1.What are the types of ichthyosis, and what are the different symptoms and hazards?
Ichthyosis is a group of hereditary keratosis disorder skin diseases, which mainly manifests as dry skin with ichthyotic flaking. There are many subtypes of ichthyosis, mainly including common ichthyosis, sex-linked recessive ichthyosis, lamellar ichthyosis, epidermolysis bullosa hyperkeratotic ichthyosis, and congenital non-herpetic ichthyosis-like erythrodermatosis. There are also some rare types: fire cotton gum infants, fetal ichthyosis, KID syndrome, Northerton syndrome, Siemens herpetic ichthyosis, etc.
Common ichthyosis: this type is the most common type of ichthyosis, one or both parents of the patient usually suffer from the disease, and there is no significant gender difference in the onset. It is usually heavy in winter and light in summer. Infants and young children can develop the disease, mostly involving the extensor side of the lower limbs, especially the calf is the most significant, the flexor side of the limbs and folds are not involved. The typical lesions are light brown to dark brown rhombic or polygonal scales with central fixation and free edges, like fish scales; there may be follicular keratotic papules on the buttocks and extremities, and palmoplantar hyperkeratosis.
Sex-linked recessive ichthyosis: less common, early onset in infants, mostly seen in males, females are mostly carriers, generally not affected. It can involve the whole body, with the extensor side of the limbs and lower trunk, the front of the shin being obvious, and the face and neck are often involved. The manifestation is similar to that of common ichthyosis, but the disease is more severe, with dry and rough skin, large and significant scales, yellowish brown or black large ichthyosis, generally no follicular keratinization, palmoplantar without hyperkeratosis; patients may be accompanied by cryptorchidism, cornea may be dotted cloudy. The condition does not decrease with age.
The remaining types are very rare in clinical practice, and need to be clearly diagnosed by professional physicians in combination with relevant examinations, so we will not dwell on them here.
2.Is ichthyosis diagnosed by skin symptoms and do I need other methods to assist?
Most of the ichthyosis can be diagnosed through clinical manifestations, but a few, such as epidermolysis bullosa hyperkeratosis ichthyosis, need to be clearly diagnosed by combining with histopathology.
3.Do I need to do laboratory tests to determine the type of disease? What is the need for skin pathology?
The diagnosis of ichthyosis is mainly based on clinical symptoms, for example, the differentiation between common ichthyosis and sex-linked recessive ichthyosis can be clarified by the location of onset, characteristics of lesions, presence of palmoplantar keratosis, follicular papules, and whether the disease decreases with age.
For patients with epidermolysis bullosa hyperkeratotic ichthyosis; or patients with ichthyosis-like rash, the physician suspects that it may be dermatolymphoma; or patients with multiple ichthyosis-like thickened skin in normal human body, pathological examination is often needed to clarify the diagnosis.
4.Do I need to do genetic testing to determine the type of ichthyosis?
In recent years, the development of genetic genetics has made it possible to partially clarify the causative genes of each type of ichthyosis. Ichthyosis vulgaris is an autosomal dominant disease with incomplete episomal rate. It is currently thought to be due to mRNA instability and defective post-transcriptional control mechanisms. Sex-linked recessive ichthyosis is an X-chromosome chain invisible inheritance. Steroid sulfate esterase gene (STS) deletion or mutation, resulting in sulfate cholesterol accumulation, tightly bound stratum corneum cells cannot be shed normally, forming scales. Laminar ichthyosis is inherited in an autosomal recessive manner. Mutations, deletions or insertions in multiple loci, including 2q33-35, 19p12-q12, and the TGM1 gene located at 14q11, cause defects in cell adhesion and cross-linking of cell membrane proteins.
Doing genetic testing can help in the diagnosis and typing of ichthyosis disease, but at present, related genetic testing is rarely carried out routinely in the clinic, and mostly used for scientific research work.
5.What are the different treatment methods for different types of ichthyosis?
Different types of ichthyosis do not differ much in terms of treatment of lesions alone, mainly symptomatic treatment and topical moisturizer to keep the skin moist. Some severe patients may take vitamin A or retinoic acid orally. Topical glucocorticoid ointment or retinoic acid ointment can be used.
6. Is it necessary to use medication once ichthyosis is diagnosed, and can it be improved only by changing the lifestyle?
The severity of the disease varies from patient to patient, for example, for patients with common type ichthyosis, the mild condition only shows dry skin and fine scales in winter, and it naturally relieves in summer. For these patients, they only need to take a bath in winter with water temperature not too high, wear cotton clothes and rub some moisturizing milk after bathing.
7.What topical medications can be used to treat ichthyosis? What is the effect?
Generally, you can use moisturizing creams for ichthyosis, and you can use vitamin A drugs for the thickened skin. The majority of patients can receive satisfactory results by using topical medications.
8.When do I need to treat with oral medication? What oral medications can be used and which medications are not suitable for minors?
For patients with extensive skin involvement, severe dryness, thickening and flaking, who do not respond well to topical moisturizing creams or topical retinoids alone, the addition of oral retinoids can be considered. This type of drug may have certain effects on liver function, blood lipids, and bone development, so it is necessary to seek the advice of a specialist before application. For severe itching, the addition of anti-allergy drugs such as loratadine can be considered.
9.When can I stop taking the medication? What is the effect of not taking the medication according to the treatment schedule on the treatment?
Usually, serious patients taking retinoic acid drugs such as Aveline and isotretinoin for 2-3 months can receive better results, and then can gradually reduce the dosage under the guidance of professional physicians, and generally the course of treatment needs to last for several months. In clinical practice, some patients do not take medication regularly because they are worried about the side effects of medication, which often leads to unsatisfactory results.
10.Is ichthyosis prone to recurrence and what season is it prone to recurrence?
Ichthyosis is a disease prone to recurrence, usually heavy in winter and light in summer. The current treatment is mainly symptomatic relief.
11.Do you use the same treatment plan after relapse?
The same treatment regimen is usually still effective after relapse.
12.Do I need to use hormones to treat ichthyosis?
The treatment of ichthyosis usually does not require the use of hormones. However, hormones may be considered in cases of severe itching, hypertrophic lesions, or to reduce the irritation of retinoids.
13.Is there any physical therapy for ichthyosis treatment?
For example, hot spring baths and wheatstone baths can also be effective for ichthyosis patients.