Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars. ... Mutations in the gene TGFBR1 are also found in Loeys-Dietz syndrome (LDS; see this term) but the spectrum of TGFBR1 mutations differs and the mutations found in most FSD families have not been associated with a predisposition to aortic aneurysm or other developmental defects that occur in LDS.
The Patched (PTCH; 601309) gene is mutated in Gorlin syndrome (109400); MSSE families were shown to share a common haplotype at 3 novel intragenic PTCH polymorphisms.
Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma (see these terms), such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions .Lesions do not have a predilection for the mucosal surfaces.
Oral galvanism dental electro-galvanism, amalgam disease Pseudomedical diagnosis Risks Nocebo Oral galvanism or amalgam disease was a term for the association of oral or systemic symptoms to either: toxic effects of amalgam fillings; or electric currents between metal in dental restorations and electrolytes in saliva or dental pulp . [1] [2] [3] Any existence of galvanic pain or association of either currents or mercury to presence of symptoms has been disproven. [2] [1] Beyond acute allergic reaction amalgam has not been found to be associated with any adverse effects . [4] Very weak currents have been measured in the mouth of those with multiple dental fillings consisting of different alloys, but there was no association between presence of current and symptoms, [1] and any symptoms associated with currents between oral fillings are likely to be psychosomatic in nature. [2] N [3] [5] Claims of causing a variety of symptoms such as oral discomfort, skin irritation , headaches and a metallic taste in the mouth have been discredited. [1] The condition was originally proposed in 1878, [6] and became well known in Sweden during the 1970s and 80s, because of a campaign to educate about and replace oral amalgam fillings with mercury with other compounds such as ceramic or polymer restorations. [1] See also [ edit ] Culture-bound syndrome Somatization disorder Burning mouth syndrome References [ edit ] ^ a b c d e Swedish Board of Health and Welfare for Statens offentliga utredningar (State Public Reports) (2003-05-01).
Epidemiology Although the prevalence is not really known, around 100 cases have been reported in the literature, indicating that this syndrome is a rare primary immunodeficiency. ... A defect in antibody production to polysaccharides may be associated with the Wiskott-Aldrich syndrome or Common Variable Immuno Deficiency (CVID).
In 20% of cases, trisomy 13 is associated with a Robertsonian translocation in which the supernumerary chromosome 13 becomes attached to another acrocentric chromosome (chromosomes 13, 14, 15, 21 or 22). In rare cases, the syndrome is caused by reciprocal translocation between chromosome 13 and a nonacrocentric chromosome. ... Prognosis Surgical treatment of the malformations does little to improve the poor prognosis associated with this syndrome: half of the infants die within the first month of life and 90% die before 1 year of age from cardiac, renal or neurologic complications.
Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body.
Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit. Epidemiology The syndrome is extremely rare and only four cases have been reported in the literature so far. ... Differential diagnosis The differential diagnosis should include growth hormone deficiency and growth hormone resistance (caused by GH receptor or STAT5b anomalies), growth delay due to insulin-like growth factor I resistance and primary acid-labile subunit (ALS) deficiency syndrome (see these terms), as well as secondary IGF-I deficiency due to nutritional problems.
A number sign (#) is used with this entry because insulin-like growth factor I deficiency is caused by homozygous mutation in the IGF1 gene (147440) on chromosome 12q22. Clinical Features Woods et al. (1996) described a 15-year-old boy, born of consanguineous parents, who had severe prenatal and postnatal growth failure, sensorineural deafness, and mental retardation. He was delivered at 37 weeks' gestation by cesarean section because of poor fetal growth, and showed symmetric growth retardation at birth, with a weight of 1.4 kg, length of 37.8 cm, and head circumference of 27 cm. Severe growth failure continued throughout infancy and childhood. He also had profound bilateral sensorineural deafness and moderately delayed motor development, with behavioral difficulties including hyperactivity and short attention span. Mild facial dysmorphism was also noted. Serum basal and stimulated growth hormone (GH; 139250) levels were increased and serum IGF1 was decreased.
Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss. ... However, molecular genetic analysis in a Tunisian family confirmed the genetic heterogeneity of this syndrome and mapped the gene locus to chromosome 13q11-12.
Clinical Features During a comprehensive clinical and genetic study of families with progressive inherited spinocerebellar degeneration, Harding (1981) described a 'new ataxic syndrome,' occurring at a young age and clinically distinct from Friedreich ataxia (229300).
Carotidynia Drawing from Gray's anatomy with blue arrow showing the bifurcation area which is painful in Carotidynia. Carotidynia is a syndrome characterized by unilateral (one-sided) tenderness of the carotid artery , near the bifurcation. ... PMID 14574303 . ^ Hill LM, Hastings G (1994). "Carotidynia: a pain syndrome". J Fam Pract . 39 (1): 71–5. PMID 8027735 . ^ Biousse V, Bousser MG (1994).
After drug discontinuation , e.g. heroin or fentanyl withdrawal Neuroleptic malignant syndrome ; rare, life-threatening hyperpyrexia caused by antidopaminergic drugs (mostly antipsychotics) e.g. Haloperidol, Chlorpromazine Serotonin syndrome ; excessive serotonergic activity due usually to combined use of serotonergic drugs ( e.g. antidepressants , stimulants , triptans ) 5HT2A agonists , e.g. psilocybin or LSD Malignant hyperthermia Clinical treatment [ edit ] The primary treatment strategy is to eliminate or discontinue the offensive agent.
The antiestrogen withdrawal response is a paradoxical improvement in breast cancer caused by discontinuation of antiestrogen therapy for breast cancer. [1] [2] [3] [4] [5] It has been documented rarely with the selective estrogen receptor modulators (SERMs) tamoxifen and raloxifene . [1] [2] [3] [4] [5] The phenomenon indicates that these agents can somehow result in stimulation of breast cancer tumor progression under certain circumstances. [1] [2] [3] [4] [5] One proposed theory for the mechanism is that the sensitivity of breast cells to estrogens shifts with estrogen deprivation, and upon antiestrogen withdrawal, endogenous estrogen acts in the manner of high-dose estrogen therapy in the breast to inhibit breast cancer growth and induce breast cancer cell death . [1] The antiestrogen withdrawal syndrome is analogous to but less common and well-known than the antiandrogen withdrawal syndrome , a phenomenon in which paradoxical improvement in prostate cancer occurs upon discontinuation of antiandrogen therapy. [4] References [ edit ] ^ a b c d Jordan VC (September 2016).
Springer, New York, NY. https://doi.org/10.1007/978-1-4612-1522-6_6 World Health Organization (WHO) Laboratory Manual for the Examination and Processing of Human Semen, 5th Edition, 2010. v t e Male diseases of the pelvis and genitals Internal Testicular Orchitis Hydrocele testis Testicular cancer Testicular torsion Male infertility Aspermia Asthenozoospermia Azoospermia Hyperspermia Hypospermia Oligospermia Necrospermia Teratospermia Epididymis Epididymitis Spermatocele Hematocele Prostate Prostatitis Acute prostatitis Chronic bacterial prostatitis Chronic prostatitis/chronic pelvic pain syndrome Asymptomatic inflammatory prostatitis Benign prostatic hyperplasia Prostate cancer Seminal vesicle Seminal vesiculitis External Penis Balanoposthitis / Balanitis Balanitis plasmacellularis Pseudoepitheliomatous keratotic and micaceous balanitis Phimosis Paraphimosis Priapism Sexual dysfunction Erectile dysfunction Peyronie's disease Penile cancer Penile fracture Balanitis xerotica obliterans Other Hematospermia Retrograde ejaculation Postorgasmic illness syndrome This article about a disease of the genitourinary system is a stub .
This can lead to stress on tendons , nerves , and ligaments in the hands, and further onto lateral epicondylitis ("tennis elbow"), tendinitis , bursitis , and carpal tunnel syndrome (CTS). Some of the symptoms are described under De Quervain syndrome .
Treatment of MIDD should be initiated at an early stage, since complications may lead to renal disease or MELAS syndrome (myocardial complications, mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes; see this term). Prognosis The prognosis for MIDD is better than that for MELAS syndrome (which occurs mainly in children and has a generally poor prognosis) and for other subtypes of mitochondrial diseases with diabetes.
Diabetes and deafness Other names Diabetes mellitus and deafness, maternally inherited, MIDD, Ballinger-Wallace syndrome, Diabetes mellitus type II with deafness, This condition is inherited via a mitochondrial inheritance manner Diabetes and deafness ( DAD ) or maternally inherited diabetes and deafness ( MIDD ) or mitochondrial diabetes is a subtype of diabetes which is caused from a point mutation at position 3243 in human mitochondrial DNA , which consists of a circular genome. ... External links [ edit ] Classification D ICD - 10 : E13.6 OMIM : 520000 MeSH : C536246 DiseasesDB : 33761 External resources Orphanet : 225 v t e Mitochondrial diseases Carbohydrate metabolism PCD PDHA Primarily nervous system Leigh disease LHON NARP Myopathies KSS Mitochondrial encephalomyopathy MELAS MERRF PEO No primary system DAD MNGIE Pearson syndrome Chromosomal OPA1 Kjer's optic neuropathy SARS2 HUPRA syndrome TIMM8A Mohr–Tranebjærg syndrome see also mitochondrial proteins
Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin, which regulates the amount of sugar in the blood. In MIDD, the diabetes and hearing loss usually develop in mid-adulthood, although the age that they occur varies from childhood to late adulthood. Typically, hearing loss occurs before diabetes. Some people with MIDD develop an eye disorder called macular retinal dystrophy, which is characterized by colored patches in the light-sensitive tissue that lines the back of the eye (the retina ). This disorder does not usually cause vision problems in people with MIDD.
Description Maternally inherited diabetes-deafness syndrome (MIDD) is a mitochondrial disorder characterized by onset of sensorineural hearing loss and diabetes in adulthood. ... The association of diabetes and deafness is observed with Wolfram syndrome (see 222300), Rogers syndrome (249270), and Herrmann syndrome (172500), but all 3 of these disorders have other clinical manifestations. ... No member of the pedigree had ptosis, ophthalmoplegia or muscle weakness, features of other mitochondrial deletion syndromes. Infarcts occurred in the first generation and in 1 member of the second generation. ... The 3243-bp mtDNA mutation has most commonly been observed in patients with MELAS syndrome (540000). The reason for the differences in phenotype was not clear.
Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin, which regulates the amount of sugar in the blood. MIDD is caused by mutations in the MT-TL1 , MT-TK , or MT-TE gene. These genes are found in mitochondrial DNA, which is part of cellular structures called mitochondria. Although most DNA is packaged in chromosomes within the cell nucleus, mitochondria also have a small amount of their own DNA (known as mitochondrial DNA or mtDNA). Because the genes involved with MIDD are found in mitochondrial DNA, this condition is inherited in a mitochondrial pattern, which is also known as maternal inheritance.
Other animals [ edit ] Feline hyperesthesia syndrome is an uncommon but recognized condition in cats , particularly Siamese , Burmese , Himalayan , and Abyssinian cats. ... Paris. p. 338. ^ "Hyperesthesia Syndrome" . Cornell Feline Health Center .
Mojon et al. (2002) found a high prevalence of sleep apnea syndrome (107650) in patients with NAION, which supported previous case reports suggesting that such an association existed. ... The authors stated that sleep apnea syndrome may play an important role in the pathogenesis of NAION.