Indian Journal of Dermatology
: 2021  |  Volume : 66  |  Issue : 2  |  Page : 224-

Dyskeratosis congenita with portal hypertension and oesophageal webs: A case report

Sandeep Khuraiya, Ramesh Raidas, Vinod Jain, Dilip Kachhwaha 
 Department of Dermatology, Venerelogy and Leprosy, Dr. S.N. Medical College, Jodhpur, Rajasthan, India

Correspondence Address:
Sandeep Khuraiya
Department of Dermatology, Venerelogy and Leprosy, Dr. S.N. Medical College, Jodhpur, Rajasthan

How to cite this article:
Khuraiya S, Raidas R, Jain V, Kachhwaha D. Dyskeratosis congenita with portal hypertension and oesophageal webs: A case report.Indian J Dermatol 2021;66:224-224

How to cite this URL:
Khuraiya S, Raidas R, Jain V, Kachhwaha D. Dyskeratosis congenita with portal hypertension and oesophageal webs: A case report. Indian J Dermatol [serial online] 2021 [cited 2021 Nov 27 ];66:224-224
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A 25-year-old man presented with the complaint of reticulate pigmentation of chest, neck, back, lower limbs, upper limbs, nail deformities in the form of dystrophy in some and complete loss in others since 10 years. He also complained of generalized weakness and easy fatigability since 1 year. The patient was nonaddict and was not any medication. There was no family history of similar complaints or history of early deaths in the family.

On examination, the patient was thin built, pale, and had brown hair with poor texture. On per abdomen examination spleen was palpable; there was no hepatomegaly or evidence of free fluid in abdomen.

Cutaneous examination showed reticulate skin pigmentation affecting the chest, back, abdomen, both lower limbs, and upper limbs. Few hypopigmented round to oval patches varying in size from 0.5–2 cm were present on the trunk [Figure 1]. Oral cavity showed presence of leukoplakic patch on the dorsum of tongue, approximately 3 cm in size [Figure 2]. Nail changes were in the form of dystrophy with complete shedding of some of the finger and toe nails [Figure 3]. Palms and soles were thickened with waxy appearance [Figure 4]. Skin over the dorsum of hand especially over distal interphalangeal joints and proximal nail fold was atrophic. On laboratory investigation. there was pancytopenia with Hb-7 g/dL, platelet counts 25,000/mm3 and total leucocyte count of 3300/mm3. Peripheral smear examination revealed microcytic hypochromic RBCs showing anisopoikilocytosis with some macrocytes, target cells and occasional teardrop cells. No immature and abnormal leucocytes were seen. Serum LDH and reticulocyte count were normal.{Figure 1}{Figure 2}{Figure 3}{Figure 4}

Bone marrow aspiration showed normoblastic erythroid hyperplasia associated with mild myelodysplasia. Liver and renal function tests were normal. Chest X-ray PA view and ECG were normal.

RA factor and antinuclear antibodies were positive (1:40, speckeled). Other antibodies Smith antibodies, USNRP, SS-A, SS-B, antihistone antibodies, anticentromere antibody, and antibodies to contractible nuclear antigen SCL-70 and Jo-1 were all negative using the line immunoassay method.

USG abdomen revealed worsening of hepatic parenchymal echotexture, dilated portal vein (portal vein diameter 12 cm), splenic vein, gross splenomegaly, and collaterals at splenic hilum suggestive of portal hypertension. Liver biopsy was not done. Upper GI endoscopy showed multiple oesophageal webs.

Skin biopsy revealed mild hyperkeratosis, increased pigmentation, and vacuolation in the basal layer along with numerous melanophages in the superficial dermis [Figure 5].{Figure 5}

Based on patient's history, cutaneous, oral, nail, laboratory, and histopathological findings, a diagnosis of DKC was made.

DKC is a multisystem genodermatosis where distinctive mucocutaneous lesions occur in combination with bone marrow failure, pulmonary disease, and an increased risk of malignancy.[1]

X-linked recessive inheritance is the most common form but autosomal recessive and autosomal dominant inheritance has also been observed.[1],[2],[4] The underlying defect is telomerase. The X-linked recessive form has one gene defect in DKC 1 gene.

Dyskeratosis Congenita a rare multisystem disease with early morbidity and mortality due to progressive bone marrow failure, predisposition of malignancy, and fatal pulmonary infections.[3]

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Conflicts of interest

There are no conflicts of interest.

Declaration of patient consent

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


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2Walne AJ, Vulliamy T, Marrone A, Beswick R, Kirwan M, Masunari Y. Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. Hum Mol Genet. 2007;16:1619-29.
3Tchou PK, Kohn T. Dyskeratosis congenita: An autosomal dominant disorder. J Am Acad Dermatol 1982;6:1034-9.
4Vulliamy TJ, Marrone A, Knight SW, Walne A, Mason PJ, Dokal I. Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood. 2006;107:2680-85.