Uncombable Hair Syndrome, Mental Retardation, Single Palmar Crease and Arched Palate in a Patient with Neurofibromatosis Type I Donatella Schena, M.D.,* Lerica Germi, M.D.,* Maria Rosa Zamperetti, M.D.,* Francesca Darra, M.D., Silvia Giacopuzzi, M.D., and Giampiero Girolomoni, M.D.,* *Department of Biomedical and Surgical Sciences, Section of Dermatology and Venereology,  Department of Neurological and Visual Sciences, Section of Child Neuropsychiatry, University of Verona, Verona, Italy Abstract: 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 cafe ` -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 hamarto- mas. Molecular analysis disclosed microdeletion of gene 17q.11.2. Addi- tional features included arched palate, a single palmar crease on one hand and low-set ears, which, together with bone abnormalities, have been pre- viously associated with uncombable hair. This is the first report, to the best of our knowledge, of uncombable hair syndrome in a patient with neurofi- bromatosis type I. The uncombable hair syndrome (UHS) is a rare dis- order of scalp hair, which usually starts in the first year of life, and tends to improve or disappear with age (1). In the typical form, the hair appears light silvery-blond and frizzy, stands away from the scalp and cannot be combed flat. It is often glistening or spangled. Eyebrows, eyela- shes and body hair are normal. Both sporadic and inherited forms have been reported, the latter with an autosomal dominant or recessive pattern and variable levels of penetrance. Patients with UHS have in general no physical, neurologic or mental abnormalities, but uncombable hair has been described in association with a variety of other ectodermic or bone dysplasias (1–3). Neurofibromatosis type 1 (NF-1) is a genetic disorder that primarily affects cell growth of neural tissues with diverse cutaneous, neurologic, skeletal and neoplastic manifestations, and learning disabilities. During child- hood, physical signs and symptoms may be limited, requiring careful evaluation and follow-up because the frequency of serious complications increases with age (4). Address correspondence to Donatella Schena, M.D., Diparti- mento di Scienze Biomediche e Chirurgiche, Sezione di Dermato- logia e Venereologia, Universita` di Verona, Piazzale A. Stefani 1, 37126 Verona, Italy, or e-mail: donatella.schena@azosp.vr.it. DOI: 10.1111/j.1525-1470.2007.00446.x Ó 2007 The Authors. Journal compilation Ó 2007 Blackwell Publishing, Inc. E73 Pediatric Dermatology, E73–E75, 2007