Ann Dermatol.  2016 Aug;28(4):503-505. 10.5021/ad.2016.28.4.503.

Homozygous Deletion Mutation of the FERMT1 Gene in a Chinese Patient with Kindler Syndrome

• Oh SJ
• Kim SE
• Lee SE
• Kim SC

• KMID: 2344826
• DOI: http://doi.org/10.5021/ad.2016.28.4.503

Abstract

No abstract available.

MeSH Terms

Asian Continental Ancestry Group*
Humans
Sequence Deletion*

Figure

• 

  Fig. 1 Clinical features of the patient. (A, B) Poikiloderma on the face and neck. (C) Atrophic change on the dorsal aspect of hand. (D) Skin atrophy with resolving blisters on the leg.

• 

  Fig. 2 (A) Histological examination. Hyperkeratosis and epidermal atrophy (H&E, ×400). (B, C) Immunofluorescence mapping shows separation between keratin 5 (KRT5) and type IV collagen (COL4). KRT5 is localized at the roof of the blister (B) while COL4 is localized at the base (C). (D) Electron microscopic features. Stretches of lamina lucida (asterisks) and reduplication of lamina densa (arrows) (bar=2,000 nm). (E) Genetic analysis of the FERMT1 gene shows homozygous mutation at c.994_995delCA.

Reference

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