Poikiloderma is a collective name for atrophic skin changes of congenital and acquired nature, which are also accompanied by pigmented and vascular disorders. Symptoms of this disease, depending on its causes, may be the development of erythema, atrophic changes, telangiectasia, hyper- and hypopigmentation on a significant or limited area of the body. Diagnosis of poikiloderma is based on the results of examination of the patient, the study of his anamnesis and lifestyle. For some forms, genetic analyses are used. Treatment of poikiloderma in most cases is symptomatic, using means that improve skin nutrition. In addition, therapy of the underlying disease, which provokes the development of skin changes, can improve the patient’s condition.
Poikiloderma is a manifestation of many dermatological, genetic and oncological diseases. Some forms of this pathology have recently been considered separate nosological units. Currently, the prevailing opinion among dermatologists is that these pathological skin changes are only the result of other lesions of various systems and organs or traumatic effects on tissues of physical and chemical factors. Poikiloderma was first described in 1868 by ophthalmologist A. Rotmund, who revealed a congenital disease with a combination of cataracts and atrophic skin changes. In the future, similar skin symptoms without ophthalmological manifestations were discovered by dermatologist M. Thompson in 1923. In subsequent years, acquired varieties of this condition were described, due to internal diseases of various nature and the impact of various factors on the skin. Poikiloderma is a relatively rare pathology, depending on the form it can occur in both children and adults, have a limited or widespread character.
The pathogenesis of poikiloderma is currently insufficiently studied. The reasons why skin atrophy develops in combination with pigmentation disorders and telangiectasias are still unknown. It was possible to determine that in some cases this condition acts as one of the leading symptoms of certain genetic diseases, for example, Rotmund-Thomson syndrome. This hereditary pathology is characterized by poikiloderma, nail dystrophy and other congenital malformations – the mutation affects the RecQ gene. According to some reports, there are other hereditary forms of poikiloderma, but reliable information confirming this assumption is not yet available.
Acquired forms of this dermatological pathology are more common, especially those caused by oncological processes in the body. Thus, poikiloderma is often diagnosed before the appearance of malignant skin lymphoma, fungal mycosis, lymphogranulomatosis and other similar diseases. Therefore, these skin manifestations should serve as a reason for a thorough examination of the patient’s body for oncological diseases. In addition, poikiloderma occurs against the background of lichen planus, dermatomyositis, scleroderma and other dermatological pathologies. Cases of the development of such a disorder against the background of autoimmune lesions of connective tissue – for example, systemic lupus erythematosus – are described.
The cause of other acquired forms of poikiloderma can be the effect on the skin of various physical and chemical factors or their combinations. An example of such a situation is skin disorders that develop as a result of penetration into the tissues of photosensitizing compounds (components of cosmetics, some drugs, in particular, antibiotics). These compounds increase the sensitivity of tissues to ultraviolet rays, therefore, even when exposed to moderate doses of UVI, patients may develop poikiloderma. Sometimes this dermatological condition is found in employees of chemical industries in contact with radioactive materials and X-rays.
Classification and symptoms
Despite the fact that not so long ago poikiloderma was “deprived” of the status of an independent disease, it has several clinical forms, which are characterized by different ages of onset of pathological changes, their severity, prognosis and other indicators. Due to this, according to the clinical course of pathology, it is possible to presume the causes that caused its appearance. Currently, most specialists in the field of dermatology distinguish four main types of poikiloderma:
- Poikiloderma in Rotmund-Thomson syndrome – skin manifestations of this hereditary disease with unclear inheritance (autosomal recessive or autosomal dominant with incomplete penetrance is assumed) are quite specific, therefore they were isolated into a separate type of this condition. Dermatological symptoms occur in early childhood (at the age of 3-6 months), usually first there is redness on the face, neck, upper and lower extremities. After a few months, typical symptoms of poikiloderma are found in the affected areas – skin atrophy, pigmentation disorders, telangiectasia. In addition, ophthalmological symptoms can be determined, for example, cataracts, hair dystrophy, thinning of eyebrow and eyelash hairs.
- Vascular atrophic poikiloderma Jacobi is a relatively common form of this condition, the causes of which lie in the development of oncological processes and some dermatological diseases (for example, parapsoriasis). It can occur at almost any age and on any part of the body, have both a limited and widespread character. A feature of this type of poikiloderma is the appearance of not only typical skin disorders (atrophy, hypo- and hyperpigmentation, telangiectasia), but also subcutaneous hemorrhages, peeling, nodules of various shapes and sizes. Often these symptoms are accompanied by general malaise, fever and manifestations of the underlying disease.
- Reticulated pigmented poikiloderma (Sivatt syndrome) is a rarer type of this pathology, which is characterized by a predominant lesion of the skin of the face and neck. The disease begins with the appearance of several hyperpigmented spots on the skin, which, gradually growing, merge with each other to form a continuous extensive focus. On the surface of the hyperpigmented area, a mesh pattern, telangiectasia and small nodules are determined. As poikiloderma progresses, skin atrophy develops, as a result of which the latter acquires a “parchment” appearance.
- Localized forms of poikiloderma always have acquired character and are caused by external influences: chemicals, heavy metals (including wearing jewelry containing nickel or other metals), frequent local hypothermia, exposure to UV and X-rays. The localization of lesions depends on the nature of the effect of the provoking factor, most often foci occur in open areas of the skin – face, neck, hands.
To diagnose poikiloderma, a dermatological examination method is used, a tissue biopsy on the affected areas followed by histological examination, questioning and examination of the patient’s anamnesis. Rotmund-Thomson syndrome can be determined by genetic analysis. Upon examination, a specialist can determine the clinical type of the condition, which will narrow down the range of possible causes of the disease. Histological examination reveals atrophy of the epidermis, infiltration of the dermis by lymphocytes and histiocytes, especially around blood vessels. Destruction of elastic fibers can also be observed. A feature of Sivatt’s poikiloderma is the presence of a large number of melanocytes in the dermis, which makes the pathohistological picture of the disease similar to toxic melanosis. A sharp increase in skin infiltration by lymphocytes, especially weakly differentiated ones, may indicate the degeneration of poikiloderma into malignant skin lymphoma or other oncological disease.
When studying the patient’s anamnesis (more often – with localized forms of this dermatological condition), human contact with various chemicals or constant exposure to various physical factors on the skin can be detected. The presence of poikiloderma in close relatives of the patient indicates the hereditary nature of the disease (for example, Rotmund-Thomson syndrome). To confirm the diagnosis, a genetic analysis can be performed that can confirm the presence of mutations in the RecQ gene. In the presence of poikiloderma, it also makes sense to use additional diagnostic methods to identify oncological pathologies, other skin or autoimmune diseases that could provoke this condition.
The therapy of poikiloderma depends on the causes that caused this skin disease (oncological processes, dermatological pathologies, external factors, heredity). Successful treatment of the underlying disease in many cases can significantly reduce the severity of skin disorders. In cases where the cause of poikiloderma is irreversible or difficult to treat (Rotmund-Thomson syndrome, systemic lupus erythematosus, parapsoriasis), local and general glucocorticosteroids and vitamin therapy are used. It is important to limit the patient’s contact with provoking environmental factors, especially with a localized form of the disease – cases are described when only these measures allowed to eliminate all manifestations of the disease with the exception of skin atrophy.
Prognosis and prevention
The prognosis of poikiloderma regarding the survival of patients depends on the cause of the pathology – this dermatological condition in itself is not life-threatening, but can act as a marker of menacing oncological diseases. Poikiloderma is of a long-term chronic nature, quite often affects mainly open areas of the body, which can cause aesthetic discomfort of the patient.
Even with successful therapy of the underlying pathology and proper supportive treatment, only part of the manifestations of poikiloderma (pigmentation disorders and telangiectasia) disappear, atrophic areas are extremely rarely restored. To prevent this condition and prevent its progression, it is necessary to limit the impact on the skin of UVI, low and high temperatures, aggressive chemicals and heavy metals, and treat dermatological and other diseases in a timely manner.