title: Pathological characterization of pachydermia in pachydermoperiostosis.
abstract: Pachydermoperiostosis is a rare hereditary disease, which presents with the cutaneous manifestations of pachydermia and cutis verticis gyrata. Histological findings in pachydermia frequently include dermal edema, mucin deposition, elastic fiber degeneration, dermal fibrosis and adnexal hyperplasia. However, the severity of these findings varies between clinical reports, and a systematic multiple-case clinicopathological correlative analysis has not been performed to date. In the present study, we reviewed the skin biopsy specimens obtained from the pachydermia of six pachydermoperiostosis patients. The severity of the characteristic histological features was semiquantitatively evaluated and correlated with the grade of pachydermia. Dermal edema, mucin deposition and elastic fiber degeneration were observed in all cases. Patients with severe pachydermia had sebaceous gland hyperplasia and fibrosis. These results suggest that the triad of mucin deposition, dermal edema and elastic fiber degeneration are found from very early stage pachydermia, and could be considered diagnostic findings. To ensure an earlier diagnosis of pachydermoperiostosis, a biopsy should be taken when a patient has grade 1 pachydermia to determine the presence of this histological triad.
authors.affiliation: Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Keiji
authors.initials: K
authors.lastname: Tanese
authors.affiliation: Department of Dermatology, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Hironori
authors.initials: H
authors.lastname: Niizeki
authors.affiliation: Department of Orthopedics, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Atsuhito
authors.initials: A
authors.lastname: Seki
authors.affiliation: Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Otsuka
authors.affiliation: Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Kabashima
authors.affiliation: Department of Orthopaedic Surgery, University of Tokyo, Tokyo, Japan.
authors.forename: Keisuke
authors.initials: K
authors.lastname: Kosaki
authors.affiliation: Department of Plastic Surgery, Nara Medical University Hospital, Kashihara, Nara, Japan.
authors.forename: Masamitsu
authors.initials: M
authors.lastname: Kuwahara
authors.affiliation: Division of Dermatology, Kawasaki Municipal Hospital, Kanagawa, Japan.
authors.forename: Shun-Ichi
authors.initials: S
authors.lastname: Miyakawa
authors.affiliation: Department of Radiology, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Mikiko
authors.initials: M
authors.lastname: Miyasaka
authors.affiliation: Department of Pathology, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Kentaro
authors.initials: K
authors.lastname: Matsuoka
authors.affiliation: Department of Clinical Laboratory Medicine, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Torayuki
authors.initials: T
authors.lastname: Okuyama
authors.affiliation: Laboratory of Gene Medicine, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Aiko
authors.initials: A
authors.lastname: Shiohama
authors.affiliation: Center for Integrated Medical Research, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Sasaki
authors.affiliation: Laboratory of Gene Medicine, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Jun
authors.initials: J
authors.lastname: Kudoh
authors.affiliation: Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Masayuki
authors.initials: M
authors.lastname: Amagai
authors.affiliation: Department of Dermatology, Toho University School of Medicine, Tokyo, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Ishiko
mesh_terms: D000328:Adult; D005148:Facial Dermatoses / Q000209:etiology / Q000473:pathology*; D005546:Forehead; D006801:Humans; D008297:Male; D008875:Middle Aged; D010004:Osteoarthropathy, Primary Hypertrophic / Q000150:complications*; D012871:Skin Diseases / Q000209:etiology / Q000473:pathology*; D055815:Young Adult
keywords: dermal edema; elastic fiber degeneration; fibrosis; mucin deposition; pachydermoperiostosis; sebaceous hyperplasia