Fitzpatrick's Dermatology in General Medicine . (6th ed.). Page 684. McGraw-Hill. ISBN 0-07-138076-0 . ^ Lowell Goldsmith, Stephen Katz, Barbara Gilchrest, Amy Paller, David Leffell, Klaus Wolff (22 February 2012).
Please review the use of non-free content according to policy and guidelines and correct any violations. The talk page may have details. ( September 2020 ) ( Learn how and when to remove this template message ) Ductopenia refers to a reduction in the number of ducts in an organ .
Davis (1999) ISBN 0-19-510307-6 , p. 82 ^ τραῦμα , Henry George Liddell, Robert Scott, A Greek-English Lexicon , on Perseus ^ φόβος , Henry George Liddell, Robert Scott, A Greek-English Lexicon , on Perseus ^ Page, Andrew C, and Benjamin J Tan. "Disgust and Blood-Injury-Injection Phobia" .
Verloes et al. (1996) reported 2 families in which neonatal hemochromatosis was observed in half sibs. In the first family, 2 successive girls were born of different fathers. ... Molecular Genetics Hardy et al. (1990) sought evidence for major rearrangements or deletions at the HLA class I region and at 3 loci directly involved in iron metabolism (H- and L-apoferritin and the transferrin receptor) in neonatal hemochromatosis. In 10 affected probands and 26 first-degree relatives in a total of 13 kindreds, they found no evidence for major rearrangements or deletions in genes studied, and found no evidence for linkage of neonatal hemochromatosis to HLA serotypes.
This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first days of life. Babies with the disease may be born very early ( premature ) or struggle to grow in the womb ( intrauterine growth restriction ).
Neonatal hemochromatosis (NH) is an iron storage disorder present at birth. It is a distinct entity that differs from adult hemochromatosis with respect to its molecular origin. Clinical description Clinical signs occur as early as 48 hours after birth and are characterized by the association of severe hepatocellular failure with hyperbilirubinemia, signs of hemorrhage, edema, ascites, hypoglycemia, and lactic acidosis with little to no elevation of transaminases. Etiology The underlying cause of this iron storage disorder is unknown but it may be associated with an anomaly in placental iron transfer. Diagnostic methods Although the diagnosis may be suspected following measurement of transaminase activity, it can only be confirmed by demonstrating the generalized iron overload affecting the salivary glands, liver and pancreas, among other organs.
References [ edit ] ^ "Overview of the Pituitary Gland: Pituitary Gland Disorders: Merck Manual Home Health Handbook" . Retrieved 2009-04-04 . ^ Page 358 in: Aminoff, Michael J. (2007).
Fitzpatrick's Dermatology in General Medicine . (6th ed.). Page 1012. McGraw-Hill. ISBN 0-07-138076-0 . ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
A rare skin disease characterized by the co-occurrence of a widespread vascular nevus (typically nevus flammeus) and a pigmentary nevus, potentially associated with a variety of other cutaneous nevi, and with or without extracutaneous (most commonly central nervous system, ocular, or musculoskeletal) involvement. Several subtypes are distinguished based on phenotypic characteristics.
See also [ edit ] Acyanotic heart defect References [ edit ] ^ "Cyanotic heart disease: MedlinePlus Medical Encyclopedia" . medlineplus.gov . Retrieved 27 May 2019 . ^ Page Elizabeth D Agabegi; Agabegi, Steven S. (2008).
The diagnosis of a GRIN2B -related neurodevelopmental disorder is established in a proband by identification of either a heterozygous pathogenic variant or exon or whole-gene deletion of GRIN2B on molecular genetic testing. ... GRIN2B -related neurodevelopmental disorder is inherited in an autosomal dominant manner. All probands reported to date with a GRIN2B -related neurodevelopmental disorder whose parents have undergone molecular genetic testing have the disorder as a result of a de novo GRIN2B pathogenic variant or deletion. ... Establishing the Diagnosis The diagnosis of a GRIN2B -related neurodevelopmental disorder is established in a proband by identification of either a heterozygous pathogenic variant or exon or whole-gene deletion of GRIN2B on molecular genetic testing (see Table 1). ... Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. ... Genotype-Phenotype Correlations Variant class and intellectual outcome show a significant correlation: heterozygotes for a GRIN2B pathogenic variant resulting in a null allele (e.g., nonsense or frameshift variants, deletion involving whole exons or the entire gene, translocation and inversion disrupting GRIN2B ) tended to display mild or moderate ID, while heterozygotes for pathogenic missense variants displayed severe ID (Fisher's exact test, p=0.0079 ) [Platzer et al 2017].
Palmar features include a tendency for interdigital patterns on the palm to be in the IVth space and to extend more proximally than normal, and the presence of a peculiar crack in the ridges of the hypothenar eminence, extending from the hypothenar pattern to the ulnar border of the palm (David et al., 1973). In the first family reported by David (1971) several other dominant traits were segregating independently. ... Inheritance David (1971) concluded that dermal ridges-off-the-end is an autosomal dominant trait with complete penetrance. Mapping David et al. (1973) found a suggestion of linkage of this trait to haptoglobin (140100). Inheritance - Autosomal dominant Skin - Vertical fingertip ridges extending off the fingertips - Finger patterns partly cross distal interphalangeal crease - Bilateral radial loops on ring and little fingers - Vertical crack in ridges of hypothenar eminence - Distal t triradius displacement - Abnormal proximal palmar region pattern ▲ Close
Inheritance Pipkin and Pipkin (1942) claimed dominant inheritance for total albinism without other features in one family, but a quasidominant pedigree pattern of the usual recessive forms seems likely. McLeod and Lowry (1976) observed seemingly dominant inheritance in 2 generations of 1 family but concluded that partial penetrance of the albinism II gene in heterozygotes was responsible. ... Population Genetics Froggatt (1960) estimated a phenotype frequency of albinism I to be 1 in 10,000 in Northern Ireland. First-cousin marriages occurred in 4.5% of the parents. ... (Indeed, the pink-eye--albinism linkage in the mouse was the first to be demonstrated in any mammal, by Haldane et al., 1915.) ... The aberration of speech was probably related to his nystagmus which caused a jumbling of information from the printed page. His intelligence was such that his mind comprehended despite the jumbling, but a jumbling of sorts occurred with oral output (Edwards, 1980).
Oculocutaneous albinism type 1 is a condition that affects the coloring of the skin, hair, and eyes. Signs and symptoms include very fair skin, white hair, an increased risk for skin damage with sun exposure, reduced vision (sharpness), light colored irises, nystagmus, and photophobia (eyes are sensitive to light). It is caused by changes in the TYR gene and is inherited in an autosomal recessive fashion.
Nystagmus may be present at birth or it may develop in the first 3 to 4 months of life. It continues throughout life but usually slows down after childhood and is less noticeable when a person is relaxed and well rested.
A form of oculocutaneous albinism (OCA) characterized by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localized pigementation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).
Oculocutaneous albinism type I Other names OCA1A or OCAIA Oculocutaneous albinism type I or type 1A [1] is an autosomal recessive skin disease . This subtype of oculocutaneous albinism is caused when the gene for tyrosinase (symbol TYR or OCA1) does not function properly. The location of OCA1 may be written as "11q1.4-q2.1", meaning it is on chromosome 11 , long arm, somewhere in the range of band 1, sub-band 4, and band 2, sub-band 1. References [ edit ] ^ Online Mendelian Inheritance in Man (OMIM): 203100 External links [ edit ] Classification D ICD - 10 : E70.3 OMIM : 203100 MeSH : C537729 External resources Orphanet : 352731 This genetic disorder article is a stub . You can help Wikipedia by expanding it . v t e
Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia).
Overseas Filipino workers account for about 20 percent of all cases. [12] Means of transmission [ edit ] Among males, the dominant mode of transmission (84%) was through male to male sexual contact. ... Geographical Distribution [ edit ] From 1984 to 2015, the region with the most number of reported cases were Metro Manila with 11,081 (44%), Region 4A with 3,230 (13%) cases, Central Visayas with 2,260 (9%) cases, Region 3 with 2,025 (8%) cases and Region 11 with 1,460 (6%) cases. 3,734 (15%) of cases were distributed around the rest of the country while 1,146 (5%) had no data on the region. [10] The June 2018 report cited regional differences in terms of dominant modes of transmission. Almost half (44%) of infected through MSM came from NCR while most of those that were infected via needles were from Region VII. ... In fact, the Philippines qualifies as one of the few countries where the growth of AIDS/HIV cases has approximately increased to 25% from in a span of a couple of years from 2001-2009. [17] The rise in the number of cases can be best categorized by specific groups in the population. First, the age group that is most affected are 15–24 years old. ... ] [22] Treatment is also partially covered by PhilHealth ( Philippine Health Insurance Corporation ), the country's national social health insurance program through the OHAT package. [23] Legislation [ edit ] The Philippines passed a legislation on HIV/AIDS during the first decade of Filipino infections. However, the bill's scope was minimal due to the lack of knowledge regarding the virus in the Philippines at the time. ... It also stipulated increased efforts to improve HIV awareness and to fight discrimination of PLHIVs ( HIV-positive people ). [24] References [ edit ] ^ http://www.unaids.org.ph/index.php?mod=page&type=view&mid=21&rid=0&sid=0&tid=0&pid=6 ^ a b c "HIV and AIDS" .
A number sign (#) is used with this entry because of evidence that dominant intermediate Charcot-Marie-Tooth disease G (CMTDIG) is caused by heterozygous mutation in the NEFL gene (162280) on chromosome 8p21. Description CMTDIG is an autosomal dominant neurologic disorder with a highly variable phenotype. Most affected individuals have onset in the first or second decades of slowly progressive distal motor weakness and atrophy, resulting in gait instability and distal upper limb impairment, as well as distal sensory impairment. ... Berciano et al. (2015) reported a Spanish woman and her 3 sons with a dominant intermediate form of CMT. The proband, one of the sons, had pes cavus and nonprogressive clumsy walking since infancy. ... Other family members had onset of walking difficulties in the first or second decades, with variable progression of the disorder similar to the proband.
Please help improve it or discuss these issues on the talk page . ( Learn how and when to remove these template messages ) This article needs additional citations for verification . ... The commonest location of the lesion is at first to third lumbar vertebrae. Lumbosacral adult diastematomyelia is even rarer. Bony malformations and dysplasias are generally recognized on plain x-rays . MRI scanning is often the first choice of screening and diagnosis. ... Post-myelographic CT scanning provides individualized detailed maps that enable surgical treatment of cervical diastematomyelia, first performed in 1983. [1] [2] Observation Asymptomatic patients do not require surgical treatment.
Split spinal cord malformation (SSCM) is a rare form of spinal dysraphism in which a person is born with splitting, or duplication, of the spinal cord. It may be characterized by complete or incomplete division of the spinal cord, resulting in two 'hemicords.' There are two types of SSCM. In type I, each hemicord has a full protective covering (thecal sac) and they are separated by a bony structure, forming a double spinal canal. In type II, the two hemicords are surrounded by one thecal sac and there is a single spinal canal. While SSCM is present from birth, it may become apparent at any age and is more common in women than in men.
Balci et al. (1999) reported 2 sisters with diastematomyelia with variable expressivity. They suggested that X-linked dominant inheritance with lethality in hemizygous males or female sex preference of a multifactorial trait may explain the fact that all reported familial cases have been female.
A rare, neural tube defect characterized by localized longitudinal division of the spinal cord with an interposed osseous, cartilaginous or fibrous septum and double dural sac, typically occurring at the thoracic or lumbar level. Local vertebral segmental defects, syringomyelia, meningocele and intraspinal tumors may be associated. Variable clinical presentation includes pain, scoliosis, asymmetry and weakness of the lower limbs, neurological deficits, sphincter dysfunction, and various cutaneous abnormalities overlying the spine, such as hypertrichosis, dimple, hemangioma, subcutaneous mass or pigmented nevus.
