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Deep Learning Technology: Sebastian Arnold, Betty van Aken, Paul Grundmann, Felix A. Gers and Alexander Löser. Learning Contextualized Document Representations for Healthcare Answer Retrieval. The Web Conference 2020 (WWW'20)
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Corneodermatosseous syndrome (also known as "CDO syndrome") is an autosomal dominant condition with onset in infancy, characterized by corneal dystrophy, photophobia, diffuse palmoplantar keratoderma, distal onycholysis, skeletal abnormalities, with brachydactyly, short stature, and medullary narrowing of digits.
This is rare and is usually due to mutations in the R-spondin 4 (RSPO4) gene which is located on the short arm of chromosome 20 (20p13). Clinically it is manifest by the absence (anonychia) or hypoplasia (hyponuchia) of finger- and/or toenails.
Confluent and reticulated papillomatosis of Gougerot and Carteaud (also known as "Confluent and reticulated papillomatosis," "CRP", "CARP", "Familial cutaneous papillomatosis," and "Familial occurrence of confluent and reticulated papillomatosis") is an uncommon but distinctive acquired ichthyosiform dermatosis characterized by persistent dark, scaly, papules and plaques that tend to be localized predominantly on the central trunk.
Anonychia is the absence of nails, an anomaly, which may be the result of a congenital ectodermal defect, ichthyosis, severe infection, severe allergic contact dermatitis, self-inflicted trauma, Raynaud phenomenon, lichen planus, epidermolysis bullosa, or severe exfoliative diseases.
Cooks syndrome is a hereditary disorder which is characterized in the hands by bilateral nail hypoplasia on the thumb, index finger, and middle finger, absence of fingernails (anonychia) on the ring finger and little finger, lengthening of the thumbs, and bulbousness of the fingers. In the feet, it is characterized by absence of toenails and absence/hypoplasia of the distal phalanges. In the second study of this disorder, it was found that the intermediate phalanges, proximal phalanges, and metacarpals were unaffected.
The disorder was first described by Cooks "et al." in 1985 after being discovered in two generations of one family. It was proposed that the inheritance of the disorder is autosomal dominant. A second family, this with three affected generations, confirmed that the inheritance of the disorder is autosomal dominant. Although several genetic disorders exist which can cause anonychia and onychodystrophy, such disorders often cause other anomalies such as deafness, mental retardation, and defects of the hair, eyes, and teeth. Cooks syndrome is not known to cause any such anomalies.
In 1999, a pair of siblings was found with brachydactyly type B. Because the disorder primarily affected the nails and distal phalanges, the research group concluded that brachydactyly type B and Cooks syndrome are the same disorder. However, in 2007, a 2-year-old girl was found with symptoms consistent with both brachydactyly type B and Cooks syndrome. It was found that the two syndromes were distinct clinically, radiologically, and genetically.
Henri Gougerot and Alexandre Carteaud originally described the condition in 1927. The cause remains unknown, but the observation that the condition may clear with Minocycline turned attention to an infectious agent. "Actinomycete Dietzia" strain X was isolated from one individual. Other antibiotics found useful include azithromycin, fusidic acid, clarithromycin, erythromycin, tetracycline and cefdinir.
In racquet nails (also known as brachyonychia, nail en raquette, and racquet thumb), the nail plate is flattened, the end of the thumb is widened and flattened, and the distal phalanx is abnormally short. In racquet nails, the width of the nail bed and nail plate is greater than their length. The condition is painless and asymptomatic.
Racquet nails usually occur on one or both thumbs, but may appear on all fingers and toes. It may be genetic, inherited as an autosomal-dominant trait, or acquired. Genetic disorders associated with racquet nail include Larsen syndrome, Brooke–Spiegler syndrome, Rubinstein–Taybi syndrome, Hajdu–Cheney syndrome, cartilage–hair hypoplasia, pycnodysostosis, acrodysostosis, and brachydactylia.
Acquired racquet nail is associated with acroosteolysis and psoriatic arthropathy. Acquired racquet nail may also be diagnostic of bone resorption in hyperparathyroidism.
Racquet nail often presents with other nail conditions such as onycholysis, koilonychia, pachyonychia, Muehrcke's lines, leuconychia, and half-and-half nails. Cosmetic surgery can be used to improve the appearance of the nails.
Adermatoglyphia is an extremely rare genetic disorder which causes a person to have no fingerprints. There are only four known extended families worldwide which are affected by this condition.
In 2011, the description of a case of a person from Switzerland lacking fingerprints as an isolated finding was published. The phenotype was mapped to chromosome 4q22. In the splice-site of a 3' exon of the gene for SMARCAD1-helicase, a point mutation was detected. It results in a shortened form of the skin-specific protein. The heterozygous mode of mutation suggests an autosomal dominant mode of inheritance.
Other conditions can cause a lack of fingerprints, but unlike them, adermatoglyphia has no other side effects. Mutations in helicases are involved in other rare genetic diseases, for instance Werner syndrome.
Congenital onychodysplasia of the index fingers is defined by the presence of the condition at birth, either unilateral or bilateral index finger involvement, variable distortion of the nail or lunula, and polyonychia, micronychia, anonychia, hemionychogryphosis, or malalignment.
- The original paper was
- This condition is also called Iso-Kikuchi syndrome, since Iso was the first author who published it in a Japanese paper.
Neoplasms of the nailbed may often present with paronychia, ingrown nail, onycholysis, pyogenic granuloma, nail-plate dystrophy, longitudinal erythronychia, bleeding, and discolorations. There are various benign and malignant neoplasms that may occur in or overlying the nail matrix and in the nailbed, and symptoms may include pain, itching, and throbbing.
Benign tumors of the nails include verruca, pyogenic granuloma, fibromas, nevus cell nevi, myxoid cysts, angiofibromas (Koenen tumors), and epidermoid cysts.
Squamous cell carcinoma of the nailbed is uncommon, and often mistaken for a pyogenic granuloma initially. Subungual melanoma is frequently diagnosed late in the course of growth.
Benign hereditary chorea (BHC), also known as benign familial chorea, is a rare autosomal dominant neurogenetic syndrome. It typically presents in childhood with isolated chorea. Unlike other neurogenetic causes of chorea such as Huntington's disease, BHC is not progressive, and not associated with cognitive decline or psychiatric problems in the vast majority of cases.
BHC is caused by a single-nucleotide insertion mutation in "TITF1", which encodes thyroid transcription factor 1 (TTF-1). This gene is also known as NK2 homeobox 1 (NKX2-1)
In some cases, additional developmental abnormalities of lung and thyroid tissue are found in BHC, leading to the suggested alternative name "brain-lung-thyroid syndrome".
Isolated congenital asplenia (ICAS) is a rare disease in humans that can cause life-threatening bacterial infections in children due to primary immunodeficiency. The infections can include pneumococal sepsis and meningitis.
ICAS is a ribosomopathy, due to autosomal dominant mutation of the "RPSA" gene on chromosome 3p21. Unlike heterotaxy syndrome, the absent spleen is not associated with other structural developmental defects.
Most instances of onycholysis without a clear cause will heal spontaneously within a few weeks. The most commonly recommended treatment is to keep the nail dry as much as possible and allow the nail to slowly reattach. Trimming away as much loose nail as can be done comfortably will prevent the nail from being pried upwards. Cleaning under the nail is not recommended as this only serves to separate the nail further. Bandages are also to be avoided. When kept dry and away from further trauma, the nail will reattach from the base upward (i.e., from proximal to distal).
If the underlying cause of the condition is not found and the nail continues to detach despite conservative treatment, the nail bed may begin to form a granular layer of abnormal cells on its surface. After six months of detachment, this layer is likely to prevent the adhesion of any new nail tissue, possibly leading to permanent deformity.
Minor degrees of curvature are common. Reports of incidence vary between 1% and 19.5%.
Reoviruses vaccines are advocated (in dams or in broilers) do not entirely solve the problem.
General hygiene and correct breeding conditions (especially correct brooding temperatures) may be efficient, but the disease often disappears as it had appeared, which makes it difficult to appreciate the effectiveness of control measures.
Onycholysis is a common medical condition characterized by the painless detachment of the nail from the nail bed, usually starting at the tip and/or sides. On the hands, it occurs particularly on the ring finger but can occur on any of the fingernails. It may also happen to toenails.
Onycholysis can occur in many conditions, including psoriasis. In thyrotoxicosis it is thought to be due to sympathetic overactivity. It may also be seen in infections or trauma.
Causing agents may include
- viruses : reovirus (often considered as unique cause), adenoviruses, enteroviruses, rotaviruses, parvoviruses.
- bacteria like Escherichia coli, Proteus mirabilis, Enterococcus faecium, Staphylococcus cohnii, Clostridium perfringens, Bacteroides fragilis and Bacillus licheniformis, often isolated in affected birds.
Warty dyskeratoma, also known as an Isolated dyskeratosis follicularis, is a benign epidermal proliferation with distinctive histologic findings that may mimic invasive squamous cell carcinoma and commonly manifests as an umbilicated (Having a central mark or depression resembling a navel) lesion with a keratotic plug, WD have some histopathologic similarities to viral warts but it's not caused by HPV and the majority of these lesions display overall histopathologic features consistent with a follicular adnexal neoplasm. usually limited to the head, neck, scalp or face and vulva. Lesions are generally and sporadic and may be associated with a follicular unit. Oral involvement, particularly the hard palate, and genital involvement have been reported. it can also be thought of as one of the manifestations of focal acantholytic dyskeratosis, an epidermal reaction pattern that can be seen in several disorders, including Darier's disease and Grover's disease. But the main Difference between Darier disease and Warty dyskeratoma, is that Darier disease inherited dermatosis (autosomal dominant) consisting of multiple keratotic papules on the face, trunk, and extremities, while WD occurs as an isolated, noninherited, single keratotic nodule mainly confined to the head and neck as mentioned earlier.
Warty dyskeratoma must be differentiated from vulvar dysplasia, Bowenoid papulosis, squamous carcinoma, condyloma, and other viral-induced squamous lesions.
The causes of nail psoriasis are unknown. It has been suggested that fungi may play a role.
Clinodactyly is an autosomal dominant trait that has variable expressiveness and incomplete penetrance.
Clinodactyly can be passed through inheritance and presents as either an isolated anomaly or a component manifestation of a genetic syndrome. Many syndromes are associated with clinodactyly, including Down Syndrome, Turner syndrome, Aarskog syndrome, Carpenter syndrome, Seckel syndrome, Cornelia de Lange syndrome, orofaciodigital syndrome 1, 13q deletion syndrome, XXYY syndrome and Silver–Russell syndrome.
When identified prenatally, for example during obstetric ultrasonography, it may be an indication for intrauterine sampling for fetal chromosome analysis as it is statistically correlated with increased risk of chromosome aberration in the fetus.
Prevalence is estimated to be 0.005%. The age of onset has been found to be under 15 years in 40% of cases while it is between 10 and 14 years in one third of the cases. Females outnumber males, 4 to 1. Only 3% have attacks after age 52.
Psoriatic nails are characterized by a translucent discolouration in the nail bed that resembles a drop of oil beneath the nail plate. Early signs that may accompany the "oil drop" include thickening of the lateral edges of the nail bed with or without resultant flattening or concavity of the nail; separation of the nail from the underlying nail bed, often in thin streaks from the tip-edge to the cuticle; sharp peaked "roof-ridge" raised lines from cuticle to tip; or separation of superficial layers of the nail followed by loss of patches of these superficial layers, leaving thin red nails beneath; or nail pitting–punctate changes along the nail plate surface.
Basophilia as an isolated finding is uncommon. However it is a common feature of myeloproliferative disorders and particularly prominent in chronic myelogenous leukemia.
Conditions Associated with Increased Numbers of Blood Basophils
- Allergy or inflammation
1. Ulcerative colitis
2. Drug, food, inhalant hypersensitivity
3. Erythroderma, urticaria
4. Juvenile rheumatoid arthritis
- Endocrinopathy
1. Diabetes mellitus
2. Estrogen administration
3. Hypothyroidism (myxedema)
- Infection
1. Chicken pox
2. Influenza
3. Smallpox
4. Tuberculosis
- Iron deficiency
- Exposure to ionizing radiation
- Neoplasia
1. "Basophilic leukemia" (see text)
- Myeloproliferative neoplasms (especially chronic myelogenous leukemia; also polycythemia vera, primary myelofibrosis, essential thrombocythemia)
- Carcinoma
Basophilia is a condition where the basophil quantity is abnormally elevated (more than 10 basophils per liter of blood). Basophilia is associated with pruritus (itching) due to the release of histamine.