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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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There is no treatment for the disorder. A number of studies are looking at gene therapy, exon skipping and CRISPR interference to offer hope for the future. Accurate determination through confirmed diagnosis of the genetic mutation that has occurred also offers potential approaches beyond gene replacement for a specific group, namely in the case of diagnosis of a so-called nonsense mutation, a mutation where a stop codon is produced by the changing of a single base in the DNA sequence. This results in premature termination of protein biosynthesis, resulting in a shortened and either functionless or function-impaired protein. In what is sometimes called "read-through therapy", translational skipping of the stop codon, resulting in a functional protein, can be induced by the introduction of specific substances. However, this approach is only conceivable in the case of narrowly circumscribed mutations, which cause differing diseases.
Carbamazepine is at least partly effective at reducing the number or severity of attacks in the majority of PEPD patients. High doses of this drug may be required, perhaps explaining the lack of effect in some individuals. While other anti-epileptic drugs, gabapentin and topiramate, have limited effect in some patients, they have not been shown to be generally effective. Opiate derived analgesics are also largely ineffective, with only sporadic cases of beneficial effect.
Treatment of Roberts syndrome is individualized and specifically aimed at improving the quality of life for those afflicted with the disorder. Some of the possible treatments include: surgery for the cleft lip and palate, correction of limb abnormalities (also through surgery), and improvement in prehensile hand grasp development.
A disease that threatens the eyesight and additionally produces a hair anomaly that is apparent to strangers causes harm beyond the physical. It is therefore not surprising that learning the diagnosis is a shock to the patient. This is as true of the affected children as of their parents and relatives. They are confronted with a statement that there are at present no treatment options. They probably have never felt so alone and abandoned in their lives. The question comes to mind, "Why me/my child?" However, there is always hope and especially for affected children, the first priority should be a happy childhood. Too many examinations and doctor appointments take up time and cannot practically solve the problem of a genetic mutation within a few months. It is therefore advisable for parents to treat their child with empathy, but to raise him or her to be independent and self-confident by the teenage years. Openness about the disease and talking with those affected about their experiences, even though its rarity makes it unlikely that others will be personally affected by it, will together assist in managing life.
The treatment of primary immunodeficiencies depends foremost on the nature of the abnormality. Somatic treatment of primarily genetic defects is in its infancy. Most treatment is therefore passive and palliative, and falls into two modalities: managing infections and boosting the immune system.
Reduction of exposure to pathogens may be recommended, and in many situations prophylactic antibiotics or antivirals may be advised.
In the case of humoral immune deficiency, immunoglobulin replacement therapy in the form of intravenous immunoglobulin (IVIG) or subcutaneous immunoglobulin (SCIG) may be available.
In cases of autoimmune disorders, immunosuppression therapies like corticosteroids may be prescribed.
Bone marrow transplant may be possible for Severe Combined Immune Deficiency and other severe immunodeficiences.
Virus-specific T-Lymphocytes (VST) therapy is used for patients who have received hematopoietic stem cell transplantation that has proven to be unsuccessful. It is a treatment that has been effective in preventing and treating viral infections after HSCT. VST therapy uses active donor T-cells that are isolated from alloreactive T-cells which have proven immunity against one or more viruses. Such donor T-cells often cause acute graft-versus-host disease (GVHD), a subject of ongoing investigation. VSTs have been produced primarily by ex-vivo cultures and by the expansion of T-lymphocytes after stimulation with viral antigens. This is carried out by using donor-derived antigen-presenting cells. These new methods have reduced culture time to 10–12 days by using specific cytokines from adult donors or virus-naive cord blood. This treatment is far quicker and with a substantially higher success rate than the 3–6 months it takes to carry out HSCT on a patient diagnosed with a primary immunodeficiency. T-lymphocyte therapies are still in the experimental stage; few are even in clinical trials, none have been FDA approved, and availability in clinical practice may be years or even a decade or more away.
Treatment is based
on the stage of the disease. Stage 1 does not
require treatment and
should be observed. 4
Neovascularization
(stage 2) responds well
to laser ablation or
cryotherapy.2,4 Eyes
with retinal detachments (stages
3 through 5) require surgery, with
earlier stages requiring scleral
buckles and later stages ultimately
needing vitrectomy. 2,4
More recently, the efficacy of
anti-VEGF intravitreal injections
has been studied. In one study,
these injections, as an in adjunct
with laser, helped early stages
achieve stabilization, but further
investigation is needed.6
In both the classic and vascular form, the treatment is surgical. A partial styloidectomy is the preferred approach. Repair of a damaged carotid artery is essential in order to prevent further neurological complications. Regrowth of the stylohyoid process and relapse being a common occurrence is debateable.
There is no known cure for microcephaly. Treatment is symptomatic and supportive.
Because the CD18 gene has been cloned and sequenced, this disorder is a potential candidate for gene therapy.
Screening for melanoma in FAMMM kindreds should begin at age 10 with a baseline total body skin examination including scalp, eyes, oral mucosa, genital area, and nail, as family members may develop melanoma in their early teens.
At Mayo Clinic, FAMMM patients with a confirmed mutation and family history of pancreatic cancer are offered screening with either high-resolution pancreatic protocol CT, MRI, or endoscopic ultrasound starting at age 50 or 10 years younger than the earliest family member with pancreas cancer. They are counseled on the lack of evidence-based data to support screening, and on the limitations of our current technology to detect a lesion at a stage amenable to therapy.
Lelis syndrome it is a genetic disorder, a rare condition with dermatological and dental findings characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans. Other clinical features may include palmoplantar hyperkeratosis, nail dystrophy, intellectual deficit, disturbances of skin pigmentation (perioral and periorbital hyperpigmentation, vitiligo, and perinevic leukoderma) and hypodontia. Transmission is autosomal recessive.
EEM syndrome (or Ectodermal dysplasia, Ectrodactyly and Macular dystrophy syndrome) is an autosomal recessive congenital malformation disorder affecting tissues associated with the ectoderm (skin, hair, nails, teeth), and also the hands, feet and eyes.
Marie Unna hereditary hypotrichosis (also known as "Marie Unna hypotrichosis") is an autosomal dominant condition characterized by scalp hair that is sparse or absent at birth, with variable coarse, wiry hair regrowth in childhood, and potential loss again at puberty.
Schöpf–Schulz–Passarge syndrome (also known as "eyelid cysts, palmoplantar keratoderma, hypodontia, and hypotrichosis") is an autosomal recessive condition with diffuse symmetric palmoplantar keratoderma, with the palmoplantar keratoderma and fragility of the nails beginning around age 12. In addition to palmoplantar keratoderma, other symptoms include hypodontia, hypotrichosis, nail dystrophies, and eyelid cysts (apocrine hidrocystomas). Patients may also develop syringofibroadenoma and squamous cell carcinomas.
It was characterized in 1971.
It has been associated with WNT10A.
Bazex–Dupré–Christol syndrome (also known as "Bazex syndrome", and "follicular atrophoderma and basal cell carcinomas") is a very rare condition inherited in an X-linked dominant fashion. Physical findings typically include follicular atrophoderma, multiple basal cell carcinomas, hypotrichosis, and hypohidrosis.
This condition should not be confused with the unrelated condition acrokeratosis paraneoplastica of Bazex, which may also be referred to Bazex syndrome.
Hypotrichosis–acro-osteolysis–onychogryphosis–palmoplantar keratoderma–periodontitis syndrome (also known as "HOPP syndrome") is a cutaneous condition characterized by a prominent palmoplantar keratoderma.
Hypotrichosis–lymphedema–telangiectasia syndrome is a congenital syndrome characterized by lymphedema (swelling of tissue due to malformation or malfunction of lymphatics), the presence of telegiectasias (small dilated vessels near the surface of the skin), and hypotrichosis or alopecia (hair loss). Lymphedema usually develops in the lower extremities during puberty. Hair is normal at birth, but usually lost during infancy. Telangiectasias may present on the palms and soles more commonly than on the scalp, legs, and genitalia. The syndrome has been reported in association with both autosomal dominant and autosomal recessive inheritance patterns.
It is associated with a rare mutation of the transcription factor gene "SOX18".
Pure hair-nail type ectodermal dysplasia is a genetic mutation in the "hair matrix and cuticle keratin KRTHB5 gene" that causes ectodermal dysplasia of hair and nail type. Manifestations of this disorder include onychodystrophy and severe hypotrichosis. It represents as an autosomal dominant trait.
2008 and 2012 reviews found little evidence to support the use of special lights or lasers to treat hair loss. Additionally none are approved by the FDA in America for this use. Both laser and lights appear to be safe.
A 2014 and 2016 review found tentative evidence of benefit for lasers. While another 2014 review concluded that the results are mixed, have a high risk of bias, and that its effectiveness is unclear.
Finasteride is used to treat male pattern hair loss. Treatment provides about 30% improvement in hair loss after six months of treatment, and effectiveness only persists as long as the drug is taken. There is no good evidence for its use in women. It may cause gynecomastia, erectile dysfunction and depression.
Dutasteride is used off label for male pattern hair loss.
There is tentative support for spironolactone in women. Due to its feminising side effects and risk of infertility it is not often used by men. It can also cause low blood pressure, high blood potassium, and abnormal heart rhythms. Also, women who are pregnant or trying to become pregnant generally cannot use the medication as it is a teratogen, and can cause ambiguous genitalia in newborn children.
There is tentative evidence for flutamide in women; however, it is associated with relatively high rates of liver problems. Like spironolactone, it is typically only used by women.
Before any treatment of leg telangectasia (spider veins) is considered, it is essential to have duplex ultrasonography, the test that has replaced Doppler ultrasound. The reason for this is that there is a clear association between leg telangectasia (spider veins) and underlying venous reflux. Research has shown that 88-89% of women with telangectasia (spider veins) have refluxing reticular veins close, and 15% have incompetent perforator veins nearby. As such, it is essential to both find and treat underlying venous reflux before considering any treatment at all.
Sclerotherapy is the "gold standard" and is preferred over laser for eliminating telangiectasiae and smaller varicose leg veins. A sclerosant medication is injected into the diseased vein so it hardens and eventually shrinks away. Recent evidence with foam sclerotherapy shows that the foam containing the irritating sclerosant quickly appears in the patient's heart and lungs, and then in some cases travels through a patent foramen ovale to the brain. This has led to concerns about the safety of sclerotherapy for telangectasias and spider veins.
In some cases stroke and transient ischemic attacks have occurred after sclerotherapy. Varicose veins and reticular veins are often treated before treating telangiectasia, although treatment of these larger veins in advance of sclerotherapy for telangiectasia may not guarantee better results. Varicose veins can be treated with foam sclerotherapy, endovenous laser treatment, radiofrequency ablation, or open surgery. The biggest risk, however, seems to occur with sclerotherapy, especially in terms of systemic risk of DVT, pulmonary embolism, and stroke.
Other issues which arise with the use of sclerotherapy to treat spider veins are staining, shadowing, telangetatic matting, and ulceration. In addition, incompleteness of therapy is common, requiring multiple treatment sessions.
Telangiectasias on the face are often treated with a laser. Laser therapy uses a light beam that is pulsed onto the veins in order to seal them off, causing them to dissolve. These light-based treatments require adequate heating of the veins. These treatments can result in the destruction of sweat glands, and the risk increases with the number of treatments.
Ackerman syndrome is a familial syndrome of fused molar roots with a single canal (taurodontism), hypotrichosis, full upper lip without a cupid’s bow, thickened and wide philtrum, and occasional juvenile glaucoma.
It was described by James L. Ackerman, A. Leon Ackerman, and A. Bernard Ackerman.
It can also refer to interstitial granulomatous dermatitis.
EEM syndrome exhibits a combination of prominent symptoms and features. These include: ectodermal dysplasia (systemic malformations of ectodermal tissues), ectrodactyly ("lobster claw" deformity in the hands and feet), macular dystrophy (a progressive eye disease), syndactyly (webbed fingers or toes), hypotrichosis (a type of hair-loss), and dental abnormalities (hypodontia).
The list of treatments mentioned in various sources for presbylarynx includes the following list. Always seek professional medical advice about any treatment or change in treatment plans.
- Voice therapy