Malformations of the foot and hand for the Gorlin-Goltz syndrome (a report of two clinical cases)

Коваленко-Клычкова Н.А., Клычкова И.Ю., Кенис В.М., Авдейчик Н.В.

Abstract


The Gorlin-Goltz syndrome is a genetically determined polyorganic syndrome of autosomal dominant type. The mutant gene is localized in chromosome 9, and the disease is associated with H 1A-A10, B14 antigens. Multiple basal cell tumors often develop in late childhood in case of the Gorlin-Goltz syndrome, but they can be congenital as well. Basaliomas can reach several hundred in number. The area of face, neck, trunk, and limbs is mainly affected. The pigment spots arranged longitudinally on the upper and lower limbs and having light-crimson color are stigmal signs of the syndrome. Bone abnormalities presented in 75-90% of patients: jaw cysts, kyphoscoliosis, bifid ribs, synostoses, prognathism, true hypertelorism, subcortical cystic changes in tubular and flat bones, extra fingers and toes developed sometimes. Cleft feet of different severity appear to be the leading sign. Treatment of patients with the Gorlin-Goltz syndrome is symptomatic. Recently, preparations of interferon group used as therapy. As a result of adjuvant immunotherapy, tumors can either regress completely, or inoperable tumors can become accessible for removal. The authors present two children with malformations of the upper and lower limbs treated in the Turner Institute. Surgical treatment performed for abnormalities of the hands and feet. Good functional results achieved in both cases. Postoperative wound healing, as well as skin and bone engraftment occurred in standard time. Surgical correction of limb deformities is an efficient way of treating orthopedic disorders for the Gorlin-Goltz syndrome.

Keywords


dermal dysplasia, malformations of the hands and feet , systemic skeletal and skin diseases

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