Focal dermal hypoplasia: Difference between revisions
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{{Infobox medical condition | |||
| name = Focal dermal hypoplasia | |||
| image = [[File:X-linked_dominant_(affected_mother).svg|200px]] | |||
| caption = Focal dermal hypoplasia is inherited in an [[X-linked dominant]] pattern. | |||
| synonyms = Goltz syndrome, Goltz-Gorlin syndrome | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Skin]] abnormalities, [[skeletal]] malformations, [[eye]] defects, [[dental]] issues | |||
| onset = [[Congenital]] | |||
| duration = Lifelong | |||
| causes = Mutations in the [[PORCN]] gene | |||
| risks = | |||
| diagnosis = [[Clinical diagnosis]], [[genetic testing]] | |||
| differential = [[Incontinentia pigmenti]], [[Ectodermal dysplasia]] | |||
| treatment = [[Symptomatic treatment]], [[surgical intervention]] | |||
| medication = | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''Focal dermal hypoplasia''' is a rare genetic disorder that primarily affects the skin, skeleton, eyes, and face. The condition is also known as '''Goltz syndrome'''. | '''Focal dermal hypoplasia''' is a rare genetic disorder that primarily affects the skin, skeleton, eyes, and face. The condition is also known as '''Goltz syndrome'''. | ||
[[File:PORCN gene position.jpeg|left|thumb|The molecular Location of the PORCN gene on the X chromosome: base pairs 48,367,346 to 48,379,201]] | |||
[[File:PORCN gene position.jpeg|thumb | |||
== Symptoms == | == Symptoms == | ||
The symptoms of focal dermal hypoplasia are highly variable and can include [[skin abnormalities]], [[skeletal abnormalities]], and [[eye abnormalities]]. Some individuals may also have [[facial abnormalities]] and [[intellectual disability]]. | The symptoms of focal dermal hypoplasia are highly variable and can include [[skin abnormalities]], [[skeletal abnormalities]], and [[eye abnormalities]]. Some individuals may also have [[facial abnormalities]] and [[intellectual disability]]. | ||
=== Skin Abnormalities === | === Skin Abnormalities === | ||
The skin abnormalities associated with focal dermal hypoplasia are present at birth and can include patches of thin, wrinkled skin, areas of [[hyperpigmentation]] and [[hypopigmentation]], and small clusters of blood vessels just under the skin. | The skin abnormalities associated with focal dermal hypoplasia are present at birth and can include patches of thin, wrinkled skin, areas of [[hyperpigmentation]] and [[hypopigmentation]], and small clusters of blood vessels just under the skin. | ||
=== Skeletal Abnormalities === | === Skeletal Abnormalities === | ||
Skeletal abnormalities can include short stature, [[scoliosis]], and abnormalities of the hands and feet, such as [[syndactyly]] (fusion of the fingers or toes) or [[polydactyly]] (extra fingers or toes). | Skeletal abnormalities can include short stature, [[scoliosis]], and abnormalities of the hands and feet, such as [[syndactyly]] (fusion of the fingers or toes) or [[polydactyly]] (extra fingers or toes). | ||
=== Eye Abnormalities === | === Eye Abnormalities === | ||
Eye abnormalities can include [[microphthalmia]] (small eyes), [[coloboma]] (a hole in the eye), and [[strabismus]] (crossed eyes). | Eye abnormalities can include [[microphthalmia]] (small eyes), [[coloboma]] (a hole in the eye), and [[strabismus]] (crossed eyes). | ||
=== Facial Abnormalities === | === Facial Abnormalities === | ||
Facial abnormalities can include a small, pointed chin, a flat nasal bridge, and a cleft or split in the upper lip ([[cleft lip]]) or palate ([[cleft palate]]). | Facial abnormalities can include a small, pointed chin, a flat nasal bridge, and a cleft or split in the upper lip ([[cleft lip]]) or palate ([[cleft palate]]). | ||
== Causes == | == Causes == | ||
Focal dermal hypoplasia is caused by mutations in the [[PORCN]] gene. This gene provides instructions for making a protein that is involved in the development of many tissues and organs before birth. | Focal dermal hypoplasia is caused by mutations in the [[PORCN]] gene. This gene provides instructions for making a protein that is involved in the development of many tissues and organs before birth. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of focal dermal hypoplasia is based on the presence of characteristic symptoms. Genetic testing can confirm the diagnosis. | The diagnosis of focal dermal hypoplasia is based on the presence of characteristic symptoms. Genetic testing can confirm the diagnosis. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for focal dermal hypoplasia. Treatment is aimed at managing the symptoms and can include surgery to correct skeletal abnormalities, skin care to manage skin abnormalities, and special education services for those with intellectual disability. | There is currently no cure for focal dermal hypoplasia. Treatment is aimed at managing the symptoms and can include surgery to correct skeletal abnormalities, skin care to manage skin abnormalities, and special education services for those with intellectual disability. | ||
== See also == | == See also == | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
| Line 33: | Line 43: | ||
* [[Eye disorders]] | * [[Eye disorders]] | ||
* [[Facial disorders]] | * [[Facial disorders]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Skin disorders]] | [[Category:Skin disorders]] | ||
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| Focal dermal hypoplasia | |
|---|---|
| File:X-linked dominant (affected mother).svg | |
| Synonyms | Goltz syndrome, Goltz-Gorlin syndrome |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Skin abnormalities, skeletal malformations, eye defects, dental issues |
| Complications | N/A |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the PORCN gene |
| Risks | |
| Diagnosis | Clinical diagnosis, genetic testing |
| Differential diagnosis | Incontinentia pigmenti, Ectodermal dysplasia |
| Prevention | N/A |
| Treatment | Symptomatic treatment, surgical intervention |
| Medication | |
| Prognosis | N/A |
| Frequency | Rare |
| Deaths | |
Focal dermal hypoplasia is a rare genetic disorder that primarily affects the skin, skeleton, eyes, and face. The condition is also known as Goltz syndrome.
Symptoms[edit]
The symptoms of focal dermal hypoplasia are highly variable and can include skin abnormalities, skeletal abnormalities, and eye abnormalities. Some individuals may also have facial abnormalities and intellectual disability.
Skin Abnormalities[edit]
The skin abnormalities associated with focal dermal hypoplasia are present at birth and can include patches of thin, wrinkled skin, areas of hyperpigmentation and hypopigmentation, and small clusters of blood vessels just under the skin.
Skeletal Abnormalities[edit]
Skeletal abnormalities can include short stature, scoliosis, and abnormalities of the hands and feet, such as syndactyly (fusion of the fingers or toes) or polydactyly (extra fingers or toes).
Eye Abnormalities[edit]
Eye abnormalities can include microphthalmia (small eyes), coloboma (a hole in the eye), and strabismus (crossed eyes).
Facial Abnormalities[edit]
Facial abnormalities can include a small, pointed chin, a flat nasal bridge, and a cleft or split in the upper lip (cleft lip) or palate (cleft palate).
Causes[edit]
Focal dermal hypoplasia is caused by mutations in the PORCN gene. This gene provides instructions for making a protein that is involved in the development of many tissues and organs before birth.
Diagnosis[edit]
The diagnosis of focal dermal hypoplasia is based on the presence of characteristic symptoms. Genetic testing can confirm the diagnosis.
Treatment[edit]
There is currently no cure for focal dermal hypoplasia. Treatment is aimed at managing the symptoms and can include surgery to correct skeletal abnormalities, skin care to manage skin abnormalities, and special education services for those with intellectual disability.
See also[edit]
- Genetic disorders
- Skin disorders
- Skeletal disorders
- Eye disorders
- Facial disorders
- http://www.orpha.net/consor/www/cgi-bin/OC_Exp.php?lng=EN&Expert=2092
- GeneReview/NIH/UW entry on Focal dermal hypoplasia
| X-linked disorders |
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