Curly Hair Disease

Curly Hair Disease, also known as menkesia or menkesia, is a genetic disorder that is characterized by the presence of curly and fluffy hair on the head, neck, chest, arms and legs. This disease is the result of a mutation in the RBMXL1A gene, which is involved in the synthesis of a cis-loop in histones, which leads to structural changes in the protein.

Symptoms of kinky hair disease can vary depending on the severity of the disease, but common signs include the presence of frizz, frizz, and restricted hair growth. Patients with menkesia may experience itching and irritation of the scalp, especially around the follicles, hair loss, eczema and scalp changes. The most severe forms of the disease are those associated with hair loss and the appearance of ulcers and scars, which negatively affect the quality of life of patients.

Diagnosis of kinky hair disease involves taking a biopsy of the scalp or hair follicle to examine histological features. If mutations in the RBMXL1A gene are detected, genetic testing can be used to confirm the diagnosis. There is currently no known cure for the disease, but symptomatic treatment can mitigate some of its effects. Replacement therapy with drugs containing cysteine ​​is an antichlorsterol drug that can control pruritic conditions. Active clinical trials are currently underway on drugs targeting target genes. However, even if these new treatments become available, they may have a negative impact on the health of patients, and their use should be carried out under strict medical supervision, with careful analysis of all possible risks and contraindications.

Curly hair disease is common in children and can potentially affect their social adjustment and self-esteem. Due to its extensive social consequences, medical professionals have had to largely study and explain this complex etiology of the disease. Despite this, currently the curly hair disease