[Wooly hair syndrome. Clinical and microscopic study].

Three cases of wolly hair syndrome in the same family are reported (fig. 1; case IV-1, IV-2 and III-1). The abnormality is transmitted as a dominant autosomal trait. The main clinical features in our three patients were the fine, soft and frizzy woolly hair (fig.2) and generalized hypothrichosis. In the boy (case IV-2), atrophic follicular keratosis restricted to the cheeks developed during puberty. Serum and urinary copper and zinc levels, urinary aminoacid levels and the results of other laboratory and clinical examinations were normal. Hairs were examined by light microscopy under white light (WLM) and polarized light (PL) and by scanning electron microscopy (SEM). This study revealed the following abnormalities in most of the hair shafts: 1. The hairs were flat and appeared as oval or irregular on transverse sections (SEM; fig. 4 and 5). 2. Longitudinal and transverse grooves were present in the proximal part of the hair shaft, resulting in irregular contour of the hair. Striation of the cuticle cells was normal, with wearing of their free borders (PL, SEM; fig. 3b, 4 and 6). 3. Axial torsions were present in the proximal and distal parts of the hair. These torsions were irregular, occasional and different from true Pili torti (PL, SEM; fig. 3d and 7). 4. In the distal part of the hair the cuticle cells were either damaged or absent, with decomposition of the cortex (SEM, fig. 8), resulting in early fractures of the hairs: trichorrhexis nodosa, trichoschisis, trichoptilosis (PL; fig. 3e, f, g).(ABSTRACT TRUNCATED AT 250 WORDS)