Dyskeratosis congenita Clinical features

Classical dyskeratosis congenita (DC) is an inherited disease characterized by the triad of abnormal skin pigmentation, nail dystrophy and mucosal leucoplakia (Figure 12.4). Since its first description in 1906 by Zinsser, a variety of non-cutaneous

Dyskeratosis Congenita

Table 12.5 Somatic abnormalities in dyskeratosis congenita.

Abnormality Percentage of patients

Table 12.5 Somatic abnormalities in dyskeratosis congenita.

Abnormality Percentage of patients

Abnormal skin pigmentation

89

Nail dystrophy

88

Bone marrow failure

85.5

Leucoplakia

78

Epiphora

30.5

Learning difficulties/developmental

25.4

delay/mental retardation

Pulmonary disease

20.3

Short stature

19.5

Extensive dental caries/loss

16.9

Oesophageal stricture

16.9

Premature hair loss/greying/sparse eyelashes

16.1

Hyperhiderosis

15.3

Malignancy

9.8

Intrauterine growth retardation

7.6

Liver disease/peptic ulceration/enteropathy

7.3

Ataxia/cerebellar hypoplasia

6.8

Hypogonadism/undescended testes

5.9

Microcephaly

5.9

Urethral stricture/phimosis

5.1

Osteoporosis/aseptic necrosis/scoliosis

5.1

Deafness

0.8

(dental, gastrointestinal, genitourinary, neurological, ophthalmic, pulmonary and skeletal) abnormalities have also been reported (Table 12.5). BM failure is the principal cause of early mortality, with an additional predisposition to malignancy and fatal pulmonary complications. X-linked recessive, autosomal dominant and autosomal recessive forms of the disease are recognized. It is therefore now acknowledged that DC is a very heterogeneous disorder, both clinically and genetically.

Clinical manifestations in DC often appear during childhood. The skin pigmentation and nail changes typically appear first, usually by the age of 10 years. BM failure usually develops below the age of 20 years; 80-90% of patients will have developed BM abnormalities by the age of 30 years. In some cases, the BM abnormalities may appear before the mucocutaneous manifestations and the patients may be categorized to have 'idiopathic aplastic anaemia'. The main causes of death are BM failure/ immunodeficiency (~60-70%o), pulmonary complications (~10-15%) and malignancy (~10%).

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