Acrogeria is an extremely rare hereditary disease that belongs to the group of atrophic dermatoses. The symptoms of the disease are thinning and atrophy of the skin on the distal parts of the limbs, in some cases the forearm and face may be affected. Diagnosis is made on the basis of a study of the skin condition in patients with acrogeria, histological examination of the biopsy material, compilation of a hereditary history. Effective treatment has not been developed at the moment, vitamin preparations and biogenic stimulants are used with varying success.
94.4 Gottron Papules
Acrogeria (Gottron syndrome) is a rare form of atrophic dermatosis of the skin, affecting mainly the skin of the hands, feet, forearms, sometimes the face (especially in the nose). It was first described in 1941 by the German dermatologist H. Gottron. He also owns the theory that familial acrogeria is a weakened or abortive form of progeria (Getchinson-Guilford syndrome). Currently, there are no other popular theories of the development of this disease in scientific circles. The occurrence of acrogeria due to the significant rarity of the disease has not been determined. Dermatosis mainly affects women, but the causes of this phenomenon are also unclear. The presence of inheritance of acrogeria, the appearance of other symptoms and malformations characteristic of progeria against its background also speaks in favor of the Gottron theory.
Practically nothing is known about the immediate causes of hereditary atrophic dermatosis – by studying the hereditary history of patients, it was suggested that it is transmitted by an autosomal recessive type. The pathogenesis is practically not studied, various scientists put forward theories that with acrogeria there is a violation of the functions of fibroblasts of certain areas of the skin, defects in the structure and formation of collagen, pituitary insufficiency. Skin atrophy at the same time has similar changes with progeria, which, however, are located only on certain parts of the body. Whereas other characteristic manifestations of the Getchinson-Guilford syndrome (nanism, thinness of hair and early alopecia, hypoplasia of the genitals) with acrogeria are never recorded.
Manifestations of Gottron syndrome are usually found in girls, it is possible to detect them immediately after birth or in the first years of a child’s life. The skin on the hands and feet becomes thinner, acquires a yellowish, “parchment” appearance, very much like senile changes in the skin. Blood vessels are clearly visible through thinned skin.
Dermatological changes are possible not only on the limbs, but also on the face – for example, there is often a bright erythema on the face. In addition, atrophy of the skin with acrogeria can develop on the face, especially at the tip of the nose. At the same time, the appendages of the skin on the affected areas remain, the activity of sweating processes remains unchanged.
In addition to skin symptoms, acrogeria often has other manifestations. The most frequent of them is acromicry – a decrease in the relative size of the hands, the fingers are thinned, sometimes have a cone-shaped shape. Micrognathia, a violation of the formation of the dentition may be registered – in addition to curvatures and defects, there is a delay in the change of milk teeth to molars. A frequent companion of acrogeria is scleroderma, fragility and thinness of blood vessels. Because of this, bruises easily form on the skin of patients, even with minor exposure. In adults, symptoms of atrophic gastritis are also detected over time due to early involution of the gastric mucosa.
In clinical dermatology, the diagnosis of acrogeria is often not a problem due to the characteristic manifestations of the disease. However, the significant rarity of this condition may still lead to the fact that it will not be recognized immediately. In addition to the examination, histological studies of the skin biopsy, X-ray techniques, questioning the patient about the presence or absence of such changes in his relatives are used for diagnosis.
The histological picture of the affected skin in acrogeria is quite typical for atrophic dermatoses – pronounced atrophy of the dermis, degenerative and randomly arranged collagen and elastin fibers. At the same time, subcutaneous tissue can maintain a completely normal and healthy appearance, the same situation is with the epidermis – pathological changes affect only the dermis. Also, dystrophic changes of fibroblasts are observed in the biopsy – they are enlarged in size, have numerous inclusions in the form of vacuoles.
With acrogeria, changes also affect the structure of bones, especially the distal parts of the extremities. On radiographs, there is a compaction of the compact layer, bone infantilism, sometimes sclerosing processes are detected. By questioning the patient, you can make up his hereditary anamnesis – in many cases, manifestations of acrogeria were observed in his relatives, which indicates the genetic nature of the pathology. It is recommended to consult a geneticist.
Differential diagnosis should be carried out with acquired forms of heroderma, atrophic chronic acrodermatitis and other degenerative skin pathologies.
Etiotropic treatment of acrogeria does not exist today, since neither the etiology nor the pathogenesis of the disease have yet been determined. It is recommended to use general and local remedies that improve tissue nutrition – based on vitamins (tocopherol, retinol), calves’ blood hemoderivate, as well as angioprotectors. The effectiveness of these drugs varies from patient to patient.
Prognosis and prevention
The prognosis for the patient’s life is favorable, but in terms of recovery – uncertain or unfavorable. Patients should avoid significant mechanical effects on the affected areas of the skin, as this can lead to the development of bruises and scars, as well as accelerate the processes of atrophy.