Rickets with Dorfman-Chanarin Syndrome

Taşkın, Erdal; Akarsu, Saadet; Aygün, A. Denizmen; Özlü, Ferda; Kılıç, Mehmet

doi:10.1159/000096784

Cited by 9 publications

(4 citation statements)

References 36 publications

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“…Other clinical findings aside from ichthyosis include hepatomegaly, bilateral ectropion, cataract, muscle weakness, bilateral sensorineural deafness, splenomegaly, short stature, small ears, strabismus and mental retardation 64–74 . In addition, clinical findings, such as microcephaly, cardiomyopathy, nystagmus, eclabion, rickets, renal eccrine gland and pancreatic involvement, are also observed in rare cases 75–80 . The most common clinical findings in patients were ichtyosis 100% and hepatomegaly 60%, and the others were bilateral ectropion, cataract, neurosensory deafness and splenomegaly (29%, 22%, 17% and 13% respectively).…”

Section: Discussionmentioning

confidence: 99%

“…[64][65][66][67][68][69][70][71][72][73][74] In addition, clinical findings, such as microcephaly, cardiomyopathy, nystagmus, eclabion, rickets, renal eccrine gland and pancreatic involvement, are also observed in rare cases. [75][76][77][78][79][80] The most common clinical findings in patients were ichtyosis 100% and hepatomegaly 60%, and the others were bilateral ectropion, cataract, neurosensory deafness and splenomegaly (29%, 22%, 17% and 13% respectively).…”

Section: Liver Disease Liver Phenotype Genotype/mutationmentioning

confidence: 99%

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Chanarin‐Dorfman Syndrome: A comprehensive review

Çakmak

Bağci

2021

Liver International

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Chanarin-Dorfman syndrome (CDS) is an extremely rare, multisystemic, autosomal recessive, neutral lipid storage disease (NLSD). It was first observed by Jordan in 1953, who identified lipid vacuoles in the cytoplasm of leukocytes from the peripheral blood smear of 2 brothers who suffered from progressive muscular dystrophy. 1 Two decades later, Dorfman in 1974 and Chanarin in 1975 reported for the first time a neutral lipid storage disease characterized by lipid accumulation in the peripheral blood leukocytes, bone marrow granulocyte precursors, liver cells and many other cells in the body. 2,3 To date, approximately 120 cases of CDS have been reported around the world. The syndrome is caused by the mutation of the abhydrolase domain containing 5 (ABHD5) gene, also called the comparative gene identification-58 (CGI-58) gene, located on the 3p21 chromosome. The product of this gene is a member of the large α/β-hydrolase family of proteins with 349 amino acids and a molecular mass of approximately 39 kD that enables the activation of adipose triglyceride lipase (ATGL) which plays and important role in intracellular lipolysis. Mutation of the ABHD5 gene results in the total or partial inactivation of the ATGL enzyme that enables the release of fatty acids (FAs) from the intracellular triacylglycerol (TG) stores of adipose and nonadiposetissues. This leads to insufficient FA mobilization within the cell, which in turn causes the accumulation of intracytoplasmic lipid droplets that contain TG. 4,5 These lipid droplets have been observed in hepatocytes, intestinal mucosa, blood, bone marrow, skin fibroblasts, myocytes, central nervous system cells and many other types of cells. CDS is associated with a multitude of clinical symptoms, the most prominent of which are non-bullous congenital ichthyosiform erythroderma and liver steatosis, whereas others include splenomegaly, myopathy, sensorineural hearing loss, nystagmus, ataxia, cataract, mental retardation and growth retardation. These clinical symptoms tend to vary according to the patients' ethnic origin and the different mutations they have. The diagnosis is based on the presence of ichthyosis and identification of lipid droplets in granulocytes (Jordan's anomaly) in peripheral blood smear. 6,7

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Section: Discussionmentioning

confidence: 99%

Section: Liver Disease Liver Phenotype Genotype/mutationmentioning

confidence: 99%

Chanarin‐Dorfman Syndrome: A comprehensive review

Çakmak

Bağci

2021

Liver International

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“…26 Reported cases of rickets in patients with ichthyosis are summarized in Table 3. [27][28][29][30][31][32][33][34][35][36][37][38][39][40][41][42][43][44][45][46] Rickets in patients with ichthyosis is explained by the following:…”

Section: Alopecia As a Sign Of Hypocalcemia Vitamin D-dependent Ricmentioning

confidence: 99%

Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention

Litaiem

Chabchoub

Bacha

et al. 2020

Photoderm Photoimm Photomed

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Background Rickets is a common disease worldwide. In the developed world, its prevalence dramatically decreased but still diagnosed in at‐risk populations. The skin plays a critical role in vitamin D synthesis. Therefore, several skin diseases, especially keratinization disorders, could lead to impaired vitamin D metabolism and vitamin D deficient rickets. Objective The article aimed to summarize the current knowledge of skin diseases and conditions associated with rickets. Methods To examine the association between rickets and skin diseases, we performed a systematic review of the literature using PubMed database. The search included studies published from the database inception to August 2019. Results A total number of 75 articles were included. Identified conditions associated with rickets were ichthyosis being a more common skin diseases, alopecia, epidermal and melanocytic nevi, xeroderma pigmentosum, mastocytosis, psoriasis, and atopic dermatitis. Three types of rickets were identified: vitamin D‐dependent rickets, hypocalcemic vitamin D‐dependent rickets type 2, and hypophosphatemic rickets. Cutaneous skeletal hypophosphatemia syndrome is a newly described and under‐recognized condition. It is defined by the association of epidermal or melanocytic nevi, hypophosphatemic rickets, and elevated levels of fibroblast growth factor 23. Rickets in patients with ichthyosis was mainly due to impaired ability of ichthyotic skin to synthesize vitamin D, poor UV penetration of the skin caused by keratinocyte proliferation, and dark phototype. The latter may be considered a risk factor for rickets in patients with ichthyosis. Conclusion Despite its rarity, these associations should be properly recognized by dermatologists. Early diagnosis of rickets is important to prevent growth retardation and skeletal deformities.

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“…Cela nous aurait en effet permis d'entreprendre et de contrôler au cours du suivi une supplémentation adaptée en vitamine D par des dosages réguliers chez cet enfant. On peut également s'intéresser aux traitements de l'ichtyose dont l'association au rachitisme dans cette maladie a déjà été rapportée dans un cas [11]. 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.…”

Section: Observationunclassified