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Retinoids in Other Skin Diseases
Published in Ayse Serap Karadag, Berna Aksoy, Lawrence Charles Parish, Retinoids in Dermatology, 2019
Uwe Wollina, Piotr Brzezinski, André Koch
Chanarin-Dorfman syndrome is an autosomal-recessive disease caused by mutations of alpha-beta hydrolase domain-containing 5 (ABHD5), a highly conserved regulator of adipose triglyceride lipase (ATGL)-mediated lipolysis. The disease belongs to the family of neutral lipid storage disorders with ichthyosis. A classical feature is the presence of Jordan's anomaly in leucocytes (87).
Neonatal erythroderma
Published in Biju Vasudevan, Rajesh Verma, Dermatological Emergencies, 2019
Aparna Palit, Arun C. Inamadar
Patients with keratitis ichthyosis deafness (KID) syndrome have transient erythroderma at or soon after birth [21]. Chanarin-Dorfman syndrome presents with erythroderma at birth due to generalized ichthyosis [21].
Diagnostic challenges in metabolic myopathies
Published in Expert Review of Neurotherapeutics, 2020
Corrado Angelini, Roberta Marozzo, Valentina Pegoraro, Sabrina Sacconi
Chanarin-Dorfman syndrome (CDS) or NLSD-I presents early-onset ichthyosis associated with mild myopathy, spleno-hepatomegaly and ocular signs i.e. cataract, nystagmus, strabismus, hearing loss, mild mental retardation, short stature, microcephaly [30,31]. The cytoplasm of granulocytes of NLSD patients shows the ‘Jordans’ anomaly’ in peripheral blood smear [32,33], i.e. multiple lipid vacuoles, present also in bone marrow smear [32,33]. In CDS, muscle abnormalities have been detected in about 40% of subjects [34]. Myopathy typically begins when patients are in their thirties, but it has also been described in young children [35,36,37]. CDS is due to molecular defects in the ABHD5 gene, which codifies for the activator of the ATGL lipase that can hydrolise triacyl-glycerol (TAG) in the complete absence of the ABHD5 protein.
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
Chanarin–Dorfman syndrome belongs to a group of autosomal recessive neutral lipid storage diseases. It is usually diagnosed by ichthyosis, raised CK and liver enzymes, and presence of characteristic lipid vacuoles in leukocytes especially granulocytes (Jordans’ anomaly). There are no guidelines regarding dietary management but a diet with moderate carbohydrate and low long-chain fatty acid with enriched medium-chain triglycerides may be useful [3–5].