. ^ a b "Guidelines for the prevention and treatment of opportunistic infections in adults and adolescents with HIV: recommendations from the Centers for Disease Control and Prevention, the National Institutes of Health, and the HIV Medicine Association of the Infectious Diseases Society of America" (PDF) . 26 May 2020 . Retrieved 28 November 2020 . External links [ edit ] Classification D MeSH : D009894
Brain imaging, performed on most patients, showed white matter abnormalities in the cerebrum, cerebellum, and brainstem, with sparing of the basal ganglia. Five patients died between 11 and 28 months of age, usually due to recurrent chest infections.
A rare, severe, genetic, neurometabolic disease characterized by infantile-onset of progressive neurodevelopmental regression, optic atrophy with nystagmus and diffuse white matter disease. Affected individuals usually have central hypotonia that progresses to limb spasticity and hyperreflexia, eventually resulting in a vegetative state. Recurrent chest infections are frequently associated and seizures (usually generalized tonic-clonic) may occasionally be observed. Brain magnetic resonance imaging shows diffuse bilateral symmetric abnormalities in the cerebral periventricular white matter, with variable lesions in other areas but sparing the basal ganglia.
At these other 'ectopic' sites, endometrium tissue still responds to hormones with normal cyclical changes - bleeding roughly every 28 days. [ medical citation needed ] Theories explaining distant ectopic endometriosis include: Vasculogenesis : Up to 37% of the microvascular endothelium of ectopic endometrial tissue originates from endothelial progenitor cells , which result in de novo formation of microvessels by the process of vasculogenesis rather than the conventional process of angiogenesis . [6] [ clarification needed ] Lymphatic spread : endometrial fragments travel through the thoracic duct and hilar lymph nodes, reaching the chest cavity and causing pulmonary or pleural endometriosis. [7] Coelomic metaplasia theory : the pleura and peritoneum share the same embryological origin, both derived from mesothelium.
Bickerstaff's brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma). Epidemiology Prevalence is unknown. Clinical description Patients usually present with onset of diplopia and gait disturbance following upper respiratory or gastrointestinal tract infections. The external ophthalmoplegia is progressive (within 4 weeks of onset) and relatively symmetrical. Flaccid symmetrical tetraparesis may also be observed in over half of the patients, together with deep or superficial sensory impairment, facial weakness, bulbar palsy, internal ophthalmoplegia, blepharoptosis and nystagmus. In the acute phase of disease, BBE may be so severe that there is complete ophthalmoplegia, facial diplegia and full paralysis of arms and legs, resembling 'brain-death'.
Reflux resolved in 52.8% of cases at a mean follow-up of 18.5 months. Yearly resolution rates exceeded 28%. Predictors of the likelihood of resolution were not identified.
Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible.
"Preventing Foot Ulcers in Patients With Diabetes" . JAMA . 293 (2): 217–28. doi : 10.1001/jama.293.2.217 . PMID 15644549 . ^ International Working Group on the Diabetic Foot (2015).
A number sign (#) is used with this entry because multiple sulfatase deficiency (MSD) is caused by homozygous or compound heterozygous mutation in the sulfatase-modifying factor-1 gene (SUMF1; 607939) on chromosome 3p26. Description Multiple sulfatase deficiency is an autosomal recessive inborn error of metabolism resulting in tissue accumulation of sulfatides, sulfated glycosaminoglycans, sphingolipids, and steroid sulfates. The enzymatic defect affects the whole family of sulfatase enzymes; thus, the disorder combines features of metachromatic leukodystrophy (250100) and of various mucopolysaccharidoses (see, e.g., MPS6; 253200). Affected individuals show neurologic deterioration with mental retardation, skeletal anomalies, organomegaly, and ichthyosis. Different types of MSD can be distinguished according to the age of onset: neonatal, late infantile (0 to 2 years), and juvenile (2 to 4 years).
Summary Clinical characteristics. Initial symptoms of multiple sulfatase deficiency (MSD) can develop from infancy through early childhood, and presentation is widely variable. Some individuals display the multisystemic features characteristic of mucopolysaccharidosis disorders (e.g., developmental regression, organomegaly, skeletal deformities) while other individuals present primarily with neurologic regression (associated with leukodystrophy). Based on age of onset, rate of progression, and disease severity, several different clinical subtypes of MSD have been described: Neonatal MSD is the most severe with presentation in the prenatal period or at birth with rapid progression and death occurring within the first two years of life. Infantile MSD is the most common variant and may be characterized as attenuated (slower clinical course with cognitive disability and neurodegeneration identified in the 2nd year of life) or severe (loss of the majority of developmental milestones by age 5 years). Juvenile MSD is the rarest subtype with later onset of symptoms and subacute clinical presentation.
Multiple sulfatase deficiency is a lysosomal storage disorder that mainly affects the brain, skin, and skeleton. The signs and symptoms of this condition vary widely, prompting researchers to divide it into three types: neonatal, late-infantile, and juvenile. The neonatal type is the most severe form, with symptoms developing soon after birth. The late-infantile type is the most common form and usually presents as progressive loss of mental abilities and movement after a period of normal development. The juvenile type is rare, with a slow regression of psychomotor development in mid to late childhood.
Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.
Multiple sulfatase deficiency is a condition that mainly affects the brain, skin, and skeleton. Because the signs and symptoms of multiple sulfatase deficiency vary widely, researchers have split the condition into three types: neonatal, late-infantile, and juvenile. The neonatal type is the most severe form, with signs and symptoms appearing soon after birth. Affected individuals have deterioration of tissue in the nervous system (leukodystrophy), which can contribute to movement problems, seizures, developmental delay, and slow growth. They also have dry, scaly skin (ichthyosis) and excess hair growth (hypertrichosis).
"Aplasia cutis congenita and other anomalies associated with methimazole exposure during pregnancy". Pediatric Dermatology . 28 (6): 743–745. doi : 10.1111/j.1525-1470.2011.01572.x .
Aplasia cutis congenita is a condition in which there is congenital (present from birth) absence of skin, with or without the absence of underlying structures such as bone. It most commonly affects the scalp, but any location of the body can be affected. While most people with aplasia cutis congenita have no other abnormalities, some people have congenital malformations involving the cardiovascular (heart), gastrointestinal, genitourinary, and central nervous systems. The cause of this condition is unclear and appears to be multifactorial (many different factors appear to play a role); contributing factors may include teratogens, genes, trauma, and compromised blood flow to the skin.
A rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. Aplasia cutis congenita (ACC) may occasionally be associated with other anomalies. Epidemiology Worldwide ACC prevalence is approximately 1/10,000 live births. Clinical description ACC is noticed immediately at birth and usually presents as a solitary lesion on or near the vertex. There may also be multiple lesions occurring on the scalp or elsewhere.
A number sign (#) is used with this entry because of evidence that nonsyndromic aplasia cutis congenita (ACC) is caused by heterozygous mutation in the BMS1 gene (611448) on chromosome 10q11. One such family has been reported. Description Aplasia cutis congenita (ACC) is defined as congenital localized absence of skin. The skin appears as a thin, transparent membrane through which the underlying structures are visible. The location is usually on the scalp (Evers et al., 1995). Approximately 20 to 30% of cases have underlying osseous involvement (Elliott and Teebi, 1997). Autosomal dominant inheritance is most common, but recessive inheritance has also been reported.
Clinical Features Freire-Maia et al. (1980) described congenital absence of skin in the upper or lower limbs or both in 6 members (5 males and 1 female) of 3 inbred sibships of the same kindred. The lesions usually healed spontaneously leaving a clinical appearance like that of the hypotrichotic scar of an old burn. In 6 instances, an affected father married to a relative had an affected child (pseudodominance). There was no trunk or scalp involvement. Portnoy and Metzker (1981) described a disorder affecting a brother and sister with Yemenite parents who were presumed to be unrelated. Clinically, the disorder resembled the Bart type of epidermolysis bullosa dystrophica (132000), which is inherited as an autosomal dominant, but may, in fact, represent prenatal manifestation of epidermolysis bullosa of either the Koebner type (131900), due to a keratin defect, or epidermolysis bullosa dystrophica, due to a defect in COL7A1 (120120).
Nonsyndromic aplasia cutis congenita is a condition in which babies are born with localized areas of missing skin (lesions). These areas resemble ulcers or open wounds, although they are sometimes already healed at birth. Lesions most commonly occur on the top of the head (skull vertex), although they can be found on the torso or limbs. In some cases, the bone and other tissues under the skin defect are also underdeveloped. Most affected babies have a single lesion. The lesions vary in size and can be differently shaped: some are round or oval, others rectangular, and still others star-shaped.
Most infants that are not stillborn with Meckel syndrome die within hours to days of birth. [8] The longest survival time reported in medical literature is 28 months. [9] Incidence [ edit ] While not precisely known, it is estimated that the general rate of incidence , according to Bergsma, [10] for Meckel syndrome is 0.02 per 10,000 births.
Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi.
Woolly hair nevus Specialty Medical genetics Woolly hair nevus (alternatively spelled "Wooly hair nevus") is a congenital condition in which hair in a circumscribed area of the scalp is kinked or woolly . [1] See also [ edit ] Woolly hair Naxos syndrome Striate palmoplantar keratoderma, woolly hair, and left ventricular dilated cardiomyopathy List of cutaneous conditions References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set . St. Louis: Mosby. p. 851. ISBN 978-1-4160-2999-1 . External links [ edit ] Classification D ICD - 10 : Q82.5 ( ILDS Q82.550) This Epidermal nevi, neoplasms, cysts article is a stub . You can help Wikipedia by expanding it . v t e
McManus et al. (1986) described a family in which 6 members spanning 3 generations died of acute dissection of the aorta; 5 were men who died at a mean age of 28 years (range 22 to 34), while the sixth was the proband's paternal grandmother, who died at 62 years of age.
Familial aortic dissection is the term used to describe rupture of the aortic wall at the level of the media, resulting in the formation of a false channel and deviation of part of the aortic flux. Familial predisposition to thoracic aortic aneurysms and type A dissections (concerning the ascending aorta and/or the aortic arch) has been demonstrated in around 19% of patients presenting with thoracic aortic dissections and several loci have been identified so far (16p12.2-p13.13, 3p24-25). This predisposition is transmitted in an autosomal dominant manner.
Familial thoracic aortic aneurysm and dissection (familial TAAD) involves problems with the aorta , which is the large blood vessel that distributes blood from the heart to the rest of the body. Familial TAAD affects the upper part of the aorta, near the heart. This part of the aorta is called the thoracic aorta because it is located in the chest (thorax). Other vessels that carry blood from the heart to the rest of the body (arteries) can also be affected. In familial TAAD, the aorta can become weakened and stretched (aortic dilatation), which can lead to a bulge in the blood vessel wall (an aneurysm). Aortic dilatation may also lead to a sudden tearing of the layers in the aorta wall (aortic dissection ), allowing blood to flow abnormally between the layers.
Familial aortic dissection Other names Cystic medial necrosis of aorta, Annuloaortic ectasia Aorta Familial aortic dissection or FAD refers to the splitting of the wall of the aorta in either the arch, ascending or descending portions. FAD is thought to be passed down as an autosomal dominant disease and once inherited will result in dissection of the aorta , and dissecting aneurysm of the aorta, or rarely aortic or arterial dilation at a young age. Dissection refers to the actual tearing open of the aorta. However, the exact gene(s) involved has not yet been identified. [1] It can occur in the absence of clinical features of Marfan syndrome and of systemic hypertension . [2] [3] [4] [5] [6] Over time this weakness, along with systolic pressure , results in a tear in the aortic intima layer thus allowing blood to enter between the layers of tissue and cause further tearing. Eventually complete rupture of the aorta occurs and the pleural cavity fills with blood. Warning signs include chest pain, ischemia , and hemorrhaging in the chest cavity.
The vast majority had thick anteverted alae nasi; 31 of 36 had broad philtrum; 29 of 36 had long philtrum; 34 of 36 a large mouth; 27 of 36 had thin upper vermilion border; 32 of 36 had thick lower vermilion border; 28 of 35 had prominent interphalangeal joints; 21 of 35 had prominent distal phalanges; and 16 of 32 had short metacarpals and/or metatarsals.
Summary Clinical characteristics. Nicolaides-Baraitser syndrome (NCBRS) is characterized by sparse scalp hair, prominence of the inter-phalangeal joints and distal phalanges due to decreased subcutaneous fat, characteristic coarse facial features, microcephaly, seizures, and developmental delay / intellectual disability. Seizures are of various types and can be difficult to manage. Developmental delay / intellectual disability (ID) is severe in nearly a half, moderate in a third, and mild in the remainder. Nearly a third never develop speech or language skills. Diagnosis/testing. The diagnosis of NCBRS is established in a proband with suggestive clinical findings and the identification of a heterozygous SMARCA2 pathogenic variant by molecular genetic testing. Management. Treatment of manifestations: Antiepileptic drugs (AEDs) for seizures under the care of a neurologist or epileptologist; occupational, physical, and/or speech therapy; routine management of refractive errors and hearing loss.
Nicolaides-Baraitser syndrome is a condition that affects many body systems. Affected individuals can have a wide variety of signs and symptoms, but the most common are sparse scalp hair, small head size (microcephaly), distinct facial features, short stature, prominent finger joints, unusually short fingers and toes (brachydactyly), recurrent seizures (epilepsy), and moderate to severe intellectual disability with impaired language development. In people with Nicolaides-Baraitser syndrome, the sparse scalp hair is often noticeable in infancy. The amount of hair decreases over time, but the growth rate and texture of the hair that is present is normal. Affected adults generally have very little hair. In rare cases, the amount of scalp hair increases over time.
Nicolaides-Baraitser syndrome - NCBRS Other names NCBRS Frequency <1 / 1 000 000 [1] Nicolaides–Baraitser syndrome (NCBRS) is a rare genetic condition caused by de novo missense mutations in the SMARCA2 gene and has only been reported in less than 100 cases worldwide. [2] NCBRS is a distinct condition and well recognizable once the symptoms have been identified. The differential includes Coffin–Siris syndrome . Contents 1 Symptoms 1.1 Major Features of NCBRS 2 Cause 3 History 4 References 5 External links Symptoms [ edit ] The most common symptoms of Nicolaides–Baraitser syndrome are mild to severe developmental delays with absent or limited speech, seizures , short stature, sparse hair, typical facial characteristics, brachydactyly , and prominent finger joints and broad distal phalanges . [3] Major Features of NCBRS [ edit ] Mild prenatal growth retardation Moderate postnatal growth retardation Mild to severe developmental delay Severely impaired speech Seizures Microcephaly Sparse hair Progressive skin wrinkling Thick, anteverted alae nasi Long and broad philtrum Large mouth Thin upper and thick lower vermilion Progressive prominence of distal phalanges Progressive prominence of inter-phalangeal joints Scoliosis Short metacarpals – metatarsals Cause [ edit ] This condition occurs via mutations in the SMARCA2 gene. In rare instances this condition can occur via a mutation in the ARID1B gene. [4] History [ edit ] Paola Nicolaides was a pediatric neurologist and Michael Baraitser a clinical geneticist, both working in Great Ormond Street Hospital for Children in London . They saw a young girl with an unusual combination of signs and symptoms, and thought this to be a recognizable entity. They published this in a medical journal in 1993. [5] Other authors later suggested to name the entity after the authors who had first described it. [6] References [ edit ] ^ RESERVED, INSERM US14-- ALL RIGHTS.
Nicolaides-Baraitser syndrome (NCBRS) is a very rare condition characterized by severe intellectual disability and various physical features. Signs and symptoms may include seizures, short stature, sparse hair, distinctive facial characteristics, short fingers and toes (brachydactyly), and prominent joints in the fingers and toes (interphalangeal joints). Features of the condition can worsen over time. NCBRS is caused by changes (mutations) in the SMARCA2 gene and is inherited in an autosomal dominant manner. All cases reported to date have been sporadic , occurring in people with no family history of NCBRS.
Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.
Bruno et al. (1998) reported a splice junction mutation in the PHKA1 gene (311870.0002) in a 28-year old Caucasian male with exercise intolerance, myoglobinuria, and muscle phosphorylase kinase deficiency.
Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance. Epidemiology The disease is very rare with less than 30 patients reported in the literature. Clinical description The disease starts generally in adolescence or adulthood. Patients may present with exercise intolerance with myalgia, cramps, fatigue, and sometimes myoglobinuria. In some cases, patients may present with progressive muscle weakness.
