Sleisenger and Fordtran's Gastrointestinal and Liver Disease (10 ed.). Elsevier. pp. 801–803. ^ a b c Avery's Diseases of the Newborn (10 ed.). Elsevier. 2018. pp. 1039–1053. ^ Fetal and Neonatal Physiology (5 ed.).
Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system. Epidemiology An estimated prevalence of 1-3/1,000,000 has been suggested based on observed cases in a population. The most common form of NBIA is pantothenate kinase-associated neurodegeneration (PKAN; see this term), which accounts for approximately 50% of cases. Clinical description NBIA can present as early onset with rapid progression: classic pantothenate kinase-associated neurodegeneration (PKAN), infantile neuroaxonal dystrophy (INAD) and atypical neuroaxonal dystrophy (atypical NAD) (see these terms); or later onset with slower progression: atypical PKAN, neuroferritinopathy and aceruloplasminemia (see these terms). Idiopathic NBIA can have either type of onset and progression. Etiology Classic and atypical PKAN are caused by mutations in the PANK2 gene (20p13-p12.3), infantile and atypical neuroaxonal dystrophy are caused by mutation in the PLA2G6 gene (22q13.1), aceruloplasminemia is caused by mutation of the ceruloplasmin (CP) gene (3q23-q24) and neuroferritinopathy is caused by mutations in the ferritin light chain (FTL1) gene (19q13.3-q13.4).
Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurologic disorders in which iron accumulates in the basal ganglia. Symptoms include progressive dystonia (a movement disorder resulting in muscular spasms, twisting, and repetitive movements) spasticity, parkinsonism (slurred or slow speech, stiffness of the muscles, slow movement, and visible tremors), inability to coordinate movements (ataxia), neuropsychiatric abnormalities (confusion, disorientation, seizures, stupor, dementia), and eye problems, such as optic atrophy or retinal degeneration. The age of onset ranges from infancy to late adulthood, and the rate of progression varies. Some subtypes have cognitive decline. Cerebellar atrophy is common in many cases. There are ten recognized types of NBIA, classified according to the altered gene that causes the disease.
Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system. This condition is characterized by progressive difficulty with movement, typically beginning in childhood. Movement abnormalities include involuntary muscle spasms, rigidity, and trouble with walking that worsens over time. Many people with this condition also develop problems with speech (dysarthria), and some develop vision loss. Additionally, affected individuals may experience a loss of intellectual function (dementia) and psychiatric symptoms such as behavioral problems, personality changes, and depression.
Neuroferritinopathy is a disorder in which iron gradually accumulates in the brain. Certain brain regions that help control movement (basal ganglia) are particularly affected. People with neuroferritinopathy have progressive problems with movement that begin at about age 40. These movement problems can include involuntary jerking motions (chorea), rhythmic shaking (tremor), difficulty coordinating movements (ataxia), or uncontrolled tensing of muscles (dystonia). Symptoms of the disorder may be more apparent on one side of the body than on the other.
A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkertosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984.
Clinical Features Stern et al. (1984) described a kindred in which 7 persons in 3 generations had a seemingly undescribed syndrome that combined unique corneal changes with diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, premature birth and dental problems. Patients complained of photophobia and burning and watering of the eyes. One required corenal transplant. Slit-lamp examination showed corneal epithelial changes; corneal biopsy showed mild dysplastic changes in the epithelium. Changes recurred in the transplanted cornea. The skin disorder was evident in the first year of life. The changes in the palms, soles, elbows, and knees were erythematous and scaly.
Erosive pustular dermatosis of the scalp is a rare chronic inflammation of the scalp usually occurring in elderly women (>70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia.
Clinical Features Arneson et al. (1980) observed mild EDS in 4 of 6 sibs, together with a defect in platelet aggregation in response to collagen. ... This form has striae distensae which are usually absent in other forms of EDS.
A rare, genetic, chronic, recurrent, slowly progressive, epidermal disease characterized by small, sterile, pustular eruptions, involving the nails and surrounding skin of the fingers and/or toes, which coalesce and burst, leaving erythematous, atrophic skin where new pustules develop. Onychodystrophy is frequently associated and anonychia and osteolysis are reported in severe cases. Local expansion (to involve the hands, forearms and/or feet) and involvement of mucosal surfaces (e.g. conjunctiva, tongue, urethra) may be observed.
Hypercalcemia and low fluid intake contribute to the development of casts. Myeloma cast nephropathy is considered to be a medical emergency because if untreated, it leads to irreversible renal failure. It is diagnosed by histological examination of kidney biopsy. See also Serum-free light-chain measurement References ^ a b c Comprehensive Clinical Nephrology (6 ed.). Elsevier. 2019. pp. 767–775. ^ Pocket Companion to Brenner and Rector's The Kidney (8 ed.).
Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait.
A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.
A number sign (#) is used with this entry because of evidence that the Hunter-Thompson type of acromesomelic dysplasia (AMDH) is caused by homozygous mutation in the CMPD1 gene (GDF5; 601146) on chromosome 20q11. One such family has been reported. Description The Hunter-Thompson type of acromesomelic dysplasia is characterized by skeletal abnormalities restricted to the limbs; the craniofacial skeleton and axial skeletal structures are normal. The severity of the long bone shortening progresses in a proximal to distal direction. The hands and feet are most severely affected, but the distal phalanges are relative normal. Affected individuals have joint dislocations but the number of joints involved is not constant (summary by Thomas et al., 1996).
In Yamada, Shokei (ed.). Tethered Cord Syndrome in Children and Adults (Rev. ed.). ... In Yamada, Shokei (ed.). Tethered Cord Syndrome in Children and Adults (Rev. ed.). ... In Yamada, Shokei (ed.). Tethered Cord Syndrome in Children and Adults (Rev. ed.). ... In Yamada, Shokei (ed.). Tethered Cord Syndrome in Children and Adults (Rev. ed.). ... In Yamada, Shokei (ed.). Tethered Cord Syndrome in Children and Adults (Rev. ed.).
A group of rare neural tube defect disorders characterized by improper closure of the spinal column during embryonal development, not associated with other major congenital malformations nor ventriculomegaly. The extent of the closure defect may vary, ranging from spina bifida occulta, in which the site of the lesion is not exposed (e.g. an isolated posterior vertebral arch defect), to spina bifida aperta, in which the lesion may be conformed of proturding spinal cord and meninges (myelomeningocele) or meninges exposure only (meningocele), with or without a proturding sac at the site of the lesion, to the most severe defect which includes total exposure of the spinal cord along its full length (rachischisis). Depending on the type, size and site of the defect, severe morbidity, typically inlcuding motor, sensory and sphincter dysfunction, and mortality may be associated. Spina bifida occulta may be asymptomatic.
For a general phenotypic description and a discussion of genetic heterogeneity of neural tube defects, see 182940 and 601634. Inheritance Toriello et al. (1980) observed either anencephaly or spina bifida in 5 males in 5 different sibships spanning 4 generations genealogically connected through females. Baraitser and Burn (1984) and Toriello (1984) reported additional kindreds with pedigree patterns strongly supporting X-linked recessive inheritance. Baraitser and Burn (1984) reported a nonconsanguineous Pakistani Muslim family in which a woman had 3 brothers and 3 sons with neural tube defects, including posterior encephalocele and spina bifida cystica. Jensson et al. (1988) reported an Icelandic family in which 5 males had either anencephaly or spina bifida: 2 had spina bifida, 2 sibs had anencephaly, and 1 had both high and low spinal lesions.
A number sign (#) is used with this entry because folate-sensitive neural tube defects (NTDFS) have been associated with variation in a number of genes involved in folate and homocysteine metabolism, including 5,10-methylenetetrahydrofolate reductase (MTHFR; 607093), methionine synthase (MTR; 156570), methionine synthase reductase (MTRR; 602568), and methylenetetrahydrofolate dehydrogenase-1 (MTHFD1; 172460). See also 182940 for a discussion of neural tube defects that are not associated with folate metabolism. See also 601775 for a description of variation of folate levels in erythrocytes. Description Neural tube defects have a birth incidence of approximately 1 in 1,000 in American Caucasians and are the second most common type of birth defect after congenital heart defects. The most common NTDs are open spina bifida (myelomeningocele) and anencephaly (206500) (Detrait et al., 2005).
A number sign (#) is used with this entry because of evidence that susceptibility to the development of neural tube defects (NTDs) is conferred by variation in the VANGL1 (610132), VANGL2 (600533), CELSR1 (604523), or FUZ (610622) genes. An association has been reported with variants in the T locus (601397) on chromosome 6q. Description Neural tube defects are the second most common type of birth defect after congenital heart defects. The 2 most common NTDs are open spina bifida, also known as spina bifida cystica (SBC) or myelomeningocele, and anencephaly (206500) (Detrait et al., 2005). Spina bifida occulta (SBO), a bony defect of the spine covered by normal skin, is a mild form of spina bifida that is often asymptomatic.
Pediatric life care planning and case management (2nd ed.). Boca Raton, FL: CRC Press. p. 392. ... Newborn surgery (3 ed.). London: Hodder Arnold. p. 811. ISBN 9781444149494 . ^ a b Ferri, Fred F. (2016).
Spina bifida is a type of neural tube defect in which the neural tube (the structure in an embryo that becomes the brain and spinal cord) does not completely close during development in the womb. This may result in part of the spinal cord sticking out through an opening in the spine, leading to permanent nerve damage. Babies born with spina bifida often have a fluid-filled sac, covered by skin, on their back. This is called a meningocele. If the sac contains part of the spinal cord and its protective covering, it is known as a myelomeningocele. The signs and symptoms of spina bifida can range from mild to severe, depending on the location and extent of spinal cord involvement.
Spina bifida is a condition in which the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. As a result, when the spine forms, the bones of the spinal column do not close completely around the developing nerves of the spinal cord. Part of the spinal cord may stick out through an opening in the spine, leading to permanent nerve damage. Because spina bifida is caused by abnormalities of the neural tube, it is classified as a neural tube defect. Children born with spina bifida often have a fluid-filled sac on their back that is covered by skin, called a meningocele.
Dorland's Illustrated Medical Dictionary (32nd ed.). Elsevier. p. 256. ... Demos Medical Publishing, 2009, 3rd ed, pages 115-116. ISBN 978-1-933864-35-8. ^ David McDougal; Dave Van-Lieshout; John Harting. ... Demos Medical Publishing, 2009, 3rd ed, page 115. ISBN 978-1-933864-35-8. ^ George Milbry Gould; James Hendrie Lloyd. ... Demos Medical Publishing, 2009, 3rd ed, page 114. ISBN 978-1-933864-35-8. ^ Jody Corey-Bloom; Ronal B. ... Demos Medical Publishing, 2009, 3rd ed, page 114. ISBN 978-1-933864-35-8. ^ Ataxia: Physical Therapy and Rehabilitation Applications for Ataxic Patients, 2014. http://cirrie.buffalo.edu/encyclopedia/en/article/112/#s4 ^ Ataxia: Physical Therapy and Rehabilitation Applications for Ataxic Patients, 2014. http://cirrie.buffalo.edu/encyclopedia/en/article/112/#s4 External links Classification D MeSH: D020235
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. ^ a b Ginsburg PM, Ehrenpreis ED. NORD Guide to Rare Disorders. Philadelphia PA: Lippincott Williams & Wilkins; 2003. ^ a b c Phelps RG, Shoji T. . ... Sleisenger & Fordtran’s Gastrointestinal and Liver Disease, 7th ed . In: . ... Habif: Clinical Dermatology, 4th ed. In: . Stasis dermatitis and venous ulceration: Postphlebitic syndromes. ... Fitzpatrick’s Dermatology in General Medicine, 6th ed. In: . Panniculitis.
Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression therapy.