Abstract:

Chanarin-Dorfman syndrome (CDS) is a rare nonlysosomal autosomal recessive neutrophil lipid storage disorder characterized by deposition of cytoplasmic neutral lipid droplets in many cell types. It is clinically characterized by nonbullous congenital ichthyosiform erythroderma, hepatomegaly, myopathy, ataxia, neurosensory hearing loss and varying developmental delay. A peripheral blood smear showing lipid droplets in granulocytes is highly suggestive of the diagnosis.

Case Report:

A 14 month old, developmentally normal for age male child, born out of second degree consanguineous marriage presented to us with complaints of upper abdominal distension for three weeks, dry skin with peeling since neonatal period and strabismus. On examination the child had generalized ichthyosis and hepatomegaly. There was no ataxia, nystagmus, or deafness or clinical signs of peripheral neuropathy or myopathy. Similar skin lesions were present in his cousin. We considered the differentials of non-bullous congenital icthyosiform erythroderma, lamellar ichthyosis and Chanarin-Dorfman syndrome.

On investigation peripheral blood smear revealed presence of vacuolated neutrophils (Jordan’s anomaly). Liver enzymes were mildly elevated (alanine transaminase 93 IU/L and aspartate transaminase 112 IU/L) with normal bilirubin levels. Lipid profile was normal. Liver biopsy showed macrovesicular steatosis with features of cirrhosis and steatohepatitis. Skin biopsy was consistent with nonbullous icthyosiform erythroderma with presence of vacuolated keratinocytes and vacuolated cells in eccrine gland. The skeletal and ophthalmological evaluation was normal.

With these typical features a diagnosis of CDS was considered. Isotretinoin 10 mg twice a week and emollients were prescribed along with a diet rich in medium chain triglycerides and deficient in long chain fatty acids. Follow up of the patient at 4 and 8 weeks showed progressively significant improvement in cutaneous lesions and normalization of liver function tests. Thus, a simple peripheral blood smear should be done to rule out CDS in any child presenting with ichthyosis and systemic involvement.

Discussion:

Chanarin-Dorfman syndrome is a rare autosomal recessive metabolic disorder with deposition of cytoplasmic neutral lipid droplets in many cell types, in particular hepatocytes, keratinocytes and granulocytes.  CDS is characterized by nonbullous congenital ichthyosiform erythroderma, hepatomegaly and varying degree of developmental delay. Muscle weakness (or myopathy), ataxia, neurosensory hearing loss, subcapsular cataracts and nystagmus can be present.¹ Expression of the syndrome is variable, but the diagnosis can be easily confirmed by a peripheral blood smear, which shows lipid droplets in granulocytes, known as Jordan’s anomaly. ² Mutations in the ABHD5 gene on chromosome 3p21 is the genetic defect responsible for CDS.³ Mutation of ABHD5 leads to deposition of triglycerides as lipid droplets in various organs due to loss of function of adipose triglyceride lipase enzyme.^4,5 Our patient presented classically with congenital nonbullous icthyosiform erythroderma, hepatomegaly, strabismus and peripheral blood smear showed Jordan’s anomaly. Histopathological examination revealed deposition of lipid vacuoles in hepatocytes, keratinocytes, and eccrine glands.

References:

1. Srebrnik A, Brenner S, Ilie B et al. Dorfman–Chanarin syndrome: morphologic studies and presentation of new cases. Am J Dermato-pathol 1998; 20:79–85.
2. Rozenszajn L, Klajman A, Yaffe D et al. Jordan’s anomaly in white blood cells. Report Case Blood 1966; 28:258 – 265
3. Emre S, Unver N, Evans SE et al. Molecular analysis of Chanarin–Dorfman syndrome (CDS) patients: identification of novel mutations in the ABHD5 gene. Eur J Med Genet 2010;53:141–4
4. Dorfman ML, Hershko C, Eisenberg S et al. Ichthyosiform dermatosis with systemic lipidosis. Arch Dermatol 1974;110:261– 266.
5. Lass A, Zimmermann R, Haemmerle G et al. Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin–Dorfman Syndrome. Cell Metab 2006;3:309–19.

Hyaluronic acid – the name reflects its glassy appearance (the greek word for glass is hyalos) and the presence of sugar known as uronic acid.

Introduction

H.A. also called hyaluronan is anionic, nonsulfated glycosaminoglycan distributed widely throughout connecting, epithilian and neural
tissues. The average 70kg person has roughly 15gms of H.A. in the body, one-third of which is turned over (degraded and synthesized) every day. H.A. is an important component of articular cartilage, as a coat around each cell (chondrocyte). H. A. with other molecules form an aggregate which imbibes water and is responsible for the resilience of Cartilage. A lubricating role of H.A. in muscular connective tissues to enhance the sliding between adjacent tissue layers has been suggested. H.A. has many benefits and is one of the most interesting ingredients In skin care specifically. Naturally found in the body, H.A. appears freely in the dermis. H. A. is found at the periphery of the collagen and elastin fibers and at the interface of this type of fibers. H.A. appears to also play a role in keratinocyte differentiation and formation of lameller bodies via its interaction with cd44, a cell surface glycoprotein receptor with h.a. binding sites. H.A. secures moisture and creates fullness-youthful skin naturally abounds with H.A. In skin care, you can find H.A. creams, serums, injectables and H.A. supplements

Benefits of H.A. In Skin

As we age, skin moisture can drop significantly, which makes the skin
lose elasticity and expose the signs of aging on the skin. H.A. plays a critical role in skin health with its unique ability to hold moisture (1000 Ml of water per gram of H.A.) and hence it is excellent at plumping up and hydrating skin cells. Collagen the most abundant protein in the body is critical to the skin because it supports skin structure as a body.
Collagen declines the appearances of wrinkles and discoloration becomes more visible. maximizing collagen levels will keep skin supple. Primary cause of degeneration of the collagen network of skin is decreased levels of hydrated hyaluronic acid which supports the collagen network. Restoring H.A. plumps the skin cells and restores the moisture in all the tissues of the body. Thus H.A. contributes to the anti ageing benefits to the skin.

one of the most skin damaging elements are the UVB rays from the sun. h.a. benefits the skin as it protects the skin from UVB rays. (And Scavenging reactive oxygen species they generate), which can cause sun spots. H.A. Is also a “smart nutrient” as it can adjust its moisture absorption rate based on humidity-relative to the season and climate. Researchers have found H.A. supplementation to be directly correlated to measured increases in skin moisture. Microscopic skin surface analysis show increased skin smoothness, and amelioration of wrinkles, a lack of H.A. in body joints can set in process of the progressive wear and tear leading to cartilage destruction, joint pain reduced a flexibility and osteo arthritis. H.A. can help with healing because it provides cushioning between the joints that then enables cartilage to restabilize. Levels of H.A. have been found to be lower than normal in people suffering from dry eyes syndrome and there is justification in the use of this supplements for this concern as well as helping to alleviate vaginal dryness.

How to retain H.A. in the Body

U.V. radiation from the sun can cause skin cells to reduce their production of H.A. One can use specific foods and supplements to Increase the amount of H.A. in the body.
The foods high in H.A. are potatoes and other root vegetables such as carrots, and sweet potatoes, green leafy vegetables such as kale and spinach. Asian vegetables such as imoji, koanyaku and satoimo also have high concentration of H.A.
H.A. is sensitive to heat and will be destroyed by cooking so it is better to eat the vegetables raw. H.A. is more effective when it has an abundant amount of water with which to bind hence it is recommended to drink plenty of water.
Oral supplements of H.A. can be taken. The F.D.A. has not established a minimum daily requirement for H.A. but a common recommended dosage is 200mg twice a day. Topical preparations can be used of H.A. to make the skin smoother And suppler.

H.A. Derma Fillers

H.A. fillers acts like an inflated cushion to support facial structures and tissues that may have lost its volume or elasticity due to normal ageing. It also brings water to the surface of the skin to keep it looking soft and supple. In the last few decades, various synthetic forms of H.A. have been developed and used to correct disorders in the fields of rhuematology, ophthalmology and wound repair. More recently, synthetic forms of H.A. are being manufactured for use in face augmentation. Hence h.a. is aptly called the’ fountain of youth.’