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Ichthyotic disorders
Published in Biju Vasudevan, Rajesh Verma, Dermatological Emergencies, 2019
Chanarian-Dorfman syndrome, also called neutral lipid storage disease with ichthyosis, is a rare autosomal recessive disorder where there is accumulation of triglycerides in all tissues. There is a mutation in the comparative gene identification (CGI) 58 gene located on chromosome 3p21. Ichthyosis is of the CIE phenotype. They usually present with collodion membrane at birth with ectropion and eclabium. Other clinical features include liver steatosis, hepatomegaly, muscle weakness, myopathy, ataxia, neurosensory deafness, subcapsular cataract, nystagmus, and mental retardation [14]. Diagnosis is confirmed by the presence of lipid droplets in granulocytes and monocytes in peripheral smear (Jordan anomaly).
An update on diagnosis and therapy of metabolic myopathies
Published in Expert Review of Neurotherapeutics, 2018
Disorders of the lipid metabolism are classified according to histological criteria into those with lipid depositions on histological investigations and those without lipid depositions. Those with lipid deposition include, for example, primary carnitine deficiency (PCD), multi-acyl-coenzyme-A dehydrogenase deficiency (MADD), and neutral lipid storage disease with myopathy (NLSD-M) (Table 1) [7]. Those without lipid depositions include, for example, carnitine palmitoyl-transferase-2 (CPT-2) deficiency, mitochondrial trifunctional protein deficiency (MTPD), and the very long chain acyl-coenzyme-A dehydrogenase deficiency (VLCAD). Metabolic myopathies due impaired lipid metabolism may be further divided into those with defective transport of fatty acids into mitochondria and those with impaired oxidation of fatty acids (FAODs) within mitochondria. Up to at least 25 enzymes and specific transport proteins in the β-oxidation pathway have been detected of which 18 have been associated with human disease [8]. Half of these may go along with myopathy (Table 1). Recently, mutations in the electron transfer flavoprotein dehydrogenase (ETFDH) have been identified, which go along with either glutaric aciduria or with lipid storage myopathy.
Skin damage in a patient with lipid storage myopathy with a novel ETFDH mutation responsive to riboflavin
Published in International Journal of Neuroscience, 2020
Hongliang Xu, Xin Chen, Yajun Lian, Shuya Wang, Tuo Ji, Lu Zhang, Shuang Li
Regarding the differential diagnosis, neutral lipid storage disease with skin involvement (ichthyosis) (Chanarin-Dorfman syndrome, OMIM 275630), a condition that has the similar clinical presentation, should be taken into account. Chanarin-Dorfman syndrome was caused by recessive mutations in ABHD5 gene [28,29]. For our case, the next generation sequence revealed no mutation in the ABHD5 gene and clinical features, including skin damage [30,31], MRI pattern of the thighs [32], and involvement of the organs [33,34] were different from Chanarin-Dorfman syndrome. Thus, the consideration of Chanarin-Dorfman syndrome could be excluded.
Jordans' Anomaly as a Red Flag for Neutral Lipid Storage Diseases
Published in Fetal and Pediatric Pathology, 2022
Moeinadin Safavi, Mohammad Vasei, Farzaneh Motamed
Jordans’ anomaly is the abnormal accumulation of lipid droplets in myeloid cells. It is associated with neutral lipid storage diseases caused by mutations in the PNPLA2 gene encoding adipose triglyceride lipase (ATGL) and the ABHD5 gene encoding a protein with α/β hydrolase fold working as a cofactor for ATGL. The former mutation causes neutral lipid storage disease with myopathy in adults, and the latter mutation results in a more severe type of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome) which can present in childhood [1–2].