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Triglyceride storage disease with ichthyosis(CDS)

MedGen UID:
82780
Concept ID:
C0268238
Disease or Syndrome
Synonyms: CDS; Chanarin-Dorfman Syndrome; Disorder of cornification 12 (neutral lipid storage type); Dorfman-Chanarin disease; Ichthyosiform erythroderma with leukocyte vacuolation; Neutral lipid storage disease with ichthyotic; Triglyceride storage disease with impaired long-chain fatty acid oxidation
SNOMED CT: Triglyceride storage disease with ichthyosis (19604005); Chanarin-Dorfman disease (19604005); Chanarin-Miranda syndrome (19604005); Ichthyosiform erythroderma with leukocyte vacuolation (19604005); Ichthyotic neutral lipid storage disease (19604005); Neutral lipid storage disease (19604005); Lipid storage myopathy AND congenital ichthyosis (19604005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): ABHD5 (3p21.33)
 
Monarch Initiative: MONDO:0010155
OMIM®: 275630
Orphanet: ORPHA98907

Definition

Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive nonlysosomal inborn error of neutral lipid metabolism. Patients present with an nonbullous erythrodermic form of ichthyosis, with variable involvement of other organs, such as liver, central nervous system, eyes, and ears. Intracellular triacylglycerol droplets are present in most tissues, and diagnosis can be confirmed by a simple blood smear, in which the characteristic lipid droplets are observed in the cytoplasm of granulocytes (summary by Lefevre et al., 2001). [from OMIM]

Additional description

From MedlinePlus Genetics
Chanarin-Dorfman syndrome is a condition in which fats (lipids) are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides, and these fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. People with this condition also have dry, scaly skin (ichthyosis), which is usually present at birth. Additional features of this condition include an enlarged liver (hepatomegaly), clouding of the lens of the eyes (cataracts), difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness (myopathy), involuntary movement of the eyes (nystagmus), and mild intellectual disability.

The signs and symptoms vary greatly among individuals with Chanarin-Dorfman syndrome. Some people may have ichthyosis only, while others may have problems affecting many areas of the body.  https://medlineplus.gov/genetics/condition/chanarin-dorfman-syndrome

Clinical features

From HPO
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Hepatic steatosis
MedGen UID:
398225
Concept ID:
C2711227
Disease or Syndrome
Steatosis is a term used to denote lipid accumulation within hepatocytes.
Sensorineural hearing impairment
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Microtia
MedGen UID:
57535
Concept ID:
C0152423
Congenital Abnormality
Underdevelopment of the external ear.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Abnormality of blood and blood-forming tissues
MedGen UID:
163092
Concept ID:
C0850715
Finding
An abnormality of the hematopoietic system.
Myopathy
MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
Ectropion
MedGen UID:
4448
Concept ID:
C0013592
Disease or Syndrome
An outward turning (eversion) or rotation of the eyelid margin.
Everted lower lip vermilion
MedGen UID:
344003
Concept ID:
C1853246
Finding
An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Congenital nonbullous ichthyosiform erythroderma
MedGen UID:
38180
Concept ID:
C0079154
Disease or Syndrome
The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Subcapsular cataract
MedGen UID:
65903
Concept ID:
C0235259
Finding
A cataract that affects the region of the lens directly beneath the capsule of the lens.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTriglyceride storage disease with ichthyosis
Follow this link to review classifications for Triglyceride storage disease with ichthyosis in Orphanet.

Professional guidelines

PubMed

Mai A, Voigt K, Schübel J, Gräßer F
BMC Med Inform Decis Mak 2023 May 9;23(1):89. doi: 10.1186/s12911-023-02170-y. PMID: 37161441Free PMC Article

Recent clinical studies

Etiology

Uitto J, Youssefian L, Saeidian AH, Vahidnezhad H
Acta Derm Venereol 2020 Mar 25;100(7):adv00095. doi: 10.2340/00015555-3431. PMID: 32147742Free PMC Article
Garibaldi M, Tasca G, Diaz-Manera J, Ottaviani P, Laschena F, Pantoli D, Gerevini S, Fiorillo C, Maggi L, Tasca E, D'Amico A, Musumeci O, Toscano A, Bruno C, Massa R, Angelini C, Bertini E, Antonini G, Pennisi EM
J Neurol 2017 Jul;264(7):1334-1342. Epub 2017 May 13 doi: 10.1007/s00415-017-8498-8. PMID: 28503705Free PMC Article
Lamari F, Mochel F, Sedel F, Saudubray JM
J Inherit Metab Dis 2013 May;36(3):411-25. Epub 2012 Jul 20 doi: 10.1007/s10545-012-9509-7. PMID: 22814679
Liang WC, Nishino I
Acta Myol 2010 Oct;29(2):351-6. PMID: 21314018Free PMC Article
Fischer J, Lefèvre C, Morava E, Mussini JM, Laforêt P, Negre-Salvayre A, Lathrop M, Salvayre R
Nat Genet 2007 Jan;39(1):28-30. Epub 2006 Dec 24 doi: 10.1038/ng1951. PMID: 17187067

Diagnosis

Cakmak E, Bagci G
Liver Int 2021 May;41(5):905-914. Epub 2021 Mar 18 doi: 10.1111/liv.14794. PMID: 33455044
Kalyon S, Gökden Y, Demirel N, Erden B, Türkyılmaz A
Turk J Gastroenterol 2019 Jan;30(1):105-108. doi: 10.5152/tjg.2018.18014. PMID: 30457558Free PMC Article
Waheed N, Cheema HA, Suleman H, Mushtaq I, Fayyaz Z
J Coll Physicians Surg Pak 2016 Sep;26(9):787-9. PMID: 27671187
Yoneda K
J Dermatol 2016 Mar;43(3):252-63. doi: 10.1111/1346-8138.13284. PMID: 26945533
Liang WC, Nishino I
Curr Neurol Neurosci Rep 2011 Feb;11(1):97-103. doi: 10.1007/s11910-010-0154-y. PMID: 21046290

Therapy

Mai A, Voigt K, Schübel J, Gräßer F
BMC Med Inform Decis Mak 2023 May 9;23(1):89. doi: 10.1186/s12911-023-02170-y. PMID: 37161441Free PMC Article
Kim SH, Jung HH, Lee CK
Yonsei Med J 2018 Sep;59(7):807-815. doi: 10.3349/ymj.2018.59.7.807. PMID: 30091313Free PMC Article
Waheed N, Cheema HA, Suleman H, Mushtaq I, Fayyaz Z
J Coll Physicians Surg Pak 2016 Sep;26(9):787-9. PMID: 27671187
Cantley JL, Yoshimura T, Camporez JP, Zhang D, Jornayvaz FR, Kumashiro N, Guebre-Egziabher F, Jurczak MJ, Kahn M, Guigni BA, Serr J, Hankin J, Murphy RC, Cline GW, Bhanot S, Manchem VP, Brown JM, Samuel VT, Shulman GI
Proc Natl Acad Sci U S A 2013 Jan 29;110(5):1869-74. Epub 2013 Jan 9 doi: 10.1073/pnas.1219456110. PMID: 23302688Free PMC Article
Scarlato G, Comi GP
Curr Opin Neurol 2002 Oct;15(5):533-8. doi: 10.1097/00019052-200210000-00003. PMID: 12351996

Prognosis

Durdu M, Missaglia S, Moro L, Tavian D
BMC Med Genet 2018 May 29;19(1):88. doi: 10.1186/s12881-018-0610-0. PMID: 29843625Free PMC Article
Pennisi EM, Arca M, Bertini E, Bruno C, Cassandrini D, D'amico A, Garibaldi M, Gragnani F, Maggi L, Massa R, Missaglia S, Morandi L, Musumeci O, Pegoraro E, Rastelli E, Santorelli FM, Tasca E, Tavian D, Toscano A, Angelini C; Italian NLSD Group
Orphanet J Rare Dis 2017 May 12;12(1):90. doi: 10.1186/s13023-017-0646-9. PMID: 28499397Free PMC Article
Perrin L, Féasson L, Furby A, Laforêt P, Petit FM, Gautheron V, Chabrier S
Neuromuscul Disord 2013 Dec;23(12):986-91. Epub 2013 Aug 30 doi: 10.1016/j.nmd.2013.08.008. PMID: 24074500
Akman HO, Davidzon G, Tanji K, Macdermott EJ, Larsen L, Davidson MM, Haller RG, Szczepaniak LS, Lehman TJ, Hirano M, DiMauro S
Neuromuscul Disord 2010 Jun;20(6):397-402. Epub 2010 May 14 doi: 10.1016/j.nmd.2010.04.004. PMID: 20471263Free PMC Article
Fischer J, Lefèvre C, Morava E, Mussini JM, Laforêt P, Negre-Salvayre A, Lathrop M, Salvayre R
Nat Genet 2007 Jan;39(1):28-30. Epub 2006 Dec 24 doi: 10.1038/ng1951. PMID: 17187067

Clinical prediction guides

Fu X, Yang X, Wang X, Jia B, Ma W, Xiong H, Fang F, Ren X, Lv J
Neuromuscul Disord 2023 Sep;33(9):81-89. Epub 2023 Jul 30 doi: 10.1016/j.nmd.2023.07.007. PMID: 37620213
Hong D, Zheng J, Xin L, Xiang Y, Luan X, Cao L, Cong L, Fang P, Zhang J
Clin Neuropathol 2019 Jul/Aug;38(4):157-167. doi: 10.5414/NP301159. PMID: 30738494
Tan J, Yang H, Fan J, Fan Y, Xiao F
Clin Neurol Neurosurg 2018 May;168:102-107. Epub 2018 Mar 5 doi: 10.1016/j.clineuro.2018.03.001. PMID: 29539587
Garibaldi M, Tasca G, Diaz-Manera J, Ottaviani P, Laschena F, Pantoli D, Gerevini S, Fiorillo C, Maggi L, Tasca E, D'Amico A, Musumeci O, Toscano A, Bruno C, Massa R, Angelini C, Bertini E, Antonini G, Pennisi EM
J Neurol 2017 Jul;264(7):1334-1342. Epub 2017 May 13 doi: 10.1007/s00415-017-8498-8. PMID: 28503705Free PMC Article
Pennisi EM, Arca M, Bertini E, Bruno C, Cassandrini D, D'amico A, Garibaldi M, Gragnani F, Maggi L, Massa R, Missaglia S, Morandi L, Musumeci O, Pegoraro E, Rastelli E, Santorelli FM, Tasca E, Tavian D, Toscano A, Angelini C; Italian NLSD Group
Orphanet J Rare Dis 2017 May 12;12(1):90. doi: 10.1186/s13023-017-0646-9. PMID: 28499397Free PMC Article

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