inner choroidopathy
Punctate inner choroidopathy (PIC) is an inflammatory disorder that primarily affects the choroid (vascular layer) of the eye. It most commonly occurs in young, near-sighted (myopic) women. The symptoms and severity may vary from person to person. Symptoms may include a blind spot (scotomata), blurred vision, photopsia (perceived flashes of light), floaters, light sensitivity (photophobia), distorted…
Chromosome 9 inversion
Chromosomes are the structures found in every cell of the body that contain our DNA, the instructions that tell our body what to do. Humans have 23 pairs of chromosomes, which means that each human cell contains 46 chromosomes. Each chromosome has a p and q arm; p is the short arm and q is the…
X-linked myopathy with excessive autophagy
X-Linked Myopathy with Excessive Autophagy (XMEA) is a type of inherited myopathy (muscle disease) that mainly affects males. It is characterized by muscle weakness that begins in childhood that slowly worsens over time. Weakness involving the upper legs is typically noticed first, affecting activities such as running and climbing stairs. As the condition progresses, men with XMEA may experience weakness in their lower…
Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids
Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is a treatable inflammatory disease of the central nervous system. Specifically, it is a type of encephalomyelitis, which is a general term describing inflammation of the brain and spinal cord.[1] CLIPPERS predominantly affects the cerebellum, spinal cord, and brainstem – the part of the brain that directly…
Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3145 Definition This syndrome is characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism. Epidemiology It has been described in two siblings. Differential diagnosis Differential diagnosis includes Cockayne syndrome (see…
Oculomaxillofacial dysostosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1794 Definition Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon,…
Congenital nephrotic syndrome Finnish type
Congenital nephrotic syndrome Finnish type is a genetic condition of the kidney that begins early in development during pregnancy or within the first three months of life. The syndrome is characterized by a group of symptoms, including protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, and swelling (nephrotic syndrome), which progresses rapidly to end-stage…
Osteoporosis-pseudoglioma syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2788 Definition Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures. Epidemiology The estimated prevalence is 1/2 000 000. Clinical description Additional clinical…
Renal coloboma syndrome
Renal coloboma syndrome is a rare condition that affects kidney and eye development. It is characterized by small underdeveloped kidneys, malformation of the optic nerve, and sometimes a hole (coloboma) in the retina. People with renal coloboma syndrome may progress to end stage kidney disease and some people experience vision loss. Less common symptoms include vesicoureteral reflux, multiple kidney cysts, loose…
Osteodysplasia familial Anderson type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2769 Definition Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis)…
Complex regional pain syndrome
Complex regional pain syndrome (CRPS) is a chronic pain condition that mainly affects the arms, legs, hands, and feet, but may involve the entire body. CRPS symptoms often begin after surgery or an injury.[1] The main feature of CRPS is continuous, intense pain that is out of proportion to the severity of the injury. The pain…
Pili annulati
Pili annulati is a hair disorder. In pili annulati, affected hair has a pattern of light and dark banding.[1] People with pili annulati may describe their hair as “striped” or as having silvery beads. Pili annulati typically involves 20-80% of scalp hair, however it can involve facial and body hair as well. Affected hairs may…
Pelger-Huet anomaly
Pelger-Huet anomaly (PHA) is an inherited blood condition in which the nuclei of several types of white blood cells (neutrophils and eosinophils) have unusual shape (bilobed, peanut or dumbbell-shaped instead of the normal trilobed shape) and unusual structure (coarse and lumpy). Click here to view a picture of these cells seen under the microscope. PHA…
Plasmablastic lymphoma
Plasmablastic lymphoma is an aggressive form of non-Hodgkin lymphoma. Although the condition most commonly occurs in the oral cavity, it can be diagnosed in many other parts of the body such as the gastrointestinal tract, lymph nodes, and skin. The exact underlying cause of plasmablastic lymphoma is poorly understood; however, it is often associated with suppression…
Tufting enteropathy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 92050 Definition Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure. Epidemiology No epidemiological data is available, however, the prevalence can be estimated…
Short rib-polydactyly syndrome type 3
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93271 Definition Short ribpolydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis…
Congenital hydrocephalus
Congenital hydrocephalus is when a child is born with an excessive accumulation of cerebrospinal fluid (CSF) in the brain. CSF is a clear fluid that surrounds the brain and spinal cord. This excess fluid causes an abnormal widening of spaces in the brain called ventricles (ventriculomegalia) and can create a harmful pressure on brain tissue.[1]…
Renal tubular dysgenesis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3033 Definition Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat…
Pachyonychia congenita
Pachyonychia congenita (PC) is a rare inherited condition that primarily affects the nails and skin. The fingernails and toenails may be thickened and abnormally shaped. Affected people can also develop painful calluses and blisters on the soles of their feet and less frequently on the palms of their hands (palmoplantar keratoderma). Additional features include white patches on the tongue and inside of the…
Congenitally corrected transposition of the great arteries
Congenitally corrected transposition of the great arteries is a rare heart defect that occurs when the ventricles and attached valves are switched. As a result, the aorta and the pulmonary artery are connected to the wrong lower heart chambers.[1][2] Click here to visit MayoClinic.com and view an image of this heart defect. While the oxygen-poor blood still flows…
Tetrasomy X
Tetrasomy X is a chromosome disorder that only affects females and is caused by having four copies of the X chromosome instead of two. Females with tetrasomy X have a total of 48 chromosomes in their cells, so this condition is sometimes written as 48, XXXX. The signs and symptoms of tetrasomy X vary, but…
Cor triatriatum
Cor triatriatum is an extremely rare congenital (present at birth) heart defect. The human heart normally has four chambers, two ventricles and two atria. The two atria are normally separated from each other by a partition called the atrial septum and the two ventricles by the ventricle septum. In cor triatriatum there is a small extra…
Renal glycosuria
Renal glycosuria is a rare condition in which glucose is excreted in the urine despite normal or low blood glucose levels. With normal kidney function, glucose is excreted in the urine only when there are abnormally elevated levels of glucose in the blood. However, in people with renal glycosuria, glucose is abnormally eliminated in the…
Scott Bryant Graham syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1514 Definition Craniodigital syndrome intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled’ facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit….
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