|Year : 1992 | Volume
| Issue : 3 | Page : 195-197
Dyskeratosis congenita - Report of a family
TJ Devi Rema, PA Sarojini, Babu Mathew
TJ Devi Rema
This study includes 5 members with dyskeratosis congenita and 8 other affected members in the family who were not available for study. Three successive generations were involved suggesting an autosomal dominant pattern of inheritance. Two had bluish discolouration of the nails in addition to the other features. To our knowledge this has not been reported so far.
|How to cite this article:|
Rema TD, Sarojini P A, Mathew B. Dyskeratosis congenita - Report of a family.Indian J Dermatol Venereol Leprol 1992;58:195-197
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Rema TD, Sarojini P A, Mathew B. Dyskeratosis congenita - Report of a family. Indian J Dermatol Venereol Leprol [serial online] 1992 [cited 2019 Oct 19 ];58:195-197
Available from: http://www.ijdvl.com/text.asp?1992/58/3/195/3793
Dyskeratosis congenita is a rare syndrome characterised by poikiloderma, nail dystrophy and leukokeratosis of mucous members in addition to the involvement of other systems. The syndrome was first described by Zinsser in 1906 in 2 brothers aged 18 and 29 years. Since then about 68 cases have been described. We report 5 cases of dyskeratosis congenita in a family with history of similar illness in 8 other members.
Case 1 : The proband was a 28-year-old male patient who had generalised hyperpigmentation which had been present for 10 years. He was mentally subnormal since birth. There was widespread reticulate hyperpigmentation most marked on the neck, upper trunk, palms and soles and also in the oral cavity [Figure 1]. The nails of all digits showed longitudinal pigmentation, ridges, splits, pterygium and onycholysis [Figure 2]. He had palmoplantar hyperkeratosis and oral white patches giving a cobblestone appearance [Figure 1]. A pansystolic murmur of mitral regurgitation was heard. Moderate firm splenomegaly was present.
His haemoglobin was 4.5 g/dl and total WBC count 8000 cells/cmm with 58 percent polymorphs, 38 percent lymphocytes and 4 percent eosinophils. His ESR was 145 mm in 1st hour. Peripheral smear showed hypochromia, anisopoikilocytosis of RBCs and marked reduction in platelets. Bone marrow showed erythroid hyperplasia. Serum proteins were 6.8 gm/dl with serum albumin of 1.8 g/dl. Serum protein electrophoresis showed a marginally raised globulin fraction with a reduced albumin. An echocardiogram showed mitral and aortic valve thickening suggestive of rheumatic heart disease with mitral regurgitation. An ultrasound scan of the abdomen revealed moderate splenomegaly and dilated portal venous system probably secondary to the splenomegaly.
Case 2 : The 29-year-old elder sister of the proband had generalized reticulate hyperpigmentation for 11 years. She had nail dystrophy but no oral leukokeratosis, splenomegaly or thrombocytopaenia.
Case 3 : The proband's younger sister (age 21 years) had similar pigmentation for 1 year and had mild mental retardation since birth. Bluish discolouration of nails with longitudinal ridges were observed. There was diffuse irregular pigmentation of the palate, buccal mucosa, white patches on the tongue resembling cobble stone, loose anterior teeth and first molars and loss of upper left central incisor [Figure 3]. Platelet count was 37,000/cmm. Skin biopsy showed epidermal atrophy, increased pigmentation of the basal layers and melanophages in the upper dermis. Oral biopsy showed epithelial atrophy and hypertrophy, increased pigmentation of basal layer and dysplastic changes in one area.
Case 4 : Similar pigmentation of the skin and mucous membranes was noted in the youngest of the siblings. Nail dystrophy was also seen.
Case 5 : The father of the siblings had pigmentation of the skin and nail dystrophy which were present since early childhood.
There is a reliably corroborated history of similar pigmentation of the skin in 8 other family members [Figure 4].
The diagnosis of dyskeratosis congenita in our patients is suggested by the presence of the triad of skin pigmentation, oral white patches, and nail dystrophy. The presence of thrombocytopenia (2 cases) and splenomegaly (1 case) further supports the diagnosis. Leukoplakia of the oral and anogenital regions has earlier been reported.  Cobble stone appearance of oral mucosa was seen in our patients. One patient had suffered a tooth loss. Dental dystrophy and palmoplantar hyperkeratosis and hyperhidrosis are prominent features of the syndrome. Palmoplantar hyperkeratosis was seen in all our 5 patients. Two of our cases had mild mental subnormality. In about 50 percent of cases splenomegaly, aplastic anemia and hypersplenism are found.  In our cases splenomegaly was seen in 1 case and thrombocytopenia in 2 cases.
Dyskeratosis congenita is inherited as an X-linked or autosomal dominant pattern.  In our cases an autosomal dominant pattern is suggested by the affection of both sexes in 3 successive generations. To the best of our knowledge, the association with blue nails, seen in our 2 cases, has not been reported so far. One case has earlier been reported from India which had associated adenocarcinoma of stomach.  There was no evidence of any malignancy in our cases though dysplastic changes in the oral mucosa was seen in one. The presence of rheumatic heart disease in 1 case may be fortuitous.
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