pigmenti incontinentia co to znaczy
Co znaczy Incontinentia Pigmenti. Czym jest związaną z chromosomem X,polegającą na zaburzeniu.

Czy pomocne?

Definicja Incontinentia Pigmenti

Definicja z ang. incontinentia pigmenti, z niem. Bloch-Sulzberger-Syndrom.

Co to znaczy: /zespół Bloch-Sulzbergera/ jest rzadką 1:40.000, chorobą związaną z chromosomem X,polegającą na zaburzeniu pigmentacji skóry regularnie również połączoną z zaburzeniami oczu, zębów, oun. w zespole dochodzi do utraty melaniny w warstwie komórek podstawnych. dzieci wyglądają jak suszone śliwki.
częściej występuje u kobiet /1:19-1:37/ rasy białej, mężczyźni zwykle nie przeżywają. zmiany skórne widoczne są zaraz po urodzeniu.
pomniejszone wymiary,
opóźnione wyrzynanie,
niepoprawny kształt koron,
Usually, the diagnosis is made clinically on the basis of a history of sequential cutaneous lesions and associated features. Landy and Donnai (1993) have recommended diagnostic criteria.
A least 1 major criteria is necessary for a diagnosis of sporadic incontinentia pigmenti. Major criteria include the following:
o Typical neonatal rash
o Typical hyperpigmentation
o Linear, atrophic, hairless lesions.
Individuals with a least 1 first-degree female relative who was previously diagnosed with incontinentia pigmenti may also be diagnosed with minor criteria which include the following:
o Dental involvement
o Wooly hair, abnormal nails
o Retinal disease
Four stages of skin change occur in most patients, mostly on the body along the sides of the torso. Few males develop stage 4 lesions. The stages are as follows:
o Stage 1 is the vesicular stage, with linear vesicles, pustules, and bullae with erythema along the lines of Blaschko (see Images 1-2). This stage is present at birth but may recur during childhood with febrile illnesses.
o Stage 2 is the verrucous stage, with warty, keratotic papules and plaques. Stage 2 occurs between ages 2 and 8 weeks.
o Stage 3 is the hyperpigmented stage, with macular hyperpigmentation in a swirled pattern along the lines of Blaschko (see Images 3-4). These changes often involve the nipples, axilla, and groin. Stage 3 occurs between ages 12 and 40 weeks.
o Stage 4 is the hypopigmented stage, with hypopigmented streaks and/or patches and cutaneous atrophy. Stage 4 is present from infancy through adulthood.
o Recurrent papular skin eruptions have also been reported.
* Onychodystrophy or nail dysplasia occurs in 40-60% of patients with incontinentia pigmenti. Other nail changes can include subungual keratotic tumors.
* Ocular changes are seen in about one third of female patients and in two thirds of male patients with incontinentia pigmenti. The changes can include the following:
o Retinal pigmentary changes with mottled diffuse hypopigmentation, which is nearly pathognomonic
o Abnormal peripheral retinal vessels with areas of nonperfusion, which is also nearly pathognomonic
o Microphthalmia
o Retrolental mass formation (pseudoglioma or retinoblastoma with intraocular calcifications)
o Cataracts, leukocoria, or band keratopathy
o Strabismus
o Optic atrophy or foveal hypoplasia
o Congenital glaucoma
o Blue sclera
o Exudative retinal detachment can be very rapidly progressive (<6 mo) or fluctuating over many years.
o Retinal pigmentary changes
* Teeth and jaw changes occur in approximately 65-90% of patients. These changes can include delayed eruption of teeth; caries; partial anodontia; hypodontia; microdontia; abnormally shaped teeth—round, conical, or peg; micrognathia; prognathia; and gothic palate. Areas of focal hypermineralization and decreased enamel mineralization can also occur.
* The hair is thin and sparse; alopecia is seen in 35-70% of people with incontinentia pigmenti. The hair changes can include a wooly hair nevus, which is a coarse, lusterless, and wiry patch of hair.
* The central nervous mechanizm is involved in 10-40% of patients. The manifestations can include the following:
o Microcephaly
o Mental retardation
o Spasticity
o Seizures
o Ataxia
o Encephalopathy
o Hyperactivity
o Strokes (see Image 5)
* Skeletal and structural anomalies can occur in approximately 14% of patients but usually are associated with severe neurological deficits. The anomalies can include the following:
o Somatic asymmetry
o Hemivertebrae
o Scoliosis
o Spina bifida
o Syndactyly
o Acheiria (congential absence of the hands)
o Ear anomalies
o Extra ribs
o Skull deformities
* Breast anomalies can occur in 1% of patients; anomalies can include hypoplasia and supernumerary.
* Primary pulmonary hypertension
* Cardiopulmonary failure
Most cases are caused aby a deletion in the NEMO gene. Approximately one half of all cases are spontaneous mutations. Most of the new mutations occur in the germline cells in the father's gonads.
* Female carriers may have only subtle findings with stage 4 skin and teeth abnormalities.
* Males with XXY (ie, Klinefelter syndrome) have been reported. Other males who survived are believed to have postzygotic mutation, half chromatid mutation, an unstable permutation, somatic mosaicism, or hypomorphic mutations. Not all males have evidence of NEMO mutations and may have findings unilaterally or even just in one limb.
* Almost all women with incontinentia pigmenti have skewed inactivation of the defective X chromosome, which may become more pronounced over time, as it is not always detected in newborns.
* Other diagnostic considerations: The differential for multiorgan involvement includes the following:
o MIDAS syndrome - X-linked dominant dermato-ocular syndrome with similar skin changes but different eye changes
o Hypomelanosis of Ito (incontinentia pigmenti achromians) - Swirls or streaks of hypopigmentation and depigmentation; not inherited; no stage 1 or 2; 33-50% with multisystem involvement—eye, skeletal, neurological abnormalities; Xp11
o Focal dermal hypoplasia of Goltz - X-linked dominant disorder with similar findings, Xp22
o Naegeli syndrome - Autosomal dominant dermato-ocular syndrome with symptoms starting at age 2, mostly on the hands and feet, and similar ocular changes
o X-linked chondrodysplasia punctata—Has more skeletal dysplasia, congenital cataracts, and alopecia, as well as follicular pitting, which is not seen in incontinentia pigmenti
o Dyskeratosis congenita—Skin findings similar to stages 3 and 4 but no inflammatory changes. It also is associated with progressive pancytopenia with bone marrow failure being a frequent cause of death. This has been mapped to the DKC1 gene, which is proximal to the factor VIII gene on the X chromosome.
What is Incontinentia Pigmenti?
Incontinentia pigmenti (IP) is an inherited disorder of skin pigmentation that is also associated with abnormalities of the teeth, skeletal mechanizm, eyes, and central nervous mechanizm. It is one of a group of gene-linked diseases known as neurocutaneous disorders. In most cases, IP is caused aby mutations in a gene called NEMO (NF-kappaB essential modulator). Males are more severely affected than females. Discolored skin is caused aby excessive deposits of melanin (normal skin pigment). Most newborns with IP will develop discolored skin within the first two weeks. The pigmentation involves the trunk and extremities, is slate-grey, blue or brown, and is distributed in irregular marbled or wavy lines. The discoloration fades with age. Neurological problems include loss of brain tissue (known as cerebral atrophy), the formation of small cavities in the central white matter of the brain, and the loss of neurons in the cerebellar cortex. About 20% of children with IP will have slow motor development, muscle weakness in one or both sides of the body, mental retardation, and seizures. They are also likely to have visual problems, including crossed eyes, cataracts, and severe visual loss. Dental problems are also common, including missing or peg-shaped teeth. A related disorder, incontinentia pigmenti achromians, features skin patterns of light, unpigmented swirls and streaks that are the reverse of IP. Associated neurological problems are similar.
Is there any treatment?
The skin abnormalities of IP usually disappear aby adolescence or adulthood without treatment. Diminished vision may be treated with corrective lenses, medication, or, in severe cases, surgery. A specialist may treat dental problems. Neurological symptoms such as seizures, muscle spasms, or mild paralysis may be controlled with medication and/or medical devices and with the advice of a neurologist.
What is the prognosis?
Although the skin abnormalities usually regress, and sometimes disappear completely, there may be residual neurological difficulties.
What research is being done?
Researchers have begun to use genetic linkage studies to map the location of genes associated with the neurocutaneous disorders. Research supported aby the NINDS includes studies to understand how the brain and nervous mechanizm normally develop and function and how they are affected aby genetic mutations. These studies contribute to a greater understanding of gene-linked disorders such as IP, and have the potential to open promising new avenues of treatment.

Czym jest Incontinentia Pigmenti znaczenie w Słownik na I .