Rothmund-Thomson syndrome: causes, symptoms, diagnosis, treatment

Rothmund-Thomson syndrome (syn.: congenital poikiloderma of Rothmund-Thomson) is a rare autosomal recessive disease, the defective gene is located on the 8th chromosome. Autosomal dominant inheritance is also possible, as evidenced by the description of the disease in a father and daughter. It is characterized by poikiloderma in combination with increased photosensitivity, keratinization disorders and skeletal malformations, eye changes, mainly in the form of juvenile cataracts, hypogonadism, dystrophy of teeth and nails, and sometimes mental retardation. Bullous forms have been described. Bowen's disease, squamous cell skin cancer, and tumors of the digestive tract may be observed.

Pathomorphology of Rothmund-Thomson syndrome. Hyperkeratosis, thinning of the epidermis, in some cases hydropic dystrophy of basal epithelial cells, uneven pigmentation of the latter and phenomena of pigment incontinence, which is detected in the papillary layer of the dermis in melanophages, are noted. In addition, there is a dilation of blood vessels around which small clusters of lymphocytes, histiocytes and tissue basophils can be observed. Electron microscopic examination reveals intercellular edema in the basal and suprabasal layers of the epidermis, a significant amount of melanin in the melanocytes of the basal and spinous layers. Fibrillar bodies with organelle remnants, multiple melanophages are detected in the papillary layer of the dermis, tissue basophils with pigment in the cytoplasm are encountered.

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