What are the other Names for this Condition? (Also known as/Synonyms)
- Partington Syndrome Type II
- X-Linked Reticulate Pigmentary Disorder with Systemic Manifestations
- XLPDR (X-Linked Reticulate Pigmentary Disorder)
What is X-Linked Reticulate Pigmentary Disorder? (Definition/Background Information)
- X-linked Reticulate Pigmentary Disorder is an extremely rare genetic disorder with prominent skin findings consisting of a hyperpigmentation of the skin
- The disorder manifest more severely in males than in females
- In females, the symptoms are usually mild with brown pigmentation of the skin. No systemic signs and symptoms are noted in females.
- In males however, the signs and symptoms are more severe with frequent systemic signs and symptoms.
- There are only nine cases of X-linked Reticulate Pigmentary Disorder diagnosed worldwide
- There are no definitive risk factors identified for the development of X-linked Reticulate Pigmentary Disorder
- The exact cause of the development of X-linked Reticulate Pigmentary Disorder is unknown
- The diagnosis of X-linked Reticulate Pigmentary Disorder is often difficult due to the rarity of the disorder. Many other similar conditions should be ruled out before arriving at a diagnosis.
- The complications due to X-linked Reticulate Pigmentary Disorder can be severe and frequently become worse as the individual ages.
- There is no cure for X-linked Reticulate Pigmentary Disorder. Treatment is usually given to help manage and improve the signs and symptoms.
- The prognosis of X-linked Reticulate Pigmentary Disorder is poor
Who gets X-Linked Reticulate Pigmentary Disorder? (Age and Sex Distribution)
- X-Linked Reticulate Pigmentary Disorder is a very rare disorder with only nine cases confirmed worldwide
- It may manifest during early childhood
- The disorder affects both males and females. However, XLPDR is reported to be more common in males compared to females
- No specific ethnic or racial predilection has been identified
What are the Risk Factors for X-Linked Reticulate Pigmentary Disorder? (Predisposing Factors)
- Currently, there are no definitive risk factors for the development of X-Linked Reticulate Pigmentary Disorder
- Among the cases reported, it is more common in males than females
It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.
Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.
What are the Causes of X-Linked Reticulate Pigmentary Disorder? (Etiology)
- The exact gene causing X-Linked Reticulate Pigmentary Disorder has not yet been identified
- Recent studies have shown that XLPDR is caused by a defect in the X chromosome. The region of X chromosome involved is the Xp21-Xp22 gene
What are the Signs and Symptoms of X-Linked Reticulate Pigmentary Disorder?
There are numerous signs and symptoms due to X-Linked Reticulate Pigmentary Disorder. The signs and symptoms can include skin symptoms and systemic symptoms.
Skin signs and symptoms associated with XLPDR may include:
- Increased pigmentation: The increased pigmentation occurs in a specific pattern called generalized reticular hyperpigmentation
- Individuals may also have bedraggled (disheveled) hair
Non-skin or systemic signs and symptoms that may occur include:
- Frequent lung infections
- Sensitivity to bright light (photophobia)
- Short stature due to growth retardation
- Gastrointestinal symptoms such as abdominal pain, diarrhea, and constipation
- Formation of kidney stones causing abdominal pain and urinary tract infections
- Webbed feet
- Thyroid signs and symptoms, either due to hyperthyroidism (increased thyroid activity) or hypothyroidism (due to decreased thyroid activity)
- Individuals may have frequent electrolyte imbalance causing a variety of signs and symptoms
It is important to note that the combination of signs and symptoms varies from individual to individual.
How is X-Linked Reticulate Pigmentary Disorder Diagnosed?
To arrive at a definitive diagnosis of X-Linked Reticulate Pigmentary Disorder it often requires multiple visits to a healthcare provider. Since it is a very rare disorder, accurate diagnosis is often delayed. In addition, there are many other symptoms that resemble other conditions resulting in an even delayed diagnosis.
The diagnostic methods for X-Linked Reticulate Pigmentary Disorder include:
- Complete physical examination with evaluation of medical history is a very important component at arriving at a diagnosis
- Currently, there is no specific blood test to definitively diagnose X-linked Reticulate Pigmentary Disorder
- Differential diagnosis of XLPDR includes a variety of syndromes. These syndromes should be excluded before arriving at a definitive diagnosis:
- Rothmund-Thomson syndrome
- Amyloidosis cutis dyschromica
- Incontinentia pigmenti
- Kindler syndrome
- Congenital dyskeratosis
Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.
What are the possible Complications of X-Linked Reticulate Pigmentary Disorder?
There are a wide variety of possible complications due to X-Linked Reticulate Pigmentary Disorder that an individual may develop. The set of complications varies from one individual to another. These complications include:
- Frequent lung infections (pneumonia)
- Electrolyte imbalance, which can cause multiple organ failure
- The formation of kidney stones, which can result in damage to the kidney and severe abdominal pain
- Gastrointestinal symptoms, such as abdominal pain, severe diarrhea, and constipation, causing significant distress
- Frequent urinary tract infection
- Thyroid function abnormalities, which can result in a variety of a signs and symptoms
- Loss of eyesight as the individual ages
The complications tend to increase in severity as the individual ages.
How is X-Linked Reticulate Pigmentary Disorder Treated?
There is no definitive treatment for X-Linked Reticulate Pigmentary Disorder. Treatment is usually administered to help manage the symptoms and complications of the disorder. The treatment steps may include:
- Antibiotics may be prescribed if an individual has a lung infection or frequent urinary tract infections
- If there is an electrolyte imbalance, than appropriate replacement of the electrolytes is necessary
- Individuals with X-Linked Reticulate Pigmentary Disorder usually have abnormal temperature regulation, meaning they cannot maintain their body temperature. This is because they often do not sweat. Appropriate hydration is often required to help maintain body temperature
How can X-Linked Reticulate Pigmentary Disorder be Prevented?
- Currently, there are no specific methods or guidelines to prevent X-Linked Reticulate Pigmentary Disorder
- Active research is currently being performed to explore possibilities for treatment and prevention of inherited and acquired genetic disorders
What is the Prognosis of X-Linked Reticulate Pigmentary Disorder? (Outcomes/Resolutions)
- Individuals with X-Linked Reticulate Pigmentary Disorder have severe signs and symptoms as they age. The prognosis depends upon the severity of the signs and symptoms
- In general, the prognosis of XLPDR is poor
Additional and Relevant Useful Information for X-Linked Reticulate Pigmentary Disorder:
- Partington and others in 1981 first described X-Linked Reticulate Pigmentary Disorder
- Initially, XLPDR was known as Familial Cutaneous Amyloidosis or X-Linked Cutaneous Amyloidosis. This is because when the skin was examined under a microscope, it showed amyloid-like material. However, studies have shown that even though it appears amyloid-like, the material deposited in the skin is not amyloid