Original Article
Pyoderma gangrenosum, acne, pyogenic arthritis, and suppurative hidradenitis syndrome: a case study
Zihui Mao, Jiang′an Zhang, Jianbin Yu, Qian Ma, Ruixiang Cao, Lei Zhao, Xin Li, Yingying Chen, Lingyun Cheng
Published 2018-02-15
Cite as Chin J Dermatol, 2018, 51(2): 116-120. DOI: 10.3760/cma.j.issn.0412-4030.2018.02.007
Abstract
A 22-year-old male patient visited the Department of Dermatology of the First Affiliated Hospital of Zhengzhou University on October 31, 2016 due to dark red papules, nodules, pustules and cysts on the face, neck, back and in the axillary and inguinal regions for 6 years, and multiple dark purple plaques and ulcers on bilateral lower limbs for 1 year. Six years ago, the patient was diagnosed with acne in other hospital, and no treatment was given. One year ago, multiple purple plaques occurred on the bilateral lower limbs, which then ruptured and progressed into ulcers with diameters of 1-12 cm. On May 9, 2002, the patient visited the Department of Pediatric Medicine of the First Affiliated Hospital of Zhengzhou University due to the left knee joint swelling and pain for half a year. Laboratory examination showed negative rheumatoid factor, and smear examination of the left knee joint effusions revealed that there were neutrophils and a small amount of lymphocytes and monocytes in the joint effusions, and no abnormal cells were observed. Then, the patient was diagnosed with pyogenic arthritis of the left knee. Physical examination at admission showed poor general condition, walking difficulty, slightly increased blood pressure of 142/92 mmHg (1 mmHg= 0.133 kPa) , multiple purple plaques on the bilateral lower limbs with central ulcer formation. Histopathological examination of ulcer margin on the lower limbs showed ulceration, intercellular edema and infiltrating neutrophils in the epidermis, and edema, focal erythrocyte extravasation, diffuse infiltration of neutrophils, lymphocytes and histiocytes in the superficial and middle dermis. Clinical manifestations and pathological features confirmed a diagnosis of pyoderma gangrenosum. There were extensive inflammatory papules, pustules, abscesses and cysts on the face, neck, waist and back, and a small amount of dark red nodules on the axillary and inguinal regions, which were consistent with cystic acne and hidradenitis suppurativa. As PSTPIP1 gene sequencing showed, no mutations were found in exon fragments, while compound heterozygous mutations c.36+ 68 G > A, c.137+ 47 G > C and c.562+ 114 C > G het were found in intron fragments. Among 100 healthy controls, 45 carried the same mutations. So, these mutation sites were considered to be polymorphic sites, and the pathogenicity of these mutations was still unclear. Finally, the patient was diagnosed with PAPASH syndrome. The patient was treated with methylprednisolone, cefminox, isotretinoin and thalidomide, and the lesions were markedly improved after 2 weeks. Now the patient was still followed up.
Key words:
Pyoderma gangrenosum; Acne vulgaris; Hidradenitis suppurativa; Pyogenic arthritis; PAPASH syndrome
Contributor Information
Zihui Mao
Department of Dermatology, The First Affiliated Hospital of Zhengzhou University
Jiang′an Zhang
Department of Dermatology, The First Affiliated Hospital of Zhengzhou University
Jianbin Yu
Department of Dermatology, The First Affiliated Hospital of Zhengzhou University
Qian Ma
Center of Hereditary and Prenatal Diagnosis, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China
Ruixiang Cao
Department of Dermatology, The First Affiliated Hospital of Zhengzhou University
Lei Zhao
Department of Dermatology, The First Affiliated Hospital of Zhengzhou University
Xin Li
Department of Dermatology, The First Affiliated Hospital of Zhengzhou University
Yingying Chen
Department of Dermatology, The First Affiliated Hospital of Zhengzhou University
Lingyun Cheng
Department of Dermatology, The First Affiliated Hospital of Zhengzhou University