Dyskeratosis congenita with linear areas of severe cutaneous involvement

Abstract

Dyskeratosis congenita (DC) is a rare hereditary disorder of skin which may be associated with aplastic anemia. The pattern of inheritance is X-linked recessive in most instances, but autosomal dominant and autosomal recessive types have been documented. Reticulated hyperpigmentation usually is the first manifestation. The pigmentary changes may be limited to neck, upper chest, and proximal parts of the limbs initially but within affected areas the involvement is always diffuse. We report on a patient with typical diffuse cutaneous signs of dyskeratosis congenita superimposed with hyperpigmentation that was more pronounced along Blaschko's lines. To explain this phenomenon, we assume that the patient has the autosomal dominant type and that loss of heterozygosity occurred in a somatic cell giving rise to a population of cells that migrated along these lines during embryogenesis.

Nail manifestations of some important genetic disorders in children

“…There are X-linked recessive, autosomal recessive, and autosomal dominant pedigrees reported (17). There are X-linked recessive, autosomal recessive, and autosomal dominant pedigrees reported (17).…”

“…This is a rare disorder characterized by major features of nail dystrophy, reticulate hyperpigmentation, mucosal leukokeratosis, and bone marrow failure. There are X-linked recessive, autosomal recessive, and autosomal dominant pedigrees reported (17). The X-linked form has been shown to be caused predominantly by missense mutations in the DKC1 gene, which codes for dyskerin, a nucleolar protein (18).…”

The gastrointestinal manifestations of telomere‐mediated disease

“…Supplementary Table 1 summarizes the 24 upper GI cases(Addison and Rice, 1965; Arca et al, 2003; Baselga et al, 1998; Berezin et al, 1996; de Roux-Serratrice et al, 2000; Demirgunes et al, 2008; Dokal et al, 1992; Elliott et al, 1999; Ghavamzadeh et al, 1999; Handley and Ogden, 2006; Herman et al, 1997; Kanegane et al, 2005; Knight et al, 1999; Krishnan et al, 1997; Paul et al, 1992; Robledo Aguilar et al, 1974; Russo et al, 1990; Sasa et al, 2011; Sawant et al, 1994; Sznajer et al, 2003; Utz et al, 2005; Yaghmai et al, 2000), and Supplementary Table 2 the 23 lower GI cases(Arca et al, 2003; Berezin et al, 1996; Berthet et al, 1994; Borggraefe et al, 2009; Cossu et al, 2002; Jyonouchi et al, 2011; Kehrer et al, 1992; Knight et al, 1999; Paul et al, 1992; Sasa et al, 2011; Steier et al, 1972; Sznajer et al, 2003; Touzot et al, 2010). Dysphagia was the most common upper GI complaint, and esophageal stenosis the most prevalent diagnosis (23 of 24 cases, 96%).…”

“…Mean age at was 11.4 years (1 month-27 years). Strictures localized to the proximal esophagus (8 of 9, 89%), and symptoms improved after dilatation but repeat procedure was at times required(Addison and Rice, 1965; Baselga et al, 1998; Paul et al, 1992). Stenosis was congenital in 4 cases with poor feeding since birth(Knight et al, 1999; Russo et al, 1990; Sznajer et al, 2003; Yaghmai et al, 2000), while older children had long-standing swallowing difficulties.…”