Extraordinary Case ReportIchthyosis Follicularis, Alopecia, and Photophobia Syndrome: A Case Report and a Pathological Insight Into Pilosebaceous AnomalyKamo, Mariko MD*; Ohyama, Manabu MD, PhD*; Kosaki, Kenjiro MD, PhD†; Amagai, Masayuki MD, PhD*; Ebihara, Tamotsu MD, PhD*; Nakayama, Junko MD, PhD‡; Ishiko, Akira MD, PhD*Author Information From the *Department of Dermatology and †Pediatrics, Keio University School of Medicine, Tokyo, Japan; and Department of ‡Pediatrics, Ibaraki Prefectural University of Health Sciences, Ami-machi, Ibaraki Japan. Sources of support and conflict of interests: None declared. Reprints: Manabu Ohyama, MD, PhD, Assistant professor, Department of Dermatology, Keio University School of Medicine, 35 Shinanomachi Shinjuku-ku Tokyo 160-8582 Japan (e-mail: [email protected]). The American Journal of Dermatopathology: June 2011 - Volume 33 - Issue 4 - p 403-406 doi: 10.1097/DAD.0b013e3181e8b562 Buy Metrics Abstract Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome (OMIM 308205) is an extremely rare X-linked oculocutaneous genetic disorder characterized by follicular keratotic papules, total to subtotal alopecia, and photophobia. Previous reports depicted the histopathological features of affected skin lesions, represented by marked follicular plugging and hypoplastic pilosebaceous structures. However, past studies provided limited pathological information of pilosebaceous unit anomaly. Here, we report a 3-year-old boy's case with this uncommon condition. In this case, scalp biopsy samples were processed by both vertical and transverse sectioning techniques, which enabled a more detailed and quantitative pathological analysis of pilosebaceous structures. In vertical slices, miniaturized anagen hair follicles with characteristic follicular plugs were observed. A transverse section identified abortive sebaceous glands in hair follicles, a finding rarely observed in vertical sections. In addition, a transverse slice demonstrated that the number of total hair follicles was not significantly decreased compared with the average hair follicle density in Asians, suggesting that the pilosebaceous hypoplasia might arise from impaired maturation, not from initiation defect, during hair follicle morphogenesis. This study provides a more comprehensive pathological insight into pilosebaceous anomaly in IFAP syndrome and substantiats the usefulness of the combination of vertical and transverse sectioning approaches in the pathological examination of congenital hypotrichosis, including IFAP syndrome. © 2011 Lippincott Williams & Wilkins, Inc.