1. ¹Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway
2. ²Department of Internal Medicine, St Olav's University Hospital, Trondheim, Norway
3. ³Department of Dermatology, Førde Hospital, Førde, Norway
4. ⁴Department of Clinical Genetics, Institute of Child Health, University College London, London, UK

Correspondence: Dr G Houge, Centre for Medical Genetics and Molecular Medicine, Haukeland University Hospital, N-5021 Bergen, Norway. Tel: +47 55975444; Fax: +47 55975479; E-mail: gunnar.houge@helse-bergen.no

Received 19 October 2006; Revised 18 January 2007; Accepted 31 January 2007; Published online 7 March 2007.

Abstract

We report on a four-generation family with localized subepidermal telangiectasias following Blaschko's lines (angioma serpiginosum). The vascular streaks are present at birth and progress slowly thereafter. In several family members papillomatosis of the entire oesophagus was found to be part of the condition. Mild nail and hair dystrophy added to the resemblance of Goltz–Gorlin syndrome (focal dermal hypoplasia), suggesting that the present condition could be a mild variant. All affected family members are females, there is no increased miscarriage rate, and X-inactivation in affected females is highly skewed, compatible with X-linked dominant inheritance with very early in utero lethality in males. In the family, 11 informative meioses were available to study the segregation of X-chromosome markers. Significant linkage (LOD score 3.31) was found to a region flanked by markers DXS8026 and DXS106 (44–67 Mb from Xpter) that includes the centromere.