Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype–genotype correlation in Japanese patients with 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. 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.

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“…This 25‐year‐old male2 had severe CVG and pachydermia. Histologically, focal dermal edema and weak but diffuse mucin deposition were noted.…”

Section: Patients and Techniquesmentioning

confidence: 89%

“…This 24‐year‐old male2 initially had no CVG on his scalp and was diagnosed with incomplete PDP. CVG gradually developed, changing the diagnosis to complete PDP 7.…”

Section: Patients and Techniquesmentioning

confidence: 99%

Pathological characterization of pachydermia in pachydermoperiostosis

Tanese

Niizeki

Seki

et al. 2015

The Journal of Dermatology

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“…The encoded protein is involved in mediating the uptake and clearance of prostaglandins in numerous tissues. 10 Thickening of eyelids, with mechanical ptosis is seen in PDP and has been aptly termed as "Blepharoptosis", to differentiate this kind of ptosis resulting from neurologic causes. Sebaceous gland hyperplasia and dermal mucin deposition contribute to eyelid thickening and the development of ptosis.…”

Section: Discussionmentioning

confidence: 99%

“…Sebaceous gland hyperplasia and dermal mucin deposition contribute to eyelid thickening and the development of ptosis. [7][8][9][10][11] Differential diagnosis includes acromegaly, secondary hypertrophic osteoarthropathy following lung, liver and intestinal malignancy, thyroid acropachy and syphilitic periostitis.…”

Section: Discussionmentioning

confidence: 99%

Touraine-Solente-Gole Syndrome: A Rare Case Report

Doshi¹

2017

DJO

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“…Three forms have been identified: complete (clubbing, periostosis, pachyderma, and cutis verticis gyrata), incomplete (without cutis verticis gyrata), and forme fruste (pachyderma with minimal skeletal changes) 1 . Two genes have been associated, HPGD and SLCO2A1 2 .…”

mentioning

confidence: 99%