Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome: A Case Report and a Pathological Insight Into Pilosebaceous Anomaly
| Autor: | Kenjiro Kosaki, Tamotsu Ebihara, Masayuki Amagai, Akira Ishiko, Junko Nakayama, Manabu Ohyama, Mariko Kamo |
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| Rok vydání: | 2011 |
| Předmět: |
Male
Pathology medicine.medical_specialty Ichthyosis X-Linked Photophobia Hyperkeratosis Dermatology Hypotrichosis Pathology and Forensic Medicine medicine Humans Abnormalities Multiple integumentary system Ichthyosis business.industry Alopecia Microtomy Syndrome General Medicine medicine.disease Hair follicle Hypoplasia Dyskeratosis medicine.anatomical_structure Hair follicle morphogenesis Child Preschool Scalp medicine.symptom business |
| Zdroj: | The American Journal of Dermatopathology. 33:403-406 |
| ISSN: | 0193-1091 |
| DOI: | 10.1097/dad.0b013e3181e8b562 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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