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Clouston Syndrome Can Mimic Pachyonychia Congenita

Published byIsabel Valverde Núñez Modified over 5 years ago

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Presentation on theme: "Clouston Syndrome Can Mimic Pachyonychia Congenita"— Presentation transcript:

1 Clouston Syndrome Can Mimic Pachyonychia Congenita
Maurice A.M. van Steensel, Michel van Geel, Peter M. Steijlen  Journal of Investigative Dermatology  Volume 121, Issue 5, Pages (November 2003) DOI: /j x Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Clinical findings. (a) Fingernail of the proband in family 1, showing subungual hyperkeratosis and severe curvature of the nail. These features strongly resemble the type of nail dystrophy observed in PC due to keratin mutations; however, in this patient the causative mutation is G11R in the connexin 30 gene. (b) The proband of family 1 (shown here) and other affected individuals in this kindred had nearly complete alopecia. Only a few remaining hairs in the temporal region can be seen. (c) Severe hypertrophic nail dystrophy of the toenails in the proband from family 2. This patient carries the heterozygous missense mutation G11R in the connexin 30 gene. (d) Fingernails of the proband in family 3 showing some thickening of the nail plate, distal onycholysis, subungual hyperkeratosis, and paronychia. (e) Toenails of the proband in family 3 showing thickening and abnormal curvature of the nails. This patient carries heterozygous missense mutation A88V in the connexin 30 gene. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Molecular genetic analysis. (a) Normal GBJ6 sequence corresponding to codons 8–14. (b) The same region of the GBJ6 gene as shown in (a) from the proband in family 1 showing heterozygous missense mutation 31G→A (arrow) predicting the amino acid change G11R (sequencing data from family 2 not shown). (c) Normal GBJ6 sequence corresponding to codons 85–91. (d) The same region of the GBJ6 gene as shown in (c) from the proband in family 3 showing heterozygous missense mutation 263C→T (arrow) that predicts amino acid change A88V. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

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