Pathological characterization of pachydermia in pachydermoperiostosis

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....

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Published inJournal of dermatology Vol. 42; no. 7; pp. 710 - 714
Main Authors Tanese, Keiji, Niizeki, Hironori, Seki, Atsuhito, Otsuka, Atsushi, Kabashima, Kenji, Kosaki, Keisuke, Kuwahara, Masamitsu, Miyakawa, Shun-ichi, Miyasaka, Mikiko, Matsuoka, Kentaro, Okuyama, Torayuki, Shiohama, Aiko, Sasaki, Takashi, Kudoh, Jun, Amagai, Masayuki, Ishiko, Akira
Format Journal Article
LanguageEnglish
Published England Blackwell Publishing Ltd 01.07.2015
Wiley Subscription Services, Inc
John Wiley and Sons Inc
Subjects
Adult
Biopsy
Concise Communication
Concise Communications
dermal edema
elastic fiber degeneration
Facial Dermatoses - etiology
Facial Dermatoses - pathology
fibrosis
Forehead
Humans
Male
Middle Aged
mucin deposition
Osteoarthropathy, Primary Hypertrophic - complications
pachydermoperiostosis
sebaceous hyperplasia
Skin Diseases - etiology
Skin Diseases - pathology
Young Adult
pachydermoperiostosis
mucin deposition
dermal edema
fibrosis
sebaceous hyperplasia
elastic fiber degeneration
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Summary: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.
Bibliography:ArticleID:JDE12869
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Figure S1. Clinical and histological manifestations of dermal edema and fibrosis. Left column, clinical manifestations of the forehead. Middle column, hematoxylin-eosin (HE) staining, low-power magnification. Right column, HE staining, high-power magnification.Figure S2. Histological manifestations of mucin deposition and elastic fiber degeneration. Left column, Alcian blue staining. Middle column, elastica van Gieson (EVG) staining, low-power magnification. Right column, EVG staining, high-power magnification. The histological features in the biopsy from patient 1 are milder than those of the other patients. Only mucin deposition, focal edema and partial elastic fiber loss were observed. These three histological findings were also present in the samples obtained from all other patients. The histological features in the biopsies of patients 2-6 showed fibrosis and sebaceous gland hyperplasia, which tended to become more prominent as the severity of pachydermia increased.Figure S3. Representative histological findings of the control used in this study. The sections were stained as indicated. The histological scores were as follows: dermal edema (0), mucin deposition (0), elastic fiber degeneration (0), sebaceous gland hyperplasia (0; occupation rate of 3.33%) and dermal fibrosis (0).
National Center for Child Health and Development
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ISSN:0385-2407
1346-8138
DOI:10.1111/1346-8138.12869