Hunan hand syndrome Other names Chili burn Specialty Dermatology Causes Exposure to capsaicin from improper handling of chili peppers, higher risk from high concentrations of capsaicin Prevention Wearing rubber gloves when preparing or handling chili peppers, especially for superhot chilis Hunan hand syndrome (also known as "Chili burn" [1] ) is a temporary, but very painful, cutaneous condition that commonly afflicts those who handle, prepare, or cook with fresh or roasted chili peppers . [1] It was first described in an eponymous case report in the New England Journal of Medicine in 1981. [2] It occurs when the phytochemical capsaisin , which can be present in very high concentrations in certain varieties of chili peppers , (especially with superhot peppers such as ghost peppers or carolina reapers ) contacts cutaneous free nerve endings which are present in high density in the finger tips of its victims. ... "Multimodal approach for the management of Hunan hand syndrome". Pain Practice . 13 (3): 227–2300. doi : 10.1111/j.1533-2500.2012.00567.x . PMID 22681338 . v t e Chili peppers Capsicum annuum cultivars Aleppo Banana Bell Bird's eye Black Pearl Cascabel Cayenne Cheongyang Chiltepin Cubanelle Chile de árbol Dundicut Espelette Facing Heaven Fish Florina Friggitello Guajillo Guntur Sannam Hungarian wax Jalapeño Korean Medusa New Mexico Big Jim Chimayo Fresno Sandia Santa Fe Grande Padrón Pasilla Peperoncino Pequin Peter Pimiento Piquillo Poblano Serrano Shishito Siling haba Urfa biber Capsicum baccatum cultivars Bishop's crown Lemon drop Peppadew Capsicum chinense cultivars Adjuma Ají caballero Ají dulce Bhut jolokia Carolina Reaper Datil Dragon's Breath Ellachipur Sanman Fatalii Habanero Hainan yellow lantern Infinity Komodo Dragon Madame Jeanette Nagabon Naga Morich Naga Viper Pepper X Red Savina Scotch bonnet Trinidad Moruga scorpion Trinidad Scorpion Butch T Capsicum frutescens cultivars African Birdseye Kambuzi Malagueta Siling labuyo Tabasco pepper Culinary uses Adobada Chili con carne Chili dog Chili pepper paste Chili pepper water Chili powder Chili thread Ema datshi Filfel chuma Gochujang Harissa Nam phrik Peppersoup Piperade Condiments and sauces Biber salçası Chili oil Chili sauce Hot sauce Pepper jelly Pickapeppa Sauce Sriracha sauce Sweet chili sauce Tabasco sauce XO sauce See also Capsaicin Chile Pepper Institute Chilympiad Elephant Pepper Development Trust Hot pepper challenge Hunan hand syndrome Pepper spray Ristra Scoville scale Category This dermatology article is a stub .
A number sign (#) is used with this entry because of evidence that immunodeficiency-centromeric instability-facial anomalies syndrome-3 (ICF3) is caused by homozygous mutation in the CDCA7 gene (609937) on chromosome 2q31. Description Immunodeficiency-centromeric instability-facial anomalies syndrome-3 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. ... For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (242860). Clinical Features Thijssen et al. (2015) reported 5 patients from 4 unrelated families with an immunodeficiency syndrome characterized by recurrent upper respiratory infections and associated with hypo- or agammaglobulinemia with normal B cells.
A number sign (#) is used with this entry because of evidence that orofaciodigital syndrome XVI (OFD16) is caused by homozygous or compound heterozygous mutation in the TMEM107 gene (616183) on chromosome 17p13. Mutation in the TMEM107 gene can also cause Meckel syndrome-13 (MKS13) and Joubert syndrome-29 (JBTS29); see 617562. ... Brain imaging did not show molar tooth sign (MTS), ruling out Joubert syndrome. Lambacher et al. (2016) studied 9-year-old twin girls, born of consanguineous Turkish parents, with OFD16.
Please introduce links to this page from related articles ; try the Find link tool for suggestions. ( February 2017 ) Facial onset sensory and motor neuropathy Other names FOSMN Specialty Neurology Facial Onset Sensory and Motor Neurono [1] pathy syndrome is an extremely rare disease characterised by sensory and motor loss beginning in the face and spreading to involve an increasingly larger area including the upper arms. Details of the disease, and in particular its aetiology, are currently subject to debate, mainly because FOSMN syndrome is so rare. FOSMN was first described in four patients in 2006 [2] and subsequently in a further six patients [3] [4] [5] but so far, these ten represent the only reported cases. ... Neurophysiology studies show a generalized sensory motor neuronopathy which is most severe cranially. [2] These features lead FOSMN syndrome to be classed as one of the 'syringomyelia-like' syndromes, a group which also includes Tangier disease . [ citation needed ] Cause [ edit ] An immune-mediated component to FOSMN has been suggested based on the response to treatment but so far this has only been described in a single patient. [4] The specific neuronal subtypes involved in the disease are not clear. ... Cros Facial onset sensory and motor neuronopathy (FOSMN syndrome): a novel syndrome in neurology Brain (2006) 129(12): 3384-3390 ^ Isoardo, G. and Troni, W. (2008), Sporadic bulbospinal muscle atrophy with facial-onset sensory neuropathy. ... Facial onset sensory and motor neuronopathy (FOSMN) syndrome responding to immunotherapies.
Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease.
Facial onset sensory and motor neuronopathy (FOSMN) is a rare and slowly progressive motor neuron disorder . Affected people initially experience facial tingling and numbness which eventually spread to the scalp, neck, upper trunk and upper limbs. These sensory abnormalities are later followed by the onset of motor symptoms such as cramps, muscle twitches, difficulty swallowing, dysarthria, muscle weakness and atrophy. The hallmark of FOSMN is a reduced or absent corneal reflex (the reflex to blink when something touches the eye). The underlying cause is currently unknown. Most cases appear to occur sporadically in people with no family history of the condition.
A rare, genetic, autosomal recessive spastic ataxia disease characterized by onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy.
A number sign (#) is used with this entry because of evidence that autosomal recessive spastic ataxia-4 (SPAX4) is caused by homozygous mutation in the MTPAP gene (613669) on chromosome 10p11. One such family has been reported. For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (108600). Clinical Features Crosby et al. (2010) reported a large consanguineous family of Old Order Amish origin in which 7 individuals had early childhood onset of a slowly progressive neurodegenerative disorder characterized primarily by cerebellar ataxia, spastic paraparesis, dysarthria, and optic atrophy. At the time of the report, the patients ranged in age from 2 to 27 years. Most patients had delayed walking with frequent falls and delayed speech development.
A rare, genetic, ophthalmic disorder characterized by the association of lens (ectopia and cataracts) and retinal (generalized tapetoretinal dystrophy and retinal detachment) anomalies, and variable myopia. Microcephaly and intellectual disability has been reported in some patients.
A rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.
A disorder that is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.
A rare systemic autoimmune disease characterized by the presence of signs and symptoms suggestive of a systemic autoimmune disease that do not fulfil the existing classification criteria. The main clinical manifestations are arthritis with arthralgia, Raynaud's phenomenon, xerostomia, xerophthalmia, and leukopenia, while neurologic or renal involvement are virtually absent.
It is diagnosed when there is evidence of an existing autoimmune condition which does not meet the criteria for any specific autoimmune disease, such as systemic lupus erythematosus or scleroderma . [1] Latent lupus and incomplete lupus are alternative terms that have been used to describe this condition. [2] The term is sometimes used interchangeably with mixed connective tissue disease , an overlap syndrome. However, MCTD is thought by some researchers to be a clinically distinct entity and is strongly associated with the presence of high titers of ribonucleoprotein (RNP) antibodies. [3] It is estimated that up to 25 percent of people with systemic autoimmune disease could be considered to have UCTD. [4] Contents 1 Signs and symptoms 2 Diagnosis 3 Treatment 4 Prognosis 5 References 6 External links Signs and symptoms [ edit ] Disease presentation varies widely from patient to patient, as UCTD is by definition nonspecific. [5] Symptoms typically include constitutional complaints that are common to connective tissue diseases such as fatigue , a general sense of feeling unwell , and fever . [6] Other symptoms associated with UCTD include: [7] dry eyes dry mouth hair loss joint inflammation joint pain oral ulcers positive ANA test raynaud's phenomenon sun sensitive rash Clinical presentation in some people diagnosed with UCTD may show: [8] a decrease in white blood cell count in the blood anemia abnormal nerve sensations in the extremities inflammation of the lining of the heart and/or lungs a decrease in platelet count Lung involvement, such as nonspecific interstitial pneumonia , is a possible disease complication. [4] Diagnosis [ edit ] There is no official diagnostic criteria for UCTD.
A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases.
In 4 sibs (one named Nathalie) of a Dutch family reported by Cremers et al. (1975), deafness and cataract were associated with muscular atrophy, retardation in growth and sexual development, and electrocardiographic abnormalities. One was male and 3 female. One had Perthes disease and one had Scheuermann disease. Two were young adults at the time of study. GU - Sexual development retarded Inheritance - Autosomal recessive Growth - Growth retardation Cardiac - Abnormal EKG HEENT - Deafness - Cataract Muscle - Muscular atrophy ▲ Close
Not to be confused with Sudden arrhythmic death syndrome . Sudden Death Syndrome (SDS), a disease in soybean plants, quickly spread across the southern United States in the 1970s, eventually reaching most agricultural areas of the US. ... Retrieved 2016-11-16 . ^ a b c d "Sudden Death Syndrome" . WISCONSIN FIELD CROPS PATHOLOGY . ... Retrieved 2020-12-10 . ^ a b "Sudden Death Syndrome of Soybean" . cropprotectionnetwork.org . Retrieved 2020-12-10 . ^ a b c "Crop Focus: Sudden Death Syndrome of Soybeans" (PDF) . www.pioneer.com . ... Retrieved 2020-12-10 . ^ "Sudden death syndrome on soybean" . extension.umn.edu .
Posterior reversible encephalopathy syndrome Other names Reversible posterior leukoencephalopathy syndrome (RPLS) Posterior reversible encephalopathy syndrome visible on magnetic resonance imaging as multiple cortico-subcortical areas of T2-weighted hyperintense (white) signal involving the occipital and parietal lobes bilaterally and pons . ... "Posterior reversible encephalopathy syndrome". Current Opinion in Neurology . 32 (1): 25–35. doi : 10.1097/WCO.0000000000000640 . ... "Posterior reversible encephalopathy syndrome" . Journal of Neurology . 264 (8): 1608–1616. doi : 10.1007/s00415-016-8377-8 . ... "Posterior reversible encephalopathy syndrome: A review with emphasis on neuroimaging characteristics". ... "Controversy of posterior reversible encephalopathy syndrome: what have we learnt in the last 20 years?".
In primary hypogonadism the LH and/or FSH are usually elevated, meaning the problem is in the testicles (hyper-gonatropic hypogonadism); whereas in secondary hypogonadism, both are normal or low, suggesting the problem is in the brain (hypo-gonatropic hypogonadism). [ citation needed ] Affected system [ edit ] Hypogonadism resulting from defects of the gonads is traditionally referred to as "primary hypogonadism". Examples include Klinefelter syndrome and Turner syndrome . Mumps is known to cause testicular failure, and in recent years has been immunized against in the US. ... Noonan syndrome , Turner syndrome (45X,0), Klinefelter syndrome (47XXY), XY with SRY gene -immunity [ citation needed ] Secondary - defect lies outside of the gonad: e.g. Polycystic ovary syndrome , and Kallmann syndrome , also called hypogonadotropic hypogonadism. [3] Hemochromatosis and diabetes mellitus can be causes of this as well. [ citation needed ] Congenital vs. acquired [ edit ] Examples of congenital causes of hypogonadism, that is, causes that are present at birth: [ citation needed ] Turner syndrome and Klinefelter syndrome . ... Examples of hypogonadism that affect fertility more than hormone production are Klinefelter syndrome and Kartagener syndrome . Signs and symptoms [ edit ] Women with hypogonadism do not begin menstruating and it may affect their height and breast development . ... MedlinePlus Encyclopedia : Hypogonadism Hypogonadism at eMedicine Classification D ICD - 10 : E28.3 , E29.1 , E23.0 ICD - 9-CM : 257.2 OMIM : 146110 MeSH : D007006 DiseasesDB : 21057 External resources MedlinePlus : 001195 eMedicine : article/922038 GeneReviews : Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency Overview v t e Gonadal disorder Ovarian Polycystic ovary syndrome Premature ovarian failure Estrogen insensitivity syndrome Hyperthecosis Testicular Enzymatic 5α-reductase deficiency 17β-hydroxysteroid dehydrogenase deficiency aromatase excess syndrome Androgen receptor Androgen insensitivity syndrome Familial male-limited precocious puberty Partial androgen insensitivity syndrome Other Sertoli cell-only syndrome General Hypogonadism Delayed puberty Hypergonadism Precocious puberty Hypoandrogenism Hypoestrogenism Hyperandrogenism Hyperestrogenism Postorgasmic illness syndrome Cytochrome P450 oxidoreductase deficiency Cytochrome b5 deficiency Androgen-dependent condition Aromatase deficiency Complete androgen insensitivity syndrome Mild androgen insensitivity syndrome Hypergonadotropic hypogonadism Hypogonadotropic hypogonadism Fertile eunuch syndrome Estrogen-dependent condition Premature thelarche Gonadotropin insensitivity Hypergonadotropic hypergonadism
CHH is divided into 2 subtypes depending on the condition of the olfactory system, anosmic HH ( Kallman syndrome ) and normosmic HH. [4] AHH is an acquired form of the disease often occurring after sexual maturation and is not related to genetic defects. [3] Pathogenesis [ edit ] CHH is a type of HH resulting from the abnormal migration of GnRH neurons during embryonic development. ... Embryonic migration can be affected by several gene mutations including but not limited to, KAL1 , fibroblast growth factor ( FGF8 ), sex determining region Y-Box 10 ( SOX10 ), GNRHR , GNRH1 and KISS1R . [3] Kallmann syndrome results in a loss of smell (anosmia) and is associated with KAL1 mutations. ... Kallmann syndrome can also be shown through MRI imaging with irregular morphology or aplasia of the olfactory bulb and olfactory sulci. ... The mechanism for this reversal is unknown but there is believed to be some neuronal plasticity within GnRH releasing cells. [4] See also [ edit ] Isolated hypogonadotropic hypogonadism Hypergonadotropic hypogonadism Kallmann syndrome Hypothalamic–pituitary–gonadal axis GnRH and gonadotropins ( FSH and LH ) androgens and estrogens References [ edit ] ^ a b c d e f Basaria S (2014). ... External links [ edit ] Classification D ICD - 10 : N91.1 External resources MedlinePlus : 000390 v t e Gonadal disorder Ovarian Polycystic ovary syndrome Premature ovarian failure Estrogen insensitivity syndrome Hyperthecosis Testicular Enzymatic 5α-reductase deficiency 17β-hydroxysteroid dehydrogenase deficiency aromatase excess syndrome Androgen receptor Androgen insensitivity syndrome Familial male-limited precocious puberty Partial androgen insensitivity syndrome Other Sertoli cell-only syndrome General Hypogonadism Delayed puberty Hypergonadism Precocious puberty Hypoandrogenism Hypoestrogenism Hyperandrogenism Hyperestrogenism Postorgasmic illness syndrome Cytochrome P450 oxidoreductase deficiency Cytochrome b5 deficiency Androgen-dependent condition Aromatase deficiency Complete androgen insensitivity syndrome Mild androgen insensitivity syndrome Hypergonadotropic hypogonadism Hypogonadotropic hypogonadism Fertile eunuch syndrome Estrogen-dependent condition Premature thelarche Gonadotropin insensitivity Hypergonadotropic hypergonadism
Clinical Features In 4 generations of a Mauritian family, Wallis (1988) described ectrodactyly (split-hand/split-foot) and ectodermal dysplasia without clefting of the lip or palate as is seen in the classic EEC syndrome (see 129900). The ectrodactyly ranged from virtual normality to severe tetramelic deficiencies. ... However, the existence of a separate familial syndrome of ectrodactyly-ectodermal dysplasia without clefting had not been described previously. ... The considerable variability in the EEC syndrome makes this by no means certain. Limbs - Variably mild split-hand/split-foot to severe tetramelia Inheritance - Autosomal dominant - ? same as EEC syndrome Skin - Ectodermal dysplasia Hair - Hypotrichosis Mouth - No cleft lip/palate Teeth - Abnormal dentition ▲ Close