Mutations in the AR gene also cause androgen insensitivity syndrome (AIS; 300068). Description Kennedy disease is an X-linked recessive form of spinal muscular atrophy. ... Pearn and Hudgson (1978) described a spinal muscular atrophy syndrome characterized by adolescent onset, gross hypertrophy of the calves, and a slowly progressive clinical course. ... Pathogenesis Warner et al. (1992) studied androgen receptor function in cultured scrotal skin fibroblasts from 8 patients with Kennedy syndrome from 4 families. High-affinity dihydrotestosterone binding was decreased in 3 patients from 1 family similar to values in subjects with androgen resistance syndromes. ... INHERITANCE - X-linked recessive HEAD & NECK Face - Weakness of the facial muscles Mouth - Atrophy and weakness of the tongue, jaw, and throat muscles CHEST Breasts - Gynecomastia ABDOMEN Gastrointestinal - Dysphagia - Choking GENITOURINARY External Genitalia (Male) - Testicular atrophy MUSCLE, SOFT TISSUES - Muscle cramping - Muscle biopsy shows neurogenic atrophy - Secondary myopathic features - Calf hypertrophy (uncommon) NEUROLOGIC Central Nervous System - Atrophy and weakness of limb musculature - Proximal weakness occurs first - Distal weakness occurs later - Atrophy and weakness of the tongue, jaw, and throat muscles - Bulbar weakness - Dysarthria - Fasciculations - Tremor Peripheral Nervous System - Hyporeflexia - Peripheral sensory neuropathy, mild - Decreased sensory nerve action potentials ENDOCRINE FEATURES - Decreased fertility LABORATORY ABNORMALITIES - Increased serum creatine kinase - Decreased or increased serum testosterone - Abnormal lipid profile MISCELLANEOUS - Onset usually between 30 and 50 years of age - Mild symptoms may occur in teenage years - Childhood onset has been reported - Slow progression - Prevalence of 1 in 40,000 - Allelic disorder to androgen insensitivity syndrome (AIS, 300068 ) MOLECULAR BASIS - Caused by a trinucleotide repeat expansion CAG(n) in the androgen receptor gene (AR, 313700.0014 ) ▲ Close
Kennedy disease is a gradually progressive, neuromuscular disorder characterized by wasting of the proximal muscles (those closer to the trunk) and bulbar muscles (those of the face and throat).The condition mainly affects males, with onset between the ages of 30 and 60. Early symptoms may include tremor, muscle cramps, and muscle twitching. This is followed by progressive muscle weakness and wasting, which may manifest in a variety of ways. Affected people may also have gynecomastia, testicular atrophy (reduction in size or function of the testes), and reduced fertility as a result of mild androgen insensitivity. Kennedy disease is caused by a mutation in the androgen receptor ( AR ) gene and is inherited in an X-linked recessive manner.
Aspirin has been linked to Reye's syndrome, a rare but potentially life-threatening condition, in such children. ... This is because aspirin has been linked to Reye's syndrome, a rare but potentially life-threatening condition, in such children. ... This is because aspirin has been linked to Reye's syndrome, a rare but potentially life-threatening condition, in such children.
Histological changes observed include: [1] Villous blunting Crypt hypertrophy Villous fusion Mucosal inflammation However, this procedure is considered too invasive, complex and expensive to be implemented as standard of care. [2] As a result, there are various research efforts underway to identify biomarkers associated with EE, which could serve as less invasive, yet representative, tools to screen for and identify EE from stool samples. [2] In an effort to identify simple, accurate diagnostic tests for EE, the Bill and Melinda Gates Foundation (BMGF) has established an EE biomarkers consortium as part of their Global Grand Challenges initiative (specifically, the Discover Biomarkers of Gut Function challenge). [2] So far, various biomarkers have been selected and studied based on the current understanding of EE pathophysiology: [2] Gut permeability /barrier function Dual sugar permeability ( lactose -to- mannitol ratio) Intestinal inflammation Alpha-1 anti-trypsin Neopterin Myeloperoxidase Exocrine (hormonal) markers Bacterial translocation markers Endotoxin core antibody Markers of systemic inflammation Alpha-1 glycoprotein C-reactive protein (CRP) It is postulated that the limited of understanding of EE is partially due to the paucity of reliable biomarkers, making it difficult for researchers to track the epidemiology of the condition and assess the efficacy of interventions. [9] Classification [ edit ] In the 1960s, researchers reported a syndrome of non-specific histopathological and functional changes to the small intestine in individuals living in unsanitary conditions. [3] This syndrome was observed predominantly in tropical regions across Latin America, sub-Saharan Africa and Asia. The geographic distribution of the syndrome lead to the original term of "tropical enteropathy" (sometimes also "tropical jejunopathy"). [3] Following initial reports, further investigation revealed that these symptoms were not specific to tropical climates.
One study by Klausner and Mendoza (2002) of young people aged 18 to 30 in 34 neighborhoods in Lima, Chiclayo , and Trujillo demonstrated that 18 percent had more than one sex partner in the last year, 8 percent had more than one partner in the last three months, and condom use was low. [1] Contents 1 National response 2 USAID Support 3 See also 4 References National response [ edit ] Peru was one of the first countries in Latin America to adopt a syndromic management approach to STIs and offer prophylaxis for preventing mother-to-child HIV transmission, although currently PMTCT coverage is only 56 percent, according to the 2010 UNGASS report. ... Journal of Acquired Immune Deficiency Syndromes , 2009, 51 (Suppl. 1): S47–S51 ^ Sidibé, Michel . ... Retrieved November 1, 2018 . v t e HIV/AIDS in South America Sovereign states Argentina Bolivia Brazil Chile Colombia Ecuador Guyana Paraguay Peru Suriname Uruguay Venezuela Dependencies and other territories Falkland Islands French Guiana South Georgia and the South Sandwich Islands v t e HIV / AIDS topics HIV/AIDS HIV HIV Lentivirus structure and genome subtypes CDC classification disease progression rates HIV/AIDS diagnosis management pathophysiology prevention research vaccination PrEP WHO disease staging system for HIV infection and disease Children Teens / Adults Countries by AIDS prevalence rate Conditions Signs and symptoms AIDS-defining clinical condition Diffuse infiltrative lymphocytosis syndrome Lipodystrophy Nephropathy Neurocognitive disorders Pruritus Superinfection Tuberculosis co-infection HIV Drug Resistance Database Innate resistance to HIV Serostatus HIV-positive people Nutrition Pregnancy History History Epidemiology Multiple sex partners Timeline AIDS Museum Timothy Ray Brown Women and HIV/AIDS Social AIDS orphan Catholic Church and HIV/AIDS Circumcision and HIV Criminal transmission Discrimination against people Economic impact Cost of treatment HIV-affected community HIV/AIDS activism HIV/AIDS denialism Red ribbon Safe sex Sex education List of HIV-positive people People With AIDS Self-Empowerment Movement HIV/AIDS in the porn industry Culture Discredited HIV/AIDS origins theories International AIDS Conference International AIDS Society Joint United Nations Programme on HIV/AIDS (UNAIDS) Media portrayal of HIV/AIDS Misconceptions about HIV/AIDS President's Emergency Plan for AIDS Relief (PEPFAR) The SING Campaign Solidays Treatment Action Campaign World AIDS Day YAA/Youthforce "Free Me" Larry Kramer Gay Men's Health Crisis ACT UP Silence=Death Project HIV/AIDS pandemic by region / country Africa Angola Benin Botswana Democratic Republic of the Congo Egypt Eswatini Ethiopia Ghana Guinea Côte d'Ivoire (Ivory Coast) Kenya Lesotho Madagascar Malawi Mali Mozambique Namibia Niger Nigeria Rwanda Senegal Tanzania South Africa Uganda Zambia Zimbabwe North America Canada Mexico El Salvador Guatemala Honduras Nicaragua United States New York City Caribbean Haiti Jamaica Dominican Republic South America Bolivia Brazil Colombia Guyana Peru Asia Afghanistan Armenia Azerbaijan Bahrain Bangladesh Bhutan Cambodia China (PRC) ( Yunnan ) East Timor India Indonesia Iran Iraq Japan Jordan North Korea Laos Malaysia Myanmar (Burma) Nepal Pakistan Philippines Saudi Arabia Sri Lanka Taiwan (ROC) Thailand United Arab Emirates Turkey Vietnam Europe United Kingdom Russia Ukraine Oceania Australia New Zealand Papua New Guinea List of countries by HIV/AIDS adult prevalence rate List of HIV/AIDS cases and deaths registered by region v t e Peru articles History Timeline Ancient cultures Inca Empire Spanish conquest Neo-Inca State Viceroyalty War of Independence Guano Era War of the Pacific Colombia–Peru War Ecuadorian–Peruvian War Internal conflict By topic Demographic Economic Geography Cities Climate Earthquakes Flora Mountains Natural regions Protected areas Rivers Wildlife World Heritage Sites Politics Constitution Elections Government Foreign relations Human rights LGBT Law enforcement Military Political parties Regions and provinces Economy Agriculture Central Bank Companies Sol (currency) Electricity Stock Exchange Taxation Telecommunications Tourism Transport Society Crime Demographics Education Languages List of Peruvians Public holidays Religion Water supply and sanitation Culture Architecture Art Cinema Cuisine Llama Literature Machu Picchu Media Music Religion Sport Symbols Outline Index Category Portal
This is one of the 3 major components of Balint's syndrome . [8] Causes [ edit ] Apraxia is most often due to a lesion located in the dominant (usually left) hemisphere of the brain, typically in the frontal and parietal lobes . ... (eds.), "Chapter 28 - Apraxia: neural mechanisms and functional recovery" , Handbook of Clinical Neurology , Neurological Rehabilitation, Elsevier, 110 , pp. 335–345 , retrieved 2019-08-07 ^ a b Tonkonogy, Joseph & Puente, Antonio (2009). Localization of clinical syndromes in neuropsychology and neuroscience . ... "Treatments and technologies in the rehabilitation of apraxia and action disorganisation syndrome: A review" . NeuroRehabilitation . 39 (1): 163–174. doi : 10.3233/NRE-161348 .
Chromium Supplementation in Human Health, Metabolic Syndrome, and Diabetes". In Sigel, Astrid; Freisinger, Eva; Sigel, Roland K. ... Chromium in glucose metabolism External links [ edit ] Classification D ICD - 10 : E61.4 DiseasesDB : 2625 v t e Malnutrition Protein-energy malnutrition Kwashiorkor Marasmus Catabolysis Vitamin deficiency B vitamins B 1 Beriberi Wernicke–Korsakoff syndrome Wernicke's encephalopathy Korsakoff's syndrome B 2 Riboflavin deficiency B 3 Pellagra B 6 Pyridoxine deficiency B 7 Biotin deficiency B 9 Folate deficiency B 12 Vitamin B 12 deficiency Other A: Vitamin A deficiency Bitot's spots C: Scurvy D: Vitamin D deficiency Rickets Osteomalacia Harrison's groove E: Vitamin E deficiency K: Vitamin K deficiency Mineral deficiency Sodium Potassium Magnesium Calcium Iron Zinc Manganese Copper Iodine Chromium Molybdenum Selenium Keshan disease Growth Delayed milestone Failure to thrive Short stature Idiopathic General Anorexia Weight loss Cachexia Underweight
In neonates , infants , and children younger than 4 years, most are sacrococcygeal teratomas . Males with Klinefelter syndrome have a 50 times greater risk of GSTs. [10] In these persons, GSTs usually contain nonseminomatous elements, present at an earlier age, and seldom are gonadal in location. [ medical citation needed ] Treatment [ edit ] Women with benign GCTs such as mature teratomas (dermoid cysts) are cured by ovarian cystectomy or oophorectomy . [11] In general, all patients with malignant GCTs have the same staging surgery that is done for epithelial ovarian cancer . [12] If the patient is in her reproductive years, an alternative is unilateral salpingoophorectomy , while the uterus, the ovary, and the fallopian tube on the opposite side can be left behind. ... "Mediastinal germ cell tumor in a child with precocious puberty and Klinefelter syndrome". The Annals of Thoracic Surgery . 66 (2): 547–8. doi : 10.1016/S0003-4975(98)00504-9 . ... Cancer.Net: Germ Cell Tumor v t e Germ cell tumors Germinomatous Germinoma Seminoma Dysgerminoma Nongerminomatous Embryonal carcinoma Endodermal sinus tumor/Yolk sac tumor Teratoma : Fetus in fetu Dermoid cyst Struma ovarii Strumal carcinoid Trophoblastic neoplasm : Gestational trophoblastic disease Hydatidiform mole Choriocarcinoma Placental site trophoblastic tumor Polyembryoma Gonadoblastoma v t e Tumors of the female urogenital system Adnexa Ovaries Glandular and epithelial / surface epithelial- stromal tumor CMS: Ovarian serous cystadenoma Mucinous cystadenoma Cystadenocarcinoma Papillary serous cystadenocarcinoma Krukenberg tumor Endometrioid tumor Clear-cell ovarian carcinoma Brenner tumour Sex cord–gonadal stromal Leydig cell tumour Sertoli cell tumour Sertoli–Leydig cell tumour Thecoma Granulosa cell tumour Luteoma Sex cord tumour with annular tubules Germ cell Dysgerminoma Nongerminomatous Embryonal carcinoma Endodermal sinus tumor Gonadoblastoma Teratoma / Struma ovarii Choriocarcinoma Fibroma Meigs' syndrome Fallopian tube Adenomatoid tumor Uterus Myometrium Uterine fibroids/leiomyoma Leiomyosarcoma Adenomyoma Endometrium Endometrioid tumor Uterine papillary serous carcinoma Endometrial intraepithelial neoplasia Uterine clear-cell carcinoma Cervix Cervical intraepithelial neoplasia Clear-cell carcinoma SCC Glassy cell carcinoma Villoglandular adenocarcinoma Placenta Choriocarcinoma Gestational trophoblastic disease General Uterine sarcoma Mixed Müllerian tumor Vagina Squamous-cell carcinoma of the vagina Botryoid rhabdomyosarcoma Clear-cell adenocarcinoma of the vagina Vaginal intraepithelial neoplasia Vaginal cysts Vulva SCC Melanoma Papillary hidradenoma Extramammary Paget's disease Vulvar intraepithelial neoplasia Bartholin gland carcinoma v t e Tumors of the male urogenital system Testicles Sex cord– gonadal stromal Sertoli–Leydig cell tumour Sertoli cell tumour Leydig cell tumour Germ cell G Seminoma Spermatocytic tumor Germ cell neoplasia in situ NG Embryonal carcinoma Endodermal sinus tumor Gonadoblastoma Teratoma Choriocarcinoma Embryoma Prostate Adenocarcinoma High-grade prostatic intraepithelial neoplasia HGPIN Small-cell carcinoma Transitional cell carcinoma Penis Carcinoma Extramammary Paget's disease Bowen's disease Bowenoid papulosis Erythroplasia of Queyrat Hirsuties coronae glandis
Overview Germ cell tumors are growths of cells that form from reproductive cells. The tumors may be cancerous or not cancerous. Most germ cell tumors occur in the testicles or the ovaries. Some germ cell tumors occur in other areas of the body, such as the abdomen, brain and chest, though it's not clear why. Germ cell tumors that occur in places other than the testicles and ovaries (extragonadal germ cell tumors) are very rare. Treatment options for germ cell tumors may include surgery to remove the tumor, chemotherapy with drugs that kill cancer cells and radiation therapy with powerful energy beams.
Unfortunately, damage to the autonomic nervous system in the form of autonomic neuropathy is a common complication of long-standing diabetes (especially type 1 diabetes), so the presence of hypoglycemic unawareness may be a sign of autonomic neuropathy, although the autonomic response to hypoglycemia is already impaired in patients with type 1 diabetes mellitus even in the absence of autonomic neuropathy. [ citation needed ] Because the autonomic response is, in effect, the body's backup system for responding to hypoglycemia, patients with type 1 diabetes are forced to rely almost exclusively on a backup system for protection, which can unfortunately, deteriorate over time. [ citation needed ] The reduced autonomic response (including the sympathetic neural norepinephrine and acetylcholine as well as the adrenomedullary epinephrine response) causes the clinical syndrome of hypoglycemia unawareness — loss of the largely neurogenic warning symptoms of developing hypoglycemia. ... External links [ edit ] Classification D ICD - 9-CM : 250.8 Diabetic Hypoglycemia website Diabetes In Control-Drugs that may affect blood glucose levels v t e Diabetes Types Type 1 Type 2 LADA Gestational diabetes Diabetes and pregnancy Prediabetes Impaired fasting glucose Impaired glucose tolerance Insulin resistance KPD MODY Neonatal Transient Permanent Type 3c (pancreatogenic) Type 3 Blood tests Blood sugar level Glycosylated hemoglobin Glucose tolerance test Postprandial glucose test Fructosamine Glucose test C-peptide Noninvasive glucose monitor Insulin tolerance test Management Diabetic diet Anti-diabetic drugs Insulin therapy intensive conventional pulsatile Cure Embryonic stem cells Artificial pancreas Other Gastric bypass surgery Complications Diabetic comas Hypoglycemia Ketoacidosis Hyperosmolar hyperglycemic state Diabetic foot ulcer Neuropathic arthropathy Organs in diabetes Blood vessels Muscle Kidney Nerves Retina Heart Diabetic skin disease Diabetic dermopathy Diabetic bulla Diabetic cheiroarthropathy Neuropathic ulcer Hyperglycemia Hypoglycemia Other Glossary of diabetes History of diabetes Notable people with type 1 diabetes v t e Shock Distributive Septic shock Neurogenic shock Anaphylactic shock Toxic shock syndrome Obstructive Abdominal compartment syndrome Low volume Hemorrhage Hypovolemia Osmotic shock Other Spinal shock Cryptic shock Vasodilatory shock
Overview Diabetic hypoglycemia occurs when someone with diabetes doesn't have enough sugar (glucose) in his or her blood. Glucose is the main source of fuel for the body and brain, so you can't function well if you don't have enough. For many people, low blood sugar (hypoglycemia) is a blood sugar level below 70 milligrams per deciliter (mg/dL), or 3.9 millimoles per liter (mmol/L). But your numbers might be different. Ask your health care provider about the appropriate range to keep your blood sugar (target range). Pay attention to the early warning signs of hypoglycemia and treat low blood sugar promptly.
This was on top of the fact that many had other menstrual issues including bleeding, cramps and other menstrual induced health issues. [10] This state was one of a majority that taxed essential hygiene products like tampons and menstrual pads as of November 2018. [11] [12] [13] [14] History [ edit ] Legislative history [ edit ] By 1950, the state legislature would pass a law that stating that a woman who had an abortion or actively sought to have an abortion regardless of whether she went through with it were guilty of a criminal offense. [15] Since the early 1980s, Planned Parenthood has been Utah's only Title X grantee and only abortion service provider in the state. [16] The state was one of 23 states in 2007 to have a detailed abortion-specific informed consent requirement. [17] The informed consent materials in South Dakota, Texas, Utah and West Virginia given to women seeking abortions include counseling materials that say women who have abortions may have suicidal thoughts or they may experience "postabortion traumatic stress syndrome." The latter syndrome is not recognized by American Psychological Association or the American Psychiatric Association . [18] In 2013, state Targeted Regulation of Abortion Providers (TRAP) law applied to medication induced abortions and private doctor offices in addition to abortion clinics. [19] There was a pending bill in Utah in early 2018 to prohibit women from requesting their doctors perform abortions as a result of getting a Down syndrome diagnosis during her pregnancy.
However, it is thought to be related to: Traumatic injury that may have taken place to the deciduous teeth, also known as baby teeth. [1] Idiopathic developmental disturbance, meaning it is unknown [1] An ankylosed deciduous tooth, meaning a baby tooth that is permanently attached to the jaw bone [1] And the presence of supernumerary teeth, meaning an individual that is born with extra teeth [1] Smith-Magenis syndrome [6] Axenfeld-Rieger syndrome [5] Cysts [4] [1] Tumors [4] [1] Mechanism/ Pathophysiology [ edit ] During the developmental stages, the permanent tooth germ, specifically of the maxillary incisor lies superior to the apex of the primary incisor. [5] If there is damage to the primary incisor, this will cause an impact on the permanent incisor as well as there is only about a 3mm space of thickness between the primary and permanent teeth. [5] In the human mouth, once the permanent teeth begin to develop, they remain underneath the primary teeth. ... "Craniofacial and dental phenotype of Smith-Magenis syndrome" . American Journal of Medical Genetics.
In humans, the relative incidence of cancer increases exponentially with age for most cancers, but levels off or may even decline by age 60–75 [3] (although colon / rectal cancer continues to increase). [4] People with the so-called segmental progerias are vulnerable to different sets of diseases. Those with Werner's syndrome suffer from osteoporosis, cataracts, and cardiovascular disease, but not neurodegeneration or Alzheimer's disease; those with Down syndrome suffer type 2 diabetes and Alzheimer's disease, but not high blood pressure , osteoporosis or cataracts. In Bloom syndrome , those afflicted most often die of cancer.
Tuberculous lymphadenitis Tubercular adenitis with sinus Specialty Otolaryngology Symptoms painless swelling in the neck Tuberculous lymphadenitis (or tuberculous adenitis ) is the most common form of tuberculosis infections that appears outside the lungs . [1] Tuberculous lymphadenitis is a chronic , specific granulomatous inflammation of the lymph node with caseation necrosis , caused by infection with Mycobacterium tuberculosis or related bacteria. The characteristic morphological element is the tuberculous granuloma (caseating tubercule). This consists of giant multinucleated cells and ( Langhans cells), surrounded by epithelioid cells aggregates, T cell lymphocytes and fibroblasts . Granulomatous tubercules eventually develop central caseous necrosis and tend to become confluent, replacing the lymphoid tissue. Contents 1 Cause 2 Symptoms 3 Stages 4 Diagnosis 5 Treatment 6 Epidemiology 7 References 8 External links Cause [ edit ] It is usually caused by the most common cause of tuberculosis in the lungs, namely Mycobacterium tuberculosis . [1] It has sometimes also been caused by related bacteria, including M. bovis , M. kansasii , M. fortuitum , M. marinum , and M. ulcerans . [1] Symptoms [ edit ] In addition to swollen lymph nodes, called lymphadenitis , the person may experience mild fevers, not feel like eating, or lose weight. [1] Stages [ edit ] Stages of tubercular lymphadenitis: Lymphadenitis Periadenitis Cold abscess 'Collar stud' abscess Sinus Tuberculous lymphadenitis is popularly known as collar stud abscess , due to its proximity to the collar bone and its superficial resemblance to a collar stud , although this is just one of the five stages of the disease.
People who receive long-term dialysis to treat chronic kidney failure have a greater risk of developing kidney cancer. Certain inherited syndromes. People who are born with certain inherited syndromes may have an increased risk of kidney cancer, such as those who have von Hippel-Lindau disease, Birt-Hogg-Dube syndrome, tuberous sclerosis complex, hereditary papillary renal cell carcinoma or familial renal cancer.
Clinical Features Mental retardation is a leading feature of many mendelian syndromes. In addition, studies in mental institutions such as those of Priest et al. (1961) and of Wright et al. (1959) show that mental retardation of unclassified type occurs in multiple sibs in a considerable number of cases.
The 2 male affected individuals underwent surgical management for unilateral cryptorchidism and inguinal hernia, and urologists suspected a diagnosis of persistent Mullerian duct syndrome (261550). No genital anomalies were observed in the affected female individual.
Description Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations. Clinical Features Rafiq et al. (2005) reported ectodermal dysplasia of the hair/nail type in 13 members (8 males; 5 females) over 6 generations of an inbred Pakistani family. Clinical features included micronychia, resulting in highly dystrophic fingernails, anonychia of toenails, thin scalp and body hair, and fine eyebrows and eyelashes. Inheritance The transmission pattern of ectodermal dysplasia in the family reported by Rafiq et al. (2005) was consistent with autosomal recessive inheritance.
Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant.
Description Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations. Clinical Features Naeem et al. (2006) reported a consanguineous Pakistani family in which multiple members had a hair/nail form of ectodermal dysplasia. All of those affected were born with total alopecia and dystrophic nails. Hair was absent from the scalp, face, chest, arms, and legs. At 5 years of age, patients developed curly, sparse, thin hair on the scalp that could be painlessly plucked without force.
A number sign (#) is used with this entry because of evidence that ectodermal dysplasia-7 (ECTD7) is caused by homozygous mutation in the KRT74 gene (608248) on chromosome 12q13. One such family has been reported. Description Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations. Clinical Features Naeem et al. (2007) reported a consanguineous Pakistani family in which multiple members had a hair/nail type of ectodermal dysplasia. In those affected, hair was absent from the scalp, face, chest, arms, and legs.
A number sign (#) is used with this entry because of evidence that ectodermal dysplasia-4 (ECTD4) is caused by homozygous mutation in the KRTHB5 gene (KRT85; 602767) on chromosome 12q13. Description Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations. Clinical Features Calzavara-Pinton et al. (1991) reported a family with an autosomal recessive form of hidrotic ectodermal dysplasia involving the hair and nails. Affected members had scalp, beard, axillary, and pubic hairs 1 to 10 mm long.
Pure hair-nail type ectodermal dysplasia Other names Hair-nail ectodermal dysplasia 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. [1] Manifestations of this disorder include onychodystrophy and severe hypotrichosis . It represents as an autosomal dominant trait. [2] See also [ edit ] List of cutaneous conditions References [ edit ] ^ Naeem, M; Wajid, M; Lee, K; Leal, S. M; Ahmad, W (2005). "A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type" . Journal of Medical Genetics . 43 (3): 274–279. doi : 10.1136/jmg.2005.033381 . PMC 2563238 . PMID 16525032 . ^ "Ectodermal dysplasia, pure hair-nail type" .
Mothers of children with trichothiodystrophy may experience problems during pregnancy including pregnancy-induced high blood pressure (preeclampsia) and a related condition called HELLP syndrome that can damage the liver. Babies with trichothiodystrophy are at increased risk of premature birth, low birth weight, and slow growth.
One family (family 1), a nonconsanguineous family of Moroccan descent, had previously been reported by van Bever et al. (2007) as having a clinical diagnosis consistent with DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures; see 220500).
A number sign (#) is used with this entry because dihydropyrimidine dehydrogenase (DPD) deficiency is caused by homozygous or compound heterozygous mutation in the DPYD gene (612779) on chromosome 1p21. Description Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999). Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004).
A rare disorder of pyrimidine metabolism characterized by a variable phenotype ranging from absence of symptoms to severe neurological involvement with developmental delay, intellectual disability, and seizures. Additional signs and symptoms may include hypotonia, microcephaly, ocular abnormalities (such as microphthalmia, nystagmus, and strabismus), and autistic behavior, among others. Analysis of urine typically shows high levels of uracil and thymine. Patients are at risk of suffering from severe toxicity after the administration of the anti-neoplastic agent 5-fluorouracil.
The findings emphasized an overlap in the clinical spectrum of congenital myopathies with fetal akinesia and congenital myasthenic syndromes (see, e.g., 608931), and suggested that proteins related to NMJ adhesion are important for normal muscle development and growth.
Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.