Beneficial effect of acitretin in Chanarin-Dorfman syndrome

Israeli, Shirli; Pessach, Yakov; Sarig, Ofer; Goldberg, Ilan; Sprecher, Eli

doi:10.1111/j.1365-2230.2011.04164.x

Cited by 31 publications

(24 citation statements)

References 10 publications

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“…Hyperkeratosis of the palms and soles and pruritis often occur. Severe cases present as collodion babies, with a desquamating membrane and underlying erythroderma (Israeli et al 2012).…”

Section: Cgi-58 Deficiency (Nlsdi)mentioning

confidence: 99%

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Inborn errors of cytoplasmic triglyceride metabolism

Yang

Wang

et al. 2014

J of Inher Metab Disea

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Triglyceride (TG) synthesis, storage, and degradation together constitute cytoplasmic TG metabolism (CTGM). CTGM is mostly studied in adipocytes, where starting from glycerol-3-phosphate and fatty acyl (FA)-coenzyme A (CoA), TGs are synthesized then stored in cytoplasmic lipid droplets. TG hydrolysis proceeds sequentially, producing FAs and glycerol. Several reactions of CTGM can be catalyzed by more than one enzyme, creating great potential for complex tissue-specific physiology. In adipose tissue, CTGM provides FA as a systemic energy source during fasting and is related to obesity. Inborn errors and mouse models have demonstrated the importance of CTGM for non-adipose tissues, including skeletal muscle, myocardium and liver, because steatosis and dysfunction can occur. We discuss known inborn errors of CTGM, including deficiencies of: AGPAT2 (a form of generalized lipodystrophy), LPIN1 (childhood rhabdomyolysis), LPIN2 (an inflammatory condition, Majeed syndrome, described elsewhere in this issue), DGAT1 (protein loosing enteropathy), perilipin 1 (partial lipodystrophy), CGI-58 (gene ABHD5, neutral lipid storage disease (NLSD) with ichthyosis and "Jordan's anomaly" of vacuolated polymorphonuclear leukocytes), adipose triglyceride lipase (ATGL, gene PNPLA2, NLSD with myopathy, cardiomyopathy and Jordan's anomaly), hormone-sensitive lipase (HSL, gene LIPE, hypertriglyceridemia, and insulin resistance). Two inborn errors of glycerol metabolism are known: glycerol kinase (GK, causing pseudohypertriglyceridemia) and glycerol-3-phosphate dehydrogenase (GPD1, childhood hepatic steatosis). Mouse models often resemble human phenotypes but may diverge markedly. Inborn errors have been described for less than one-third of CTGM enzymes, and new phenotypes may yet be identified.

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“…Hyperkeratosis of the palms and soles and pruritis often occur. Severe cases present as collodion babies, with a desquamating membrane and underlying erythroderma (Israeli et al 2012).…”

Section: Cgi-58 Deficiency (Nlsdi)mentioning

confidence: 99%

“…Treatment is symptomatic. Case reports describe some improvement of ichthyosis and mild reduction in aminotransferase levels following treatment with retinoids (Israeli et al 2012;Srinivasaraghavan et al 2014). Dietary fat restriction has not been tested extensively (Srinivasaraghavan et al 2014).…”

Section: Diagnosis and Differential Diagnosismentioning

confidence: 99%

Inborn errors of cytoplasmic triglyceride metabolism

Yang

Wang

et al. 2014

J of Inher Metab Disea

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“…Patients with syndromic ichthyosis may be candidates for oral retinoids (LoE 2, GoR D) (Appendix S8; see Supporting Information), even in cases of liver involvement (such as Chanarin–Dorfman syndrome) or eye symptoms (KID syndrome) . However, they should be monitored for side‐effects more closely.…”

Section: Topical and Systemic Therapiesmentioning

confidence: 99%

Management of congenital ichthyoses: European guidelines of care, part one

et al. 2018

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These guidelines for the management of congenital ichthyoses have been developed by a multidisciplinary group of European experts following a systematic review of the current literature, an expert conference held in Toulouse in 2016 and a consensus on the discussions. They summarize evidence and expert-based recommendations and are intended to help clinicians with the management of these rare and often complex diseases. These guidelines comprise two sections. This is part one, covering topical therapies, systemic therapies, psychosocial management, communicating the diagnosis and genetic counselling.

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“…Un article récent sur les traitements topiques de l'ichtyose a insisté sur le fait qu'il n'existait pas de traitement efficace pour tous les patients car il y a une grande variabilité individuelle en fonction de l'âge et des activités [12] en dehors des traitements émollients toujours utiles. Les réti-noïdes oraux semblent efficaces dans cette indication moyennant une surveillance des effets secondaires [13,14].…”

Section: Observationunclassified