X-linked reticulate pigmentary disorder
X-linked reticulate pigmentary disorder
X-linked reticulate pigmentary disorder (XLRPD), pronounced as /ɛksˈlɪŋkt ˈrɛtɪkjuːleɪt pɪɡˈmɛntəri dɪsˈɔːdər/, is a rare genetic disorder that primarily affects males. The term "X-linked" refers to the disorder being associated with the X chromosome, while "reticulate" and "pigmentary" describe the characteristic skin changes seen in this condition.
Etymology
The term "X-linked reticulate pigmentary disorder" is derived from its genetic origin and its primary symptom. "X-linked" refers to the disorder's inheritance pattern, as it is passed down through the X chromosome. "Reticulate" is derived from the Latin word "reticulum", meaning "net", and describes the net-like pattern of skin pigmentation seen in affected individuals. "Pigmentary" refers to the involvement of skin pigmentation in the disorder.
Symptoms
The primary symptom of XLRPD is a reticulate (net-like) pattern of hyperpigmentation on the skin. Other symptoms can include immunodeficiency, inflammatory bowel disease, and recurrent respiratory infections.
Causes
XLRPD is caused by mutations in the POLA1 gene, which is located on the X chromosome. This gene provides instructions for making a protein that is involved in the replication of DNA.
Diagnosis
Diagnosis of XLRPD is based on clinical examination, family history, and genetic testing to identify mutations in the POLA1 gene.
Treatment
There is currently no cure for XLRPD. Treatment is symptomatic and supportive, and may include management of skin symptoms, immunodeficiency, and respiratory infections.
Related Terms
External links
- Medical encyclopedia article on X-linked reticulate pigmentary disorder
- Wikipedia's article - X-linked reticulate pigmentary disorder
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski