Ann Dermatol.  2019 Oct;31(5):581-584. 10.5021/ad.2019.31.5.581.

Co-Occurrence of Autosomal Recessive Lamellar Ichthyosis and X-Linked Recessive Ichthyosis in a Consanguineous Pakistani Family

• Karim N
• Iqbal J
• Naeem M

• KMID: 2456239
• DOI: http://doi.org/10.5021/ad.2019.31.5.581

Abstract

No abstract available.

MeSH Terms

Humans
Ichthyosis*
Ichthyosis, Lamellar*

Figure

• 

  Fig. 1 (A) Pedigree of the studied family. Squares and circles represent males and females, respectively. Clear and filled symbols are indicative of unaffected and affected status of individuals, respectively. Symbols with crossed lines indicate deceased individuals. Double lines denote consanguineous marriage and an arrow at the left bottom corner of symbol denotes proband. (B~E) Phenotypic appearance at different anatomic sites of the affected individual V-1. (F~H) Phenotypic appearance at different anatomic sites of the affected individual V-2.

• 

  Fig. 2 Screening of TGM1 and STS in the affected individuals. (A) Chromatogram demonstrating mutation c.424C>T in exon 3 of TGM1 in V-1 and (B) in V-2, (C) polymerase chain reaction amplification of STS exons using gDNA of affected individuals V-1 and V-2 and an ethnically matched positive control. a=exon 7_V-2 (443 bp), b=exon 8_V-2 (682 bp), c=exon 9_V-2 (485 bp), d=exon 10_V-2 (757 bp), e=exon 7_V-1 (443 bp), f=exon 8_V-1 (682 bp), g=ladder, h=exon 9_V-1 (485 bp), I=exon 10_V-1 (757 bp), j=exon 7_control (443 bp), k=exon 8_control (682 bp), l=exon 9_control (485 bp), m=exon 10_control (757 bp).

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