|Year : 2019 | Volume
| Issue : 2 | Page : 163-165
Dorfman-Chanarin syndrome: An unusual presentation
Anupa Mary Job1, Vijay Aithal1, Carol Lobo1, AM Shanthala Devi2
1 Department of Dermatology, St. Johns Medical College Hospital, Bengaluru, Karnataka, India
2 Department of Clinical Pathology, St. Johns Medical College Hospital, Bengaluru, Karnataka, India
|Date of Web Publication||29-Mar-2019|
Dr. Carol Lobo
Room 15, Mother Theresa Hostel, St. Johns Medical College Hospital, Kormangala 5th Block, Bengaluru - 560 034, Karnataka
Source of Support: None, Conflict of Interest: None
Dorfman-Chanarin syndrome is a rare autosomal recessive neutral lipid storage disorder with congenital ichthyosis characterized by triglyceride deposition in multiple organs. The usual clinical presentation has been reported to correspond to that of nonbullous congenital ichthyosiform erythroderma. We report a case of a 1-year-old boy who presented with minimally scaly figurate plaques with double-edged scaling in the periphery and clinically mimicking Netherton's Syndrome. The diagnosis was confirmed by the presence of characteristic lipid vacuoles in the leukocytes (Jordan's anomaly).
Keywords: Congenital ichthyosis, Dorfman-Chanarin syndrome, Jordan's anomaly
|How to cite this article:|
Job AM, Aithal V, Lobo C, Shanthala Devi A M. Dorfman-Chanarin syndrome: An unusual presentation. Indian J Paediatr Dermatol 2019;20:163-5
|How to cite this URL:|
Job AM, Aithal V, Lobo C, Shanthala Devi A M. Dorfman-Chanarin syndrome: An unusual presentation. Indian J Paediatr Dermatol [serial online] 2019 [cited 2019 Sep 20];20:163-5. Available from: http://www.ijpd.in/text.asp?2019/20/2/163/255212
| Introduction|| |
Dorfman-Chanarin (DC) syndrome is a rare autosomal recessive neutral lipid storage disorder with congenital ichthyosis characterized by triglyceride deposition in white blood cells and several organs resulting in a myriad of cutaneous, hepatic, musculoskeletal, and ocular abnormalities. Cutaneous presentation resembles that of mild-to-moderate nonbullous ichthyosiform erythroderma. However, clinical heterogeneity of cutaneous lesions has been reported in rarest of these cases such as migrating scaly plaques mimicking erythrokeratoderma variabilis (EKV). We report a case of a 1-year-old boy who presented with ichthyosis linearis circumflexa-like lesions simulating Netherton's syndrome.
| Case Report|| |
A 1-year-old boy, born of a second-degree consanguineous marriage, presented with a history of discrete erythematous, itchy, and scaly lesions on the skin over abdomen since birth. Gradually, the lesions spread to involve the face and extremities, with episodes of cutaneous exacerbations corresponding to summer season, recurrent urinary, and upper respiratory tract infections. The child was being evaluated for atopic dermatitis and recurrent infections elsewhere. A serial ultrasound for evaluation of vesicoureteral reflux showed incidental fatty hepatomegaly which on serial monitoring showed rapid progression. When the child presented to us, he had ichthyotic, minimally scaly plaques in a figurate pattern on the trunk extremities and face (in order of severity), with areas of sparing of the skin over the anterior abdomen and back [Figure 1]. Several of these plaques showed double-edged scaling in the periphery [Figure 2]. A differential diagnosis of Netherton's syndrome and EKV was entertained. Dysmorphic facial features such as epicanthic folds and depression of the bony portion of the nasal septum were also noted [Figure 3]. Eye and hair shaft examination was normal. Significant systemic findings included hepatomegaly and moderately delayed motor and social milestones. Musculoskeletal examination was normal.
|Figure 1: Ichthyotic, minimally scaly plaques in a figurate pattern on the trunk extremities and face|
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On further investigation, aspartate aminotransferase was 95 IU/ml, and alanine aminotransferase was 152 IU/ml. A repeat ultrasound abdomen showed moderate-to-severe hepatomegaly with altered echotexture. Total cholesterol was 200 mg/dl and triglycerides were 359 mg/dl. A skin biopsy showed orthokeratosis, and parakeratosis of the epidermis, ectatic capillaries, and mild perivascular infiltrate in the dermis [Figure 4]. In view of the cutaneous features, systemic abnormal liver function test and lipid profile findings; a probable neutral lipid storage disease disorder was considered. A peripheral smear was done which showed a normocytic normochromic blood picture with characteristic lipid vacuoles in the leukocytes (Jordan's anomaly) [Figure 5]. Thus, a diagnosis of DC syndrome was confirmed, and further investigations were done to evaluate the extent of systemic involvement. Serum creatinine phosphokinase and urinary creatinine were normal. Liver biopsy showed severe macrovesicular steatosis involving more than 85% of the liver parenchyma. Occasional foamy cells were also noted. The portal tracts showed mild fibrosis and a minimal lymphocytic infiltrate [Figure 6]. Audiometric evaluation showed a mild sensory neural hearing loss. Ophthalmologic evaluation was normal. Genetic analysis was not possible in our case due to financial constraints.
|Figure 5: Peripheral Smear showing Jordan's Anomaly: Lipid vacuoles within leucocytes|
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|Figure 6: Histopathology of liver (×40) showing macrovesicular steatosis|
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| Discussion|| |
DC syndrome is a rare autosomal recessive neutral lipid storage disorder characterized by congenital ichthyosis and deposition of lipid droplets in multiple systems such as skin, muscles, liver, central nervous system, gastrointestinal tract (rectal, gastric, and small bowel mucosa), granulocytes, monocytes, mast cells, megakaryocytes, pericytes, muscle cells, Schwann cells, and in the bone marrow cells.,,, This leads to neurological abnormalities, myopathy, growth retardation, sensorineural deafness, and ocular abnormalities. The usual cutaneous manifestation is that of nonbullous congenital ichthyosiform erythroderma. However, there have been occasional reports of varied cutaneous presentations such as EKV-like lesions in literature. The diagnostic feature of DC syndrome is lipid vacuoles within leukocytes, which was seen in our patient.
The characteristic Netherton syndrome like cutaneous lesions in our patient were a significant finding. These observations demonstrate the clinical heterogeneity of the ichthyosiform dermatoses observed in DC syndrome. DC syndrome is caused by mutation in ABHD5 gene on chromosome 3p21. Such a mutation causes accumulation of triglycerols in cytosolic droplets in several organs. Typically, the serum triglyceride levels in patients with DC syndrome are normal or show moderate elevation. However, our patient had significantly elevated serum triglycerides, a finding rarely reported in literature.
No specific pharmacological therapy is available for the treatment of DC syndrome currently. A low-fat diet supplemented with medium-chain triglycerides (MCT) has been recommended by few authors., Mitra et al. and Missaglia et al. noted a significant improvement in hepatomegaly in the cases of DC syndrome reported by them., Emollients are the treatment of choice for ichthyosis in DC syndrome. However, anecdotal reports favoring systemic drugs, such as acitretin, are available in literature. Our patient responded very well to topical steroids and emollients. He was also initiated on MCT diet. The patient is due for further follow-up. Parental gene analysis would further help in predicting outcome in future offsprings; however, our patient's parents refused to get any further tests done, in view of financial constraints.
I hereby declare that the patient's guardian has given me written permission to use the images and medical data in the manuscript.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that name and initial will not be published and due efforts will be made to conceal patient identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]