Patrizi A, Manneschi V, Pini A, Baioni E, Ghetti P
DOI: 10.2340/0001555574135137

The authors report a case of a family in which a diagnosis of dyschromatosis symmetrica hereditaria was established by a clinical pattern of cutaneous lesions and by assessment of cellular DNA repair synthesis. The skin lesions were characterized by a mixture of hyperpigmented and hypopigmented macules and were localized on the back of the feet of three patients (two male brothers and one sister). All the patients also had small freckle-like pigmented macules on their face. The father presented large symmetrical hypopigmented vitiligo-like macules. In this patient, mottled pigmentation and depigmentation of the extremities had been present since childhood. In the four patients no cellular abnormalities in DNA repair ability were found. These data exclude a mild form of xeroderma pigmentosum. The daughter, a 9-year-old girl, had since the age of 7 also shown a neurological disorder diagnosed as idiopathic torsion dystonia. The authors emphasize the association of dyschromatosis symmetrica hereditaria, a rare cutaneous disease, with idiopathic torsion dystonia, a rare idiopathic neurological disease, in this young girl.