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Rothmund-Thomson syndrome: causes, symptoms, diagnosis, treatment
Last reviewed: 23.04.2024
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Rothmund-Thomson Syndrome (syn: Rickmund-Thomson Congenital Poiskilodermia) is a rare autosomal recessive disease, the defective gene is located on the 8th chromosome. An autosomal dominant type of inheritance is also possible, as evidenced by the description of the disease in the father and daughter. Characterized by poikilodermia in combination with increased photosensitivity, disturbances of keratinization and defects in the development of the skeleton, changes in the eyes, mainly in the form of juvenile cataracts, hypogonadism, dystrophies of teeth and nails, and sometimes mental retardation. Bullous forms are described. Bowen's disease, squamous cell carcinoma of the skin, and tumors of the digestive tract can be observed.
Pathomorphology of the Rothmund-Thomson syndrome. There are hyperkeratosis, thinning of the epidermis, in some cases, hydrophilic degeneration of basal epitheliocytes, uneven pigmentation of the latter and the phenomenon of incontinence of the pigment, which appears in the papillate layer of the dermis in melanophages. In addition, there is an expansion of the vessels, around which there may be small accumulations of lymphocytes, histiocytes and tissue basophils. Electron microscopic examination reveals intercellular edema in the basal and suprabasal layers of the epidermis, a significant amount of melanin in melanocytes of the basal and prickly layers. In the papillary layer of the dermis, fibrillar bodies with organelle remnants, multiple melanophages are revealed, tissue basophils with a pigment in the cytoplasm are found.
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