X-linked reticulate pigmentary disorder: Difference between revisions
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[[ | {{SI}} | ||
{{Infobox medical condition | |||
| name = X-linked reticulate pigmentary disorder | |||
| image = [[File:X-linked_recessive_(carrier_mother).svg|200px]] | |||
| caption = X-linked recessive inheritance pattern | |||
| synonyms = X-linked reticulate pigmentary disorder with systemic manifestations | |||
| field = [[Dermatology]], [[Genetics]] | |||
| symptoms = [[Skin pigmentation]], [[Recurrent infections]], [[Pulmonary fibrosis]], [[Renal failure]] | |||
| onset = [[Infancy]] | |||
| duration = [[Chronic]] | |||
| causes = [[Genetic mutation]] in the [[POLA1]] gene | |||
| risks = [[Family history]] | |||
| diagnosis = [[Genetic testing]], [[Clinical evaluation]] | |||
| differential = [[Other pigmentary disorders]], [[Immunodeficiency disorders]] | |||
| treatment = [[Symptomatic treatment]], [[Supportive care]] | |||
| prognosis = [[Variable]], depends on severity of systemic involvement | |||
| frequency = [[Rare disease]] | |||
}} | |||
[[file:01.bolnye-XLPDR.png|left|thumb]] '''X-linked reticulate pigmentary disorder''' (XLRPD) is a rare [[genetic disorder]] characterized by distinctive skin pigmentation, recurrent infections, and other systemic abnormalities. It is inherited in an [[X-linked recessive]] manner, meaning the gene responsible for the disorder is located on the [[X chromosome]]. | |||
== Clinical Features == | == Clinical Features == | ||
Individuals with XLRPD typically present with a reticulate (net-like) pattern of hyperpigmentation and hypopigmentation on the skin. This pigmentation often appears in infancy or early childhood and can affect various parts of the body, including the trunk, extremities, and face. Other common features include: | Individuals with XLRPD typically present with a reticulate (net-like) pattern of hyperpigmentation and hypopigmentation on the skin. This pigmentation often appears in infancy or early childhood and can affect various parts of the body, including the trunk, extremities, and face. Other common features include: | ||
* Recurrent [[bacterial infections]] | * Recurrent [[bacterial infections]] | ||
* [[Chronic diarrhea]] | * [[Chronic diarrhea]] | ||
| Line 10: | Line 26: | ||
* [[Lymphadenopathy]] (swollen lymph nodes) | * [[Lymphadenopathy]] (swollen lymph nodes) | ||
* [[Immune system]] abnormalities | * [[Immune system]] abnormalities | ||
== Genetics == | == Genetics == | ||
XLRPD is caused by mutations in the [[POLA1]] gene, which encodes the catalytic subunit of [[DNA polymerase alpha]]. This enzyme is essential for [[DNA replication]] and [[cell division]]. The disorder follows an X-linked recessive inheritance pattern, meaning that males are typically more severely affected than females. Females who carry one mutated copy of the gene may exhibit mild symptoms or be asymptomatic carriers. | XLRPD is caused by mutations in the [[POLA1]] gene, which encodes the catalytic subunit of [[DNA polymerase alpha]]. This enzyme is essential for [[DNA replication]] and [[cell division]]. The disorder follows an X-linked recessive inheritance pattern, meaning that males are typically more severely affected than females. Females who carry one mutated copy of the gene may exhibit mild symptoms or be asymptomatic carriers. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of XLRPD is based on clinical findings, family history, and genetic testing. [[Molecular genetic testing]] can identify mutations in the POLA1 gene, confirming the diagnosis. Additional tests may include: | The diagnosis of XLRPD is based on clinical findings, family history, and genetic testing. [[Molecular genetic testing]] can identify mutations in the POLA1 gene, confirming the diagnosis. Additional tests may include: | ||
* [[Skin biopsy]] to examine the pigmentation pattern | * [[Skin biopsy]] to examine the pigmentation pattern | ||
* [[Blood tests]] to assess immune function | * [[Blood tests]] to assess immune function | ||
* [[Imaging studies]] to evaluate organ involvement | * [[Imaging studies]] to evaluate organ involvement | ||
== Management == | == Management == | ||
There is no cure for XLRPD, and treatment is primarily supportive. Management strategies may include: | There is no cure for XLRPD, and treatment is primarily supportive. Management strategies may include: | ||
* Antibiotics for recurrent infections | * Antibiotics for recurrent infections | ||
* Nutritional support for growth and development | * Nutritional support for growth and development | ||
* Regular monitoring of organ function | * Regular monitoring of organ function | ||
* Immunoglobulin replacement therapy for immune deficiencies | * Immunoglobulin replacement therapy for immune deficiencies | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with XLRPD varies depending on the severity of the symptoms and the effectiveness of the management strategies. Early diagnosis and appropriate medical care can improve the quality of life and outcomes for affected individuals. | The prognosis for individuals with XLRPD varies depending on the severity of the symptoms and the effectiveness of the management strategies. Early diagnosis and appropriate medical care can improve the quality of life and outcomes for affected individuals. | ||
== See Also == | == See Also == | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
* [[X-linked recessive inheritance]] | * [[X-linked recessive inheritance]] | ||
* [[Immune system disorders]] | * [[Immune system disorders]] | ||
== References == | == References == | ||
{{Reflist}} | {{Reflist}} | ||
== External Links == | == External Links == | ||
{{No external links}} | {{No external links}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Dermatology]] | [[Category:Dermatology]] | ||
[[Category:Immunology]] | [[Category:Immunology]] | ||
[[Category:Pediatrics]] | [[Category:Pediatrics]] | ||
{{Genetics-stub}} | {{Genetics-stub}} | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 15:26, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| X-linked reticulate pigmentary disorder | |
|---|---|
.svg)
| |
| Synonyms | X-linked reticulate pigmentary disorder with systemic manifestations |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Skin pigmentation, Recurrent infections, Pulmonary fibrosis, Renal failure |
| Complications | N/A |
| Onset | Infancy |
| Duration | Chronic |
| Types | N/A |
| Causes | Genetic mutation in the POLA1 gene |
| Risks | Family history |
| Diagnosis | Genetic testing, Clinical evaluation |
| Differential diagnosis | Other pigmentary disorders, Immunodeficiency disorders |
| Prevention | N/A |
| Treatment | Symptomatic treatment, Supportive care |
| Medication | N/A |
| Prognosis | Variable, depends on severity of systemic involvement |
| Frequency | Rare disease |
| Deaths | N/A |
X-linked reticulate pigmentary disorder (XLRPD) is a rare genetic disorder characterized by distinctive skin pigmentation, recurrent infections, and other systemic abnormalities. It is inherited in an X-linked recessive manner, meaning the gene responsible for the disorder is located on the X chromosome.
Clinical Features[edit]
Individuals with XLRPD typically present with a reticulate (net-like) pattern of hyperpigmentation and hypopigmentation on the skin. This pigmentation often appears in infancy or early childhood and can affect various parts of the body, including the trunk, extremities, and face. Other common features include:
- Recurrent bacterial infections
- Chronic diarrhea
- Failure to thrive
- Hepatosplenomegaly (enlarged liver and spleen)
- Lymphadenopathy (swollen lymph nodes)
- Immune system abnormalities
Genetics[edit]
XLRPD is caused by mutations in the POLA1 gene, which encodes the catalytic subunit of DNA polymerase alpha. This enzyme is essential for DNA replication and cell division. The disorder follows an X-linked recessive inheritance pattern, meaning that males are typically more severely affected than females. Females who carry one mutated copy of the gene may exhibit mild symptoms or be asymptomatic carriers.
Diagnosis[edit]
The diagnosis of XLRPD is based on clinical findings, family history, and genetic testing. Molecular genetic testing can identify mutations in the POLA1 gene, confirming the diagnosis. Additional tests may include:
- Skin biopsy to examine the pigmentation pattern
- Blood tests to assess immune function
- Imaging studies to evaluate organ involvement
Management[edit]
There is no cure for XLRPD, and treatment is primarily supportive. Management strategies may include:
- Antibiotics for recurrent infections
- Nutritional support for growth and development
- Regular monitoring of organ function
- Immunoglobulin replacement therapy for immune deficiencies
Prognosis[edit]
The prognosis for individuals with XLRPD varies depending on the severity of the symptoms and the effectiveness of the management strategies. Early diagnosis and appropriate medical care can improve the quality of life and outcomes for affected individuals.
See Also[edit]
References[edit]
<references group="" responsive="1"></references>
External Links[edit]
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