McKenzie Shanice A, Ni Catherine S, Hsiao Jennifer L
Dermatology, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, USA.
Cureus. 2019 Jun 22;11(6):e4970. doi: 10.7759/cureus.4970.
Hidradenitis suppurativa (HS) is an inflammatory disorder characterized by recurrent painful nodules and draining sinus tracts with subsequent scarring. HS has been associated with several dermatologic syndromes including the follicular occlusion tetrad, PASH (pyoderma gangrenosum, acne, and suppurativa hidradenitis), PAPASH (pyogenic arthritis, pyoderma gangrenosum, acne, and suppurativa hidradenitis), and SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndromes. However, aside from the well-established association between HS and Down Syndrome, it has rarely been reported in association with other multisystem genetic diseases. We report a case of HS in a 22-year-old man with Smith-Magenis syndrome (SMS), a developmental disorder caused by a chromosomal 17 microdeletion. Obesity and a tendency toward follicular occlusion are features of SMS that may have contributed to the development of HS in our patient. Interestingly, the patient also had several other follicular-based skin diseases including erythromelanosis follicularis faciei, keratosis pilaris, and acne keloidalis nuchae. Dermatologic findings in SMS have been characterized in the literature in the past, but to our knowledge, this is the first case of HS reported in a patient with SMS. We also provide a brief literature review of cases of HS occurring in patients with other multisystem genetic diseases.
化脓性汗腺炎（HS）是一种炎症性疾病，其特征为反复出现疼痛性结节和引流性窦道，并伴有后续瘢痕形成。HS与多种皮肤病综合征相关，包括毛囊闭锁四联症、PASH（坏疽性脓皮病、痤疮和化脓性汗腺炎）、PAPASH（化脓性关节炎、坏疽性脓皮病、痤疮和化脓性汗腺炎）以及SAPHO（滑膜炎、痤疮、脓疱病、骨质增生和骨炎）综合征。然而，除了HS与唐氏综合征之间已明确的关联外，很少有报道称其与其他多系统遗传性疾病相关。我们报告一例22岁患有史密斯-马吉尼斯综合征（SMS）的男性化脓性汗腺炎病例，SMS是一种由17号染色体微缺失引起的发育障碍。肥胖和毛囊闭锁倾向是SMS的特征，可能促使了我们这位患者发生HS。有趣的是，该患者还患有其他几种基于毛囊的皮肤病，包括面部毛囊性红斑黑变病、毛发角化病和项部瘢痕疙瘩性痤疮。过去文献中已有SMS皮肤病学表现的描述，但据我们所知，这是首例报道的患有SMS的患者发生HS的病例。我们还对其他多系统遗传性疾病患者中发生HS的病例进行了简要文献综述。
