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Culler-Jones syndrome
Culler-Jones syndrome is a rare disease characterized by pituitary anomalies resulting in hypopituitarism, presence of extra fingers (polydactyly) and unusual facial features.[1] Symptoms related to the hypopituitarism may include abdominal pain, decreased appetite, short stature, delayed bone age, diabetes insipidus, slowed growth and sexual development, undescended testis (cryptorchidism) and small penis (hypogonadotropic hypogonadism). Facial features…
Short stature-craniofacial anomalies-genital hypoplasia syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2994 Definition Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less…
Cylindrical spirals myopathy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171886 Definition Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas…
Cardioskeletal syndrome Kuwaiti type
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Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1568 Definition X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and…
Spastic paraplegia 14
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100995 Definition Autosomal recessive spastic paraplegia type 14 is a rare, complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb…
Diffuse cutaneous systemic sclerosis
Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of systemic scleroderma (systemic sclerosis) characterized by skin hardening (fibrosis) and problems in many organs of the body. The disease can occur at any age but mainly affects people between 40 and 50 years of age. Symptoms include Raynaud’s phenomenon; skin fibrosis beginning on the fingers and face…
Prune belly syndrome
Prune belly syndrome (PBS) is a condition characterized by a lack of abdominal muscles, causing the skin on the abdominal area to wrinkle and appear “prune-like”; undescended testicles in males; and urinary tract malformations. PBS is more common in males. The severity of symptoms can vary greatly from person to person. At one end of the spectrum,…
Spastic paraplegia-glaucoma-intellectual disability syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2818 Definition Spastic paraplegiaglaucomaintellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of…
Subependymoma
Subependymomas are slow-growing brain tumors that are usually benign. They are most often found in the fourth or lateral ventricles in the brain, but may occur in the spine.[1][2] Symptoms depend on the tumor location.[3] Some people do not have symptoms, while others may have headaches, changes in vision, and/or difficulty with balance.[2] These symptoms are…
12q14 microdeletion syndrome
12q14 microdeletion syndrome is a genetic syndrome caused by a missing piece of chromosome 12. The signs and symptoms depend on the size of the missing piece and the genes involved, but generally include growth delay, short stature and feeding difficulties. When this syndrome is inherited, it is passed on in a dominant pattern. It…
Acanthoma
An acanthoma is a small, reddish bump that usually develops on the skin of an older adult. There are several types of acanthoma, including “acantholytic”, “epidermolytic”, “clear cell“, and “melanoacanthoma”.[1] Though most individuals have only one acanthoma, there have been rare reports of individuals who have developed many. The exact cause of acanthoma is not known; it…
Dermatopathia pigmentosa reticularis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 86920 Definition A rare, genetic, ectodermal dysplasia characterized by a widespread, early-onset, reticulate hyperpigmentation that persists throughout life, mild, diffuse non-cicatricial alopecia, and onychodystrophy. There are no dental anomalies. Patients may also present with adermatoglyphia,…
Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
Adult-onset immunodeficiency with antiinterferon-gamma autoantibodies is an immunodeficiency disorder. It is associated with susceptibility to disseminated infections (dispersed throughout the body) caused by organisms that typically affect only people with weak immune systems (opportunistic pathogens).[1] People with this disorder produce higher amounts of anti-interferon-gamma autoantibodies. These are specific immune system proteins that mistakenly target a person’s…
Acquired hemophilia A
Acquired hemophilia A is a bleeding disorder that interferes with the body’s blood clotting process. Although the condition can affect people of all ages, it generally occurs in older people (the median age of diagnosis is between 60 and 67 years). Signs and symptoms include prolonged bleeding, frequent nosebleeds, bruising throughout the body, solid swellings…
Tyrosine-oxidase temporary deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3402 Definition Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate…
Keratoderma palmoplantar deafness
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2202 Definition Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease…
Acromesomelic dysplasia Hunter Thompson type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 968 Definition A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal…
Lupus
Lupus is an autoimmune disease that can affect almost every organ in the body. Symptoms of lupus can range from very mild to life-threatening. There are three main types of lupus; systemic lupus erythematosus, discoid lupus, and drug-induced lupus.[1] Symptoms may include pain or swelling in joints, muscle pain, fever, red rashes, most often on the face (also…
Actinomycosis
Actinomycosis is a bacterial infection that occurs most often in the face and neck. Symptoms of actinomycosis include a neck mass, jaw or face pain, and formation of pockets of pus (abscess). When actinomycosis occurs in other parts of the body, symptoms can include cough, chest or stomach pain, fever, and weight loss. It is…
Acute zonal occult outer retinopathy
Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. People with this condition may experience a sudden onset of photopsia (the presence of perceived flashes of light) and an area of partial vision loss (a blindspot). Other symptoms may include “whitening of vision” or blurred vision. Although anyone can be…
Adenylosuccinase deficiency
Adenylosuccinase deficiency impacts the way the body breaks down certain chemicals and results in damage to the nervous system. There are several types of adenylosuccinase deficiency. Symptoms vary greatly from person to person. In general, adenylosuccinase deficiency causes intellectual and movement disabilities, autistic features, epilepsy, low muscle tone, and feeding problems. In the most severe form…
Lhermitte-Duclos disease
Lhermitte-Duclos disease (LDD) is a very rare, benign (non-cancerous) brain tumor, called a dysplastic gangliocytoma of the cerebellum, that is characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure. LDD manifests most commonly in the third and fourth decades of life. Symptoms may include headache, nausea, cerebellar dysfunction, hydrocephalus, ataxia…
Autosomal dominant vitreoretinochoroidopathy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3086 Definition A rare, genetic, vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the…
Albinism deafness syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 998 Definition A rare disorder characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness…
Alpha-thalassemia x-linked intellectual disability syndrome
Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is a genetic condition that causes intellectual disability, muscle weakness (hypotonia), short height, a particular facial appearance, genital abnormalities, and possibly other symptoms. It is caused by mutations in the ATRX gene and is inherited in an x-linked way. Treatment includes regular visits to the doctor to monitor growth and intellectual…
Somatostatinoma
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FACES syndrome
FACES syndrome, also known as Friedman-Goodman syndrome, is a condition that is characterized by unique Facial features, Anorexia, Cachexia (body wasting) and Eye and Skin lesions. The pattern of inheritance and underlying genetic cause of FACES syndrome has not yet been established. FACES syndrome has only been reported in three members of the same family.[1]
Annular lichen planus
Annular lichen planus (LP) is a rare form of lichen planus, which is a condition that affects the skin and/or mouth. In annular LP, specifically, affected people develop ring-shaped, slightly raised, purple lesions with no central atrophy (tissue breakdown). Purely annular LP is very rare; however, annular lesions occur in approximately 10% of all cases of lichen…
Orthostatic intolerance due to NET deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 443236 Definition A rare, genetic, primary orthostatic disorder characterized by dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with…
Congenital herpes simplex
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 293 Definition Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent foetal infection with herpes virus. This virus causes recurrent cutaneous infections…
Wells-Jankovic syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2815 Definition A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiochokinesia, elevated cerebrospinal fluid…
Danon disease
Danon disease is a rare genetic condition characterized by weakening of the heart muscle (cardiomyopathy), weakening of the muscles used for movement (skeletal muscles myopathy), and intellectual disability.[1][2] This condition is a type of lysosomal storage disorder.[3] Lysosomes are compartments within the cell that use enzymes to break down large molecules into smaller ones that the cell…
Femur bifid with monodactylous ectrodactyly
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1986 Definition A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Epidemiology Approximately 200 cases have been reported worldwide. Clinical description The malformation…
Autoimmune polyglandular syndrome type 3
Autoimmune polyglandular syndrome (APS) type 3 is an autoimmune condition that affects the body’s endocrine glands. The syndrome, which typically affects women during middle age, results from failure of the glands to produce their hormones. This condition is characterized by autoimmune thyroiditis along with another organ-specific autoimmune disease.[1][2][3] The other autoimmune diseases may include diabetes mellitus, pernicious anemia, vitiligo, alopecia,…
Fetal methylmercury syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1917 Definition A rare disorder characterized by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury. Epidemiology Accidents have…
Autosomal recessive distal renal tubular acidosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 402041 Definition An inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed….
Melhem Fahl syndrome
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Freeman-Sheldon syndrome
Freeman-Sheldon syndrome (FSS) affects the development of the bones, joints, head, and face. Symptoms of FSS are present from birth, and include abnormally flexed joints (joint contractures), spine abnormalities, and a characteristic facial appearance. People with FSS have a small mouth (microstomia) with pursed lips, giving the appearance of a “whistling face”. In addition, they may…
Prolactinoma
Prolactinoma is a tumor of the pituitary gland that causes increased levels of the hormone prolactin. This hormone normally stimulates breast development and milk production in women. Prolactinoma can affect men or women. In women, the symptoms may include unusual milk production (galactorrhea) when not pregnant or nursing and having no menstrual cycles (amenorrhea). In…
Ganglioglioma
A ganglioglioma is a rare type of brain tumor, accounting for approximately 1% of all brain tumors.[1] Gangliogliomas occur when a single cell in the brain starts to divide into more cells, forming a tumor.[2] This can occur when the cell randomly acquires changes (mutations) in genes that regulate how a cell divides. Most gangliogliomas grow slowly…
Autoimmune atrophic gastritis
Autoimmune atrophic gastritis is a chronic inflammatory disease in which the immune system mistakenly destroys a special type of cell (parietal cells) in the stomach. Parietal cells make stomach acid (gastric acid) and a substance our body needs to help absorb vitamin B12 (called intrinsic factor). The progressive loss of parietal cells may lead to iron deficiency…
Serpiginous choroiditis
Serpiginous choroiditis is a rare inflammatory eye condition that typically develops between age 30 and 70 years.[1] Affected individuals have lesions in the eye that last from weeks to months and involve scarring of the eye tissue.[2] Recurrence of these lesions is common in serpiginous choroiditis. Vision loss may occur in one or both eyes when the macula is involved. [3] Treatment options involve…
Glomus jugulare tumors
A glomus jugulare tumor develops when cells in nerves near the temporal bone of the skull begin to rapidly increase in number, forming a mass. This tumor gets its name from the nerves, called glomus bodies, and their location in a small opening in the temporal bone, known as the jugulare foramen. Glomus jugulare tumors are included in…
Autosomal recessive bestrophinopathy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 139455 Definition A rare retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG). Epidemiology The prevalence of…
Spastic paraplegia 11
Spastic paraplegia 11 (SPG11) is a form of hereditary spastic paraplegia. People with SPG11 experience worsening muscle stiffness leading to eventual paralysis of the lower limbs, as well as a range of other neurologic symptoms that may include intellectual disability, speech difficulties (dysarthria), and reduced bladder control.[1] Additionally, the tissue connecting the left and right halves…
Gray zone lymphoma
Gray zone lymphoma is a rare type of lymphoma, cancer of a part of the immune system called the lymph system. It is called “gray zone” lymphoma because it has features intermediate between classical Hodgkin lymphoma and diffuse large B-cell lymphoma (DLBCL), but cannot be assigned specifically to either type.[1][2] In many cases, the original diagnosis…
Hepatoerythropoietic porphyria
Hepatoerythropoietic porphyria (HEP) affects the skin and is due to a build-up of damaging chemicals in the body. Symptoms usually begin in infancy and include extreme sun sensitivity, extra body hair, discolored teeth, and anemia. Over time, people with HEP may lose skin, bone or develop scarring in sun-exposed areas. HEP is caused by a…
Bare lymphocyte syndrome 2
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 572 Definition A rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The…
Seborrheic keratosis
Seborrheic keratosis is a benign (non cancerous) tumor found on the skin. Seborrheic keratoses are the most common benign tumor in older individuals.[1] They usually appear as multiple small, flat or raised growths that range in color from white to black and are commonly found on the face, neck, chest, shoulders, and hands.[1][2] They usually do…
Nonspherocytic hemolytic anemia due to hexokinase deficiency
Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare condition mainly characterized by severe, chronic hemolysis, beginning in infancy.[1] Approximately 20 cases of this condition have been described to date.[2] Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more…
Collecting duct carcinoma
Collecting duct carcinoma (CDC) is a rare and aggressive form of kidney cancer that begins in the collecting duct of the kidney.[1] Many people with CDC have no signs or symptoms until the cancer is at an advanced stage.[2] Symptoms may include flank pain, unexplained weight loss, or blood in the urine. Although it can…
Holoprosencephaly
Holoprosencephaly is an abnormality of brain development in which the brain doesn’t properly divide into the right and left hemispheres. The condition can also affect development of the head and face. There are 4 types of holoprosencephaly, distinguished by severity. From most to least severe, the 4 types are alobar, semi-lobar, lobar, and middle interhemispheric variant…
Benign hereditary chorea
Benign hereditary chorea (BHC) is a rare movement disorder that begins in infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and…
Congenital generalized lipodystrophy
Congenital generalized lipodystrophy is a rare disease characterized by a generalized lack of fat (adipose tissue) in the body. It is part of a group of diseases known as lipodystrophies. Signs and symptoms are noticed from birth (congenital) or early childhood and include high levels of fats (triglycerides) in the blood (hypertriglyceridemia) and insulin resistance…
N-acetylglutamate synthase deficiency
N-acetylglutamate synthase deficiency (NAGS) is type of metabolic disorder that affects the processing of proteins and removal of ammonia from the body. When proteins are processed by the body, ammonia is formed. Individuals with NAGS are not able to remove ammonia from the body and have symptoms due to toxic levels of ammonia that build up…
Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency (SAHH deficiency) is a muscle disease associated with high blood levels of methionine and creatine kinase (CK). The main symptoms are psychomotor delay, behavioral disorders, severe myopathy, and delayed myelination from birth. Myelin is the layer covering the axons of nerves and plays an important role in nerve impulse conduction. SAHH deficiency is caused by…
Van den Ende Gupta syndrome
Van den Ende Gupta syndrome is present at birth and affects the facial features and skeletal system. Symptoms of Van den Ende Gupta syndrome include underdeveloped eyelids and jaw bones; long and bent fingers; cleft palate; and other bone abnormalities. Intelligence is average. Very little is known about how this condition changes over time. Van…
Ichthyosis-intellectual disability-dwarfism-renal impairment
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2278 Definition Ichthyosisintellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive. Visit the…
Punctate palmoplantar keratoderma type I
Punctate palmoplantar keratoderma type I is a rare condition that affects the skin. It is a sub-type of punctate palmoplantar keratoderma.[1][2][3] Signs and symptoms typically begin in early adolescence or later and include hard, round bumps of thickened skin on the palms of the hands and soles of the feet. These bumps can cause pain…
Intravascular papillary endothelial hyperplasia
Intravascular papillary endothelial hyperplasia (IPEH) is a non-cancerous tumor that occurs due to the overgrowth of the cells that line the blood vessels. Symptoms of IPEH may include a soft mass under the skin and reddish-blue coloring on the skin. Other symptoms may depend on the location of the IPEH. The most common areas of…
Rare Pulmonology News