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 Table of Contents  
Year : 2018  |  Volume : 5  |  Issue : 2  |  Page : 75-77

A case report of dyskeratosis congenita associated with both psychosis and mood disorder

Department of Psychiatry, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India

Date of Submission26-Jan-2018
Date of Acceptance10-Sep-2018
Date of Web Publication31-Dec-2018

Correspondence Address:
Gopinath Sathyanarayanan
Department of Psychiatry, Jawaharlal Institute of Postgraduate Medical Education and Research, Dhanvantri Nagar, Puducherry - 605 006
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/IJAMR.IJAMR_5_18

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Dyskeratosis congenita (DC) is a rare heritable skin disorder with progressive bone marrow failure. Psychiatric manifestations could also be a presentation of this rare skin condition. Although it has been associated with psychiatric manifestations, there is a dearth of information regarding mood symptoms in this condition. We report a 41-year-old male who had presented with predominant psychotic followed by affective symptoms and was diagnosed with DC and comorbid organic delusional and mood disorder. He was also worked up for other physical manifestations of DC.

Keywords: Dyskeratosis congenita, organic delusional disorder, organic mood disorder, psychodermatology, telomere shortening

How to cite this article:
Chandrasekaran V, Sathyanarayanan G, Menon V, Bharadwaj B. A case report of dyskeratosis congenita associated with both psychosis and mood disorder. Int J Adv Med Health Res 2018;5:75-7

How to cite this URL:
Chandrasekaran V, Sathyanarayanan G, Menon V, Bharadwaj B. A case report of dyskeratosis congenita associated with both psychosis and mood disorder. Int J Adv Med Health Res [serial online] 2018 [cited 2023 Mar 29];5:75-7. Available from: https://www.ijamhrjournal.org/text.asp?2018/5/2/75/249070

  Introduction Top

Dyskeratosis Congenita (DC), also known as Zinsser-Engman-Cole syndrome, is an inherited skin condition with the classic triad of dysplastic nails, lacy reticular skin pigmentation, and oral leukoplakia as skin changes.[1] Individuals with DC have a high risk of progressive bone marrow failure, pulmonary fibrosis, liver disease, cancer, stenosis of the esophagus, urethra, lacrimal ducts, and avascular necrosis of the hips or shoulders.[2] This syndrome is closely related to defects in telomere biology which is also considered a possible precedent for various psychiatric disorders.[3] A recent pilot study has reported higher cooccurrence of neuropsychiatric disorders in pediatric and adult population afflicted by this syndrome.[1] Although there are a couple of reports of DC with comorbid schizophrenia,[4] no reports describing mood disorder in DC exist. With this background, we are reporting a case of an adult male with DC and comorbid psychotic and mood disorder.

  Case Report Top

A 41-year-old male presented to the outpatient services with a 4-month history of psychiatric symptoms. The initial few weeks of presentation were characterized by overvalued ideas of persecution and reference, which acquired a delusional character in the subsequent months. In addition, about a month before admission, there was elevated mood, increased speech, decreased need for sleep, and abusive and assaultive behavior. Previously, he was receiving treatment and had developed QTc prolongation on electrocardiogram while on a combination of tablet haloperidol 7.5 mg, tablet chlorpromazine 400 mg, tablet aripiprazole 10 mg, and tablet valproate 750 mg. Hence, he was referred to our center for further management.

There was a history of unnatural death due to brain tumor in elder brother who had skin pigmentation anomalies. There was no significant personal history including substance use. Following admission, on general physical examination, he was having dry skin with lacy reticular pigmentation and oral leukoplakia as demonstrated in [Figure 1]a and [Figure 1]b, respectively. He was also having dystrophic nails and conjunctival congestion. His body mass index was high (27.04 kg/m2). Cognitive abilities of the index case were preserved. Baseline blood biochemistry and hematological workup were unremarkable [Table 1].
Figure 1: (a) Lacy reticular pigmentation. (b) Oral leukoplakia

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Table 1: Blood investigations

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He had a QTc interval of 473 ms.

We made a diagnosis of unspecified psychosis and mood disorder (mania) as psychotic symptoms occurred before the onset of mood symptoms and both the symptoms had an independent course but resolved together. This diagnosis was arrived based on the consensus of three qualified psychiatrists. However, the possibility of organicity was also considered in view of atypical features such as late age of onset, psychopathology, and response to treatment.

He was initiated on tablet valproate and tablet clonazepam which was gradually up-titrated to 1600 mg and 2 mg, respectively. Following cardiology liaison for QTc prolongation, tablet risperidone was initiated at 2 mg and up-titrated to 8 mg slowly over a period of 4 weeks. Alongside, lorazepam 8 mg/day was added to control manic excitement. Dermatology opinion was sought for skin pigmentation and nail changes. The index case was diagnosed with DC syndrome based on the observation of the classical triad.[1] Psychiatric diagnosis was revised to organic delusional and affective disorder because of the possibilities of psychiatric manifestation in DC syndrome. On evaluation for other manifestations of the syndrome, he was found to have early changes of interstitial lung disease on high-resolution computed tomography of thorax [Figure 2]. Noncontrast computed tomography of the brain revealed a normal study. The index case improved significantly over a period of 6 weeks with treatment and has been on regular follow-up since then for the past 4 months.
Figure 2: High-resolution computed tomography of thorax showing early interstitial changes

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  Discussion Top

The present case had an atypical course characterized predominantly by psychotic symptoms in the initial part followed by affective symptoms with skin and nail changes suggestive of DC, a rare heritable skin condition with neuropsychiatric symptoms. In neuropsychiatric disorders, the psychiatric syndrome usually presents either as the primary manifestation or occurs concomitantly with the underlying disease as it progresses. Hence, there might be a delay in the diagnosis of the underlying neuropsychiatric condition if it primarily presents with psychiatric syndrome. The only study to date that aimed to evaluate the frequency and typology of neuropsychiatric manifestations in DC found that 50% of pediatric and 75% of adult sufferers present with primary psychiatric manifestations such as delusions and hallucinations as in schizophrenia.[1] In this report, the individual primarily presented with psychiatric manifestation at a relatively later age of onset. Hence, the challenge remains in identifying the underlying organic condition, which plays a vital role in the management. Telomeres are heterochromatic structures present at the chromosomal ends whose length shortens progressively with each cell replication leading to senescence and cell death, after reaching a critical length. Such critically short telomeres have been implicated in various diseases such as Werner syndrome, Bloom syndrome, Ataxia-Telangiectasia, and others.[3]

DC is also considered primarily a disorder of telomere maintenance and shortening, but the debate remains whether such telomere shortening is causal or representative of the underlying disease process. Short telomere length is also associated with major psychiatric illnesses such as bipolar disorder (BD), schizophrenia, and depression.[5] This raises important questions on shared neurobiological mechanisms that may explain the high rates of comorbidity between DC and psychiatric conditions. BD has been conceptualized for decades as a cyclic disease, but there have been upcoming evidence for neuroprogression in BD. The pathways implicated in neuroprogression involve inflammatory cytokines, neurotrophins, mitochondrial dysfunction, oxidative stress, and epigenetic effects.[6],[7] A study comparing mood disorder individuals with healthy controls showed significantly reduced telomere length, a marker of accelerated aging and neuroprogression.[8] Another study has demonstrated a protective effect of lithium against telomere shortening in BD as long-term treatment with lithium has been associated with longer telomere length.[9] Surprisingly, a meta-analysis of telomere length studies in BD has failed to demonstrate a similar association. However, the findings from the meta-analysis must be read with caution due to high heterogeneity in the studies included.[10] Hence, more rigorous studies are required to determine the association between telomere length and BD. In addition, telomere shortening has been implicated in schizophrenia.[11] This shared pathology aids in the understanding of the expression of both psychotic and affective symptoms in DC.

We acknowledge that lack of objective tests to confirm our finding as a major limitation, and it is hard to conclude a link between the disorders in a single case report. Hence, we conclude that major psychiatric disorders with atypical presentation should raise a possibility of an organic etiology as it could aid in timely intervention and minimizing morbidities.

Further long-term studies with larger sample size are required in such specific populations to understand the course and the varied clinical presentations. Furthermore, there is a need to study the association between major psychiatric disorders and telomere length in drug naive patients and the changes with treatment.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for his images and other clinical information to be reported in the journal. The patient understands that name and initials will not be published, and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Rackley S, Pao M, Seratti GF, Giri N, Rasimas JJ, Alter BP, et al. Neuropsychiatric conditions among patients with dyskeratosis congenita: A link with telomere biology? Psychosomatics 2012;53:230-5.  Back to cited text no. 1
Ballew BJ, Savage SA. Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Rev Hematol 2013;6:327-37.  Back to cited text no. 2
Kong CM, Lee XW, Wang X. Telomere shortening in human diseases. FEBS J 2013;280:3180-93.  Back to cited text no. 3
Mahiques L, Febrer I, Vilata JJ, Fortea JM. A case of dyskeratosis congenita associated with schizophrenia and two malignancies. J Eur Acad Dermatol Venereol 2006;20:1159-61.  Back to cited text no. 4
Lindqvist D, Epel ES, Mellon SH, Penninx BW, Révész D, Verhoeven JE, et al. Psychiatric disorders and leukocyte telomere length: Underlying mechanisms linking mental illness with cellular aging. Neurosci Biobehav Rev 2015;55:333-64.  Back to cited text no. 5
Berk M, Conus P, Kapczinski F, Andreazza AC, Yücel M, Wood SJ, et al. From neuroprogression to neuroprotection: Implications for clinical care. Med J Aust 2010;193:S36-40.  Back to cited text no. 6
Berk M, Kapczinski F, Andreazza AC, Dean OM, Giorlando F, Maes M, et al. Pathways underlying neuroprogression in bipolar disorder: Focus on inflammation, oxidative stress and neurotrophic factors. Neurosci Biobehav Rev 2011;35:804-17.  Back to cited text no. 7
Simon NM, Smoller JW, McNamara KL, Maser RS, Zalta AK, Pollack MH, et al. Telomere shortening and mood disorders: Preliminary support for a chronic stress model of accelerated aging. Biol Psychiatry 2006;60:432-5.  Back to cited text no. 8
Martinsson L, Wei Y, Xu D, Melas PA, Mathé AA, Schalling M, et al. Long-term lithium treatment in bipolar disorder is associated with longer leukocyte telomeres. Transl Psychiatry 2013;3:e261.  Back to cited text no. 9
Colpo GD, Leffa DD, Köhler CA, Kapczinski F, Quevedo J, Carvalho AF, et al. Is bipolar disorder associated with accelerating aging? A meta-analysis of telomere length studies. J Affect Disord 2015;186:241-8.  Back to cited text no. 10
Kao HT, Cawthon RM, Delisi LE, Bertisch HC, Ji F, Gordon D, et al. Rapid telomere erosion in schizophrenia. Mol Psychiatry 2008;13:118-9.  Back to cited text no. 11


  [Figure 1], [Figure 2]

  [Table 1]


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