Ichthyosis follicularis, alopecia, and photophobia syndrome: A case report and a pathological insight into pilosebaceous anomaly

Mariko Kamo, Manabu Ohyama, Kenjiro Kosaki, Masayuki Amagai, Tamotsu Ebihara, Junko Nakayama, Akira Ishiko

Research output: Contribution to journalArticle

9 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)403-406
Number of pages4
JournalAmerican Journal of Dermatopathology
Volume33
Issue number4
DOIs
Publication statusPublished - 2011 Jun 1

Keywords

  • alopecia
  • and photophobia (IFAP) syndrome
  • follicular plugging
  • ichthyosis follicularis
  • sebaceous hypoplasia
  • transverse section

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Dermatology

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