A Case Report of Pachydermoperiostosis by Multidisciplinary Diagnosis and Treatment

Jie ZHANG; Yan ZHANG; Li HUO; Ke LYU; Tao WANG; Ze'nan XIA; Xiao LONG; Kexin XU; Nan WU; Bo YANG; Weibo XIA; Rongrong HU; Limeng CHEN; Ji LI; Xia HONG; Yan ZHANG; Yagang ZUO

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A Case Report of Pachydermoperiostosis by Multidisciplinary Diagnosis and Treatment

VernacularTitle:多学科会诊综合诊治骨膜增生厚皮症1例
Author: Jie ZHANG ^{1
,

2
,

3} ; Yan ZHANG ^{2
,

3
,

4} ; Li HUO ^{2
,

3
,

5} ; Ke LYU ^{2
,

3
,

6} ; Tao WANG ^{1
,

2
,

3} ; Ze'nan XIA ^{2
,

3
,

7} ; Xiao LONG ^{2
,

3
,

7} ; Kexin XU ^{2
,

3
,

8} ; Nan WU ^{2
,

3
,

8} ; Bo YANG ^{2
,

3
,

8} ; Weibo XIA ^{2
,

3
,

9} ; Rongrong HU ^{2
,

3
,

10} ; Limeng CHEN ^{2
,

3
,

10} ; Ji LI ^{2
,

3
,

11} ; Xia HONG ^{1
,

2
,

2
,

3
,

12} ; Yan ZHANG ^{1
,

2
,

2
,

3
,

13} ; Yagang ZUO ^{1
,

2
,

3}
Author Information

1. Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
2. Peking Union Medical College, Beijing 100730, China
3. .
4. Department of Radiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
5. Department of Nuclear Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
6. Department of Ultrasound, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
7. Department of Plastic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
8. Department of Orthopedics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
9. Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
10. Department of Nephrology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
11. Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
12. Department of Psychology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
13. Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
Publication Type:Journal Article
Keywords: pachydermoperiostosis; multidisciplinary consultation; SLCO2A1 gene; COX-2 inhibitor
From: JOURNAL OF RARE DISEASES 2025;4(1):75-82
CountryChina
Language:Chinese
Abstract:
A 20-year-old male patient presented to the Department of Dermatology of Peking Union Medical College Hospital with complaints of an 8-year history of facial scarring, swelling of the lower limbs, and a 4-year history of scalp thickening. Physical examination showed thickening furrowing wrinkling of the skin on the face and behind the ears, ciliary body hirsutism, blepharoptosis, and cutis verticis gyrate. Both lower limbs were swollen, especially the knees and ankles. The skin of the palms and soles of the feet was keratinized and thickened. Laboratory examination using bone and joint X-ray showed periostosis of the proximal middle phalanges and metacarpals of both hands, distal ulna and radius, tibia and fibula, distal femurs, and metatarsals.Genetic testing revealed two variants in SLCO2A1, c.1658T > A and c.96+4A > C.Through multidisciplinary consultation, we confirmed the diagnosis of pachydermoperiostosis.