Research Article Open Access Diallo et al., Dermatol Case Rep 2017,2:3 Dermatology Case Reports D e r m a t o lo g y C a s e R e p o r t Open Access Case Report Volume 2 • Issue 3 • 1000131 Dermatol Case Rep, an open access journal *Corresponding author: Moussa Diallo, Department of Dermatology, Aristide LeDantec University Hospital, Dakar, BP 6821 Dakar-Etoile, Senegal, Tel: 00 (221) 77 762 90 90, E-mail: moussante@hotmail.com Received: October 23, 2017; Accepted: November 23, 2017; Published: November 30, 2017 Citation: Diallo M, Touré M, Diop A, Diatta BA, Seck B, et al. (2017) Cerebrotendinous Xanthomatosis with Lung Involvement and Acquired Ichthyosis. Dermatol Case Rep 2: 131 Copyright: © 2017 Diallo M, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Cerebrotendinous Xanthomatosis with Lung Involvement and Acquired Ichthyosis Diallo M 1 *, Touré M 2 , Diop A 1 , Diatta BA 1 , Seck B 1 , Diadie S 1 , Deh A 1 , Diop K 1 and Niang SO 1 ¹Department of Dermatology, Aristide LeDantec University Hospital, Dakar, Senegal 2 Department of Internal Medicine, Aristide LeDantec University Hospital, Dakar, Senegal Abstract We report a case of a 28-year-old man with xanthomas over the extensors of the limbs, cataract, chronic diarrhea and various neurological disabilities. There was also an ichthyosis, which predominate over the lower limbs. Chest CT- scan showed bilateral apical opacities with cystic images in the culmen. Brain MRI revealed bilateral and symmetric T2 and FLAIR hyper-signals sequences in the region of dentate nucleus and adjacent cerebellar and periventricular white matter. We have reported the frst case of CTX in Senegal, which is remarkable by an acquired ichthyosis and excavated lung lesions simulating a tuberculosis. Keywords: Cerebrotendinous xanthomatosis; Cholestenol; Ichthyosis Introduction Te cerebrotendinous xanthomatosis (CTX) is a genetic condition resulting from a defciency of the mitochondrial sterol 27-sterol hydroxylase enzyme, leading mostly to cholestanol accumulation in various tissues [1]. Tose depositions are preferentially located in the crystalline lens, tendons and brain, explaining the classical triad of symptoms consisting of juvenile cataracts, xanthomas and various neurological disabilities [2]. However, lung involvement has rarely been described as a presentation of this entity [3]. On the skin, this disease manifests mainly by tendon xanthomas. To our knowledge, the presentation of acquired ichthyosis has not been reported yet. We report the case of a CTX with a lung involvement and an acquired ichthyosis. Case Presentation A 28-year-old man, born of a second-degree consanguineous marriage was admitted for nodular lesions over the extensors of the limbs, which has been gradually progressing for the past 8 years. Te history revealed the existence of a psychomotor retardation with delay in walking at the age of 5, recurrent chronic diarrhea since early childhood and at the age of 18, a gait difculty and abnormal movements associated with dizziness. Tere was also a notion of cataract surgery in his sister. Te dermatological examination revealed frm, painless, mobile, confuent and yellowish nodules of xanthomatous aspect, located bilaterally over elbows, knees, Achilles’ tendons and over the 2 nd , the 3 rd , and the 4 th fngers (Figure 1). Tere was also an ichthyosis, which predominantly afected the lower limbs (Figure 2). Te neurological examination revealed a cerebellar ataxia, a pyramidal syndrome and a cognitive dysfunction. Te ophthalmological examination showed crystalline opacities, suggestive of bilateral cortico-nuclear cataract. Standard laboratory investigations, among which serum cholesterol and triglycerides were normal. Te tests for serum cholestenol, urinary bile alcohols and the research of a mutation in the CYP27A1 gene were not available in our hospitals. Toxoplasmosis and HIV serologies were negative. Histopathological examination of a skin nodule was consistent with typical xanthoma. Te chest x-ray showed alveolar opacities in the lef upper lobe and a right apical infltrate. Chest CT-scan showed bilateral apical opacities with cystic images in the culmen (Figure 3). Magnetic resonance imaging (MRI) of brain revealed bilateral and symmetric T2 and FLAIR hyper-signals sequences in the region of dentate nucleus and adjacent cerebellar and periventricular white matter (Figure 4). In the absence of chenodeoxycholic acid, oral ursodesoxycholic acid was Figure 1: Xanthomas over hands and right elbow. Figure 2: Ichthyosis of the lower limbs and Xanthomas on Achilles’ tendons and knee.