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Autosomal recessive axonal neuropathy with neuromyotonia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 324442DefinitionA rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory, polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic…
Quinquaud folliculitis decalvans
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 346 Definition A rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of…
Fryns smeets thiry syndrome
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Ataxia hypogonadism choroidal dystrophy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1180 Definition A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up…
Richards-Rundle syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1399 Definition Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or…
Gaucher disease type 3
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 77261 Definition Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type…
Dianzani autoimmune lymphoproliferative syndrome
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Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2
Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 (SMALED2) is a rare neurological disease characterized by early-childhood onset of muscle weakness and loss of muscle tissue (muscle atrophy), mostly affecting the muscles of the thighs. It is a subtype of the group of diseases known as spinal muscular atrophy.[1][2][3] Symptoms include delayed walking, waddling gait,…
Spastic paraplegia 17
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100998 Definition A complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. Association with hand muscles amyotrophy typical….
OPA3 defect
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 67047 Definition 3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria. Epidemiology The vast majority of reported cases involved the Iraqi-Jewish population,…
Torticollis keloids cryptorchidism renal dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3341 Definition Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism…
Irons Bhan syndrome
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Hemoglobin E disease
Hemoglobin E (HbE) disease is a mild, inherited blood disorder characterized by an abnormal form of hemoglobin, called hemoglobin E. People with this condition may have very mild anemia, but the condition typically does not cause any symptoms. It is inherited in an autosomal recessive manner and is caused by a mutation in the HBB gene. The mutation that causes hemoglobin…
Bangstad syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1227 Definition Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH,…
Hepatocyte nuclear factor 1ß (HNF1ß)–associated disease
Hepatocyte nuclear factor 1 Beta-associated diseases (HNF1B-associated diseases) are a group of genetic conditions that affect the kidney as well as other organ systems.[1][2] The most common symptoms are associated with kidney abnormalities. Other signs and symptoms may include diabetes at a young age, genital abnormalities, and problems with pancreas and liver function. Not everyone…
Renier Gabreels Jasper syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93975 Definition An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). Epidemiology Prevalence is unknown but the syndrome…
Battaglia-Neri syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1948 Definition Epilepsymicrocephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once,…
Severe achondroplasia with developmental delay and acanthosis nigricans
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85165 Definition Severe achondroplasiadevelopmental delayacanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures…
Beemer Ertbruggen syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1237 Definition Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad…
McKusick Kaufman syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2473 Definition McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations. Visit the Orphanet disease page…
Myosin storage myopathy
Myosin storage myopathy is an inherited condition that affects the muscles. Signs and symptoms generally begin during infancy or early childhood; however, some affected people may not develop symptoms until early adulthood and there are even reports of people who are asymptomatic into their 40s. Myosin storage myopathy is primarily characterized by muscle weakness with…
Bilateral frontoparietal polymicrogyria
Bilateral frontoparietal polymicrogyria (BFPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). BFPP specifically affects the frontal and parietal lobes on both sides of the brain (bilateral). Signs and symptoms typically include moderate to severe intellectual disability, developmental delay, seizures, cerebellar ataxia, strabismus, and dysconjugate gaze (eyes…
Shigellosis
Shigellosis is a disease caused by a group of bacteria called Shigella. Shigella is very contagious. Shigella germs are present in the stools of infected individuals for up to two weeks after symptoms have resolved. Individuals may be exposed through direct contact with an infected person or through contaminated food, water (both drinking and recreational water),…
Nephrocalcinosis
Nephrocalcinosis is a disorder that occurs when too much calcium is deposited in the kidneys. It commonly occurs in premature infants. Individuals may not have symptoms or may have symptoms related to the condition causing nephrocalcinosis. If kidney stones are present, symptoms may include blood in the urine, fever and chills, nausea and vomiting, and severe…
Birk-Barel syndrome
Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the…
Spastic paraplegia 25
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101005 Definition Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs…
Hypoxanthine guanine phosphoribosyltransferase deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 206428 Definition Hypoxanthineguanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency. Epidemiology Prevalence…
Chondrodysplasia Blomstrand type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 50945 Definition Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality. Epidemiology To date, less than 10 cases have…
Immunotactoid glomerulopathy
Immunotactoid glomerulopathy, also known as glomerulonephritis with organized monoclonal microtubular immunoglobulin deposits (GOMMID), is a very uncommon cause of glomerular disease. It is related to a similar disease known as fibrillary glomerulopathy, which is more common. Both disorders probably result from deposits derived from immunoglobulins, but in most cases the cause is idiopathic (unknown). On electron…
Brachydactyly long thumb type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2946 Definition Brachydactyly long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder…
Thoracic dysplasia hydrocephalus syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1861 Definition Thoracic dysplasiahydrocephalus syndrome is an extremely rare primary bone dysplasia syndrome characterized by short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus, and developmental delay….
MEHMO syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85282 Definition MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died…
Vitiligo
Vitiligo is a relatively common pigmentation disorder in which the skin’s pigment-making cells (melanocytes) are lost or destroyed. As a result, well-defined white patches appear on the skin. Patches may occur on one section or all over the body and may join together (coalesce).[1] Some people also have loss of pigment in patches of hair…
Secretory breast carcinoma
Secretory breast carcinoma (SBC) is a very rare, slow-growing type of breast cancer. It was originally referred to as “juvenile breast carcinoma” because it was first recognized in children and adolescents.[1][2] However, many cases reported in the last several decades have occurred in adults of all ages.[1][3] SBC may occur in males or females but like…
Xeroderma pigmentosum
Xeroderma pigmentosum (XP) causes the skin and eyes to be extra sensitive to exposure to ultraviolet radiation from the sun and other sources. Symptoms begin in early childhood. People with XP can develop bad sunburns, blistering, and freckling in response to sunlight. The eyes may develop light sensitivity, corneal clouding, and swelling. Some people with XP…
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is an inherited disorder in which damage to the small blood vessels in the brain leads to stroke and other impairments.[1][2][3] Individuals with CARASIL usually develop symptoms between 20 and 30 years of age.[3] Symptoms may include: muscle stiffness, personality changes, and memory loss. People…
RFT1-CDG (CDG-In)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 244310 Definition RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a…
Shprintzen omphalocele syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3164 Definition Shprintzen?Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities….
LEOPARD syndrome
LEOPARD syndrome is an inherited condition characterized by abnormalities of the skin, heart, inner ears, and genitalia. The acronym LEOPARD describes the features of the syndrome:(L)entigines dark spots on the skin(E)lectrocardiographic conduction defects abnormalities of the electrical activity of the heart (O)cular hypertelorism widely spaced eyes(P)ulmonary stenosis – obstruction of the normal outflow of blood from the right ventricle of the heart…
Lemierre syndrome
Lemierre syndrome is a rare and potentially life-threatening complication of bacterial infections that usually affects previously-healthy adolescents and young adults. It most commonly develops in association with a bacterial throat infection, but it may develop in association with an infection involving the ears, salivary glands (parotitis), sinuses, or teeth; or in association with an Epstein-Barr…
Cartilage-hair hypoplasia
Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system function (immune deficiency) that can lead to recurrent infections. Signs and symptoms may vary among affected individuals. People with this condition are also at an increased risk of developing cancer,…
Listeria infection
A listeria infection or listeriosis is an infection caused by a bacteria known as Listeria monocytogenes. It mainly affects newborn infants, elderly patients, pregnant women and patients who have low immunity.[1] Listeria can be spread by several methods. A common cause is ingestion (food-borne transmission) of unpasteurized milk or contaminated vegetables. It can also be transmitted from…
Celiac disease
Celiac disease is an autoimmune disorder that damages the small intestine and inhibits absorption of nutrients. People with celiac disease cannot tolerate gluten, a protein in wheat, rye, barley, and in some products such as medicines, vitamins, and lip balms. When affected people eat food with gluten, or use a product with gluten, the immune…
Lymphocytic vasculitis
Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. This disease…
COACH syndrome
COACH syndrome is a condition that mainly affects the brain and liver. Most individuals with COACH syndrome have intellectual disability, liver problems (fibrosis), and difficulty with movement (ataxia). Some may also have an abnormality of the eye (called a coloboma) or abnormal eye movements (such as nystagmus).[1] This condition is inherited in an autosomal recessive manner; 70%…
Madokoro Ohdo Sonoda syndrome
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Cervical hypertrichosis peripheral neuropathy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2218 Definition Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members…
Hypertrophic neuropathy of Dejerine-Sottas
Hypertrophic neuropathy of Dejerine-Sottas (Dejerine-Sottas syndrome) is a term sometimes used to describe a severe, early childhood form of Charcot-Marie-Tooth disease (sometimes called type 3) that is characterized by sensory loss with ataxia in the limbs furthest from the body and pes cavus with progression towards the limbs closest to the body.[1][2][3] Depending on the specific gene that…
Microphthalmia syndromic 4
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85275 Definition Microphthalmia-ankyloblepharonintellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to…
Congenital chloride diarrhea
Congenital chloride diarrhea (CCD) is a lifelong condition that causes large, watery stools (diarrhea) that contain an excess of chloride.[1] Those with CCD have diarrhea even before birth.[2] Signs of CCD before birth may be detected with an ultrasound, and may include an increased amount of amniotic fluid (polyhydramnios) and enlarged (dilated) intestinal loops in…
Van Den Bosch syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3417 Definition Van den Bosch syndrome is characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait…
Chromosome 10p duplication
Chromosome 10p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 10. The severity and the signs and symptoms depend on the size and location of the duplication and which genes are involved. The size of the duplication can range from a tiny piece of the chromosome arm,…
Microcephaly-cardiomyopathy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2515 Definition Microcephalycardiomyopathy syndrome is characterised by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive. Visit…
15q11.2 microdeletion
15q11.2 microdeletion refers to a chromosome abnormality in which a tiny piece of genetic material on the long arm of chromosome 15 (at a location designated q11.2) is missing (deleted). The features of people with a 15q11.2 microdeletion vary widely.[1] The most common features include developmental, motor, and language delays; behavior and emotional problems; attention…
Orofaciodigital syndrome 12
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 141327 Definition Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia),…
Chromosome 3q29 microduplication syndrome
Chromosome 3q29 microduplication syndrome is a rare chromosome abnormality characterized by having an extra copy of material (duplication) on a specific part of the long arm of chromosome 3. The signs and symptoms vary among affected individuals, but the most common features include mild or moderate intellectual disability and microcephaly. The condition may occur for the…
X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2958 Definition An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features. Epidemiology It has been described in eight males from…
Chromosome 6q deletion
Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often…
Steatocystoma multiplex
Steatocystoma multiplex is a condition characterized by numerous skin cysts that tend to develop during puberty. Cysts most often develop on the chest, upper arms and face, but may develop all over the body in some cases. The cysts may become inflamed and cause scarring when they heal. The condition can be caused by mutations in the KRT17…
Microduplication Xp11.22-p11.23 syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 217377 Definition Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females. Epidemiology To date, twelve patients have been described. Clinical description All patients show moderate to severe intellectual deficit…
N syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2608 Definition N syndrome is characterised by intellectual deficit, deafness, ocular anomalies, Tcell leukaemia, cryptorchidism, hypospadias and spasticity. Epidemiology Three cases have been described so far. Etiology Mutations in DNA polymerase alpha, leading to increased…
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