Kaushik Hitaishi, Mahajan Rahul, Dabas Garima, Shrivastava Niharika, Ashraf Raihan, De Dipankar, Pal Arnab, Kumar Rakesh, Handa Sanjeev
Department of Dermatology, Venereology and Leprology, PGIMER, Chandigarh, 160012, India.
Department of Biochemistry, PGIMER, Chandigarh, 160012, India.
Arch Dermatol Res. 2023 Apr;315(3):551-557. doi: 10.1007/s00403-022-02399-z. Epub 2022 Oct 3.
Though development of vitamin D deficiency and rickets in patients with congenital ichthyosis (CI) have recently been observed, yet exact cause of such association is not properly understood. To evaluate association between Vitamin D Receptor (VDR) polymorphism and CI, and to identify risk factors responsible for development of vitamin D deficiency in ichthyosis. In this cross-sectional study, detailed history of patients and controls was noted and certain biochemical investigations were made. Immunohistochemical staining of skin tissue was done for VDR expression in epidermal and dermal region of ichthyosis patients. VDR polymorphism was assessed in all participants. Ninety-six subjects, were recruited. Mean serum vitamin D was significantly lower among ichthyosis patients. Cdx-2 polymorphism was found to be significantly associated with ichthyosis (p = 0.009). Within the diseased group, Fok-1 (p = 0.035), age (p = 0.020) and alkaline phosphatase (ALP) (p = 0.007) emerged as factors which might be associated with vitamin D deficiency. Cdx2 polymorphism was significantly associated with CI patients. Also, association of Fok-1 polymorphism along with age and raised serum ALP levels emerged as potential factors for determining CI-related vitamin D deficiency.
尽管最近观察到先天性鱼鳞病（CI）患者中维生素D缺乏和佝偻病的发生情况，但这种关联的确切原因尚未完全明确。为了评估维生素D受体（VDR）多态性与CI之间的关联，并确定鱼鳞病中维生素D缺乏发生的危险因素。在这项横断面研究中，记录了患者和对照组的详细病史并进行了某些生化检查。对鱼鳞病患者的表皮和真皮区域的皮肤组织进行VDR表达的免疫组织化学染色。对所有参与者评估VDR多态性。招募了96名受试者。鱼鳞病患者的平均血清维生素D显著较低。发现Cdx-2多态性与鱼鳞病显著相关（p = 0.009）。在患病组中，Fok-1（p = 0.035）、年龄（p = 0.020）和碱性磷酸酶（ALP）（p = 0.007）成为可能与维生素D缺乏相关的因素。Cdx2多态性与CI患者显著相关。此外，Fok-1多态性与年龄以及血清ALP水平升高的关联成为确定CI相关维生素D缺乏的潜在因素。
