Uncombable hair syndrome, mental retardation, single palmar crease and arched palate in a patient with neurofibromatosis type I.

A 2-year-old girl presented with hair that naturally stood out from her scalp. Her mother reported that the girl's hair had been impossible to comb since the first month of life. The child's eyebrows and lashes were normal. Scanning electron microscopy confirmed the presence of grooving on the hair shaft. Moreover, eight cafè-au-lait macules larger than 5 mm on the trunk and the limbs, and freckles in the axillary regions were observed. Neurologic examination showed some difficulties in motor organization and dyslalia. Magnetic resonance imaging illustrated multiple cerebral hamartomas. Molecular analysis disclosed microdeletion of gene 17q.11.2. Additional features included arched palate, a single palmar crease on one hand and low-set ears, which, together with bone abnormalities, have been previously associated with uncombable hair. This is the first report, to the best of our knowledge, of uncombable hair syndrome in a patient with neurofibromatosis type I.