Limits...
Heterozygous frameshift mutation in keratin 5 in a family with Galli-Galli disease.

Reisenauer AK, Wordingham SV, York J, Kokkonen EW, Mclean WH, Wilson NJ, Smith FJ - Br. J. Dermatol. (2014)

Bottom Line: Hypopigmented macules were seen among the hyperpigmentation.This mutation occurs within the head domain of the keratin 5 protein leading to a frameshift and premature stop codon.From the histological findings and mutation analysis the individual was identified as having GGD due to haploinsufficiency of keratin 5.

View Article: PubMed Central - PubMed

Affiliation: Kaiser Permanente, 1279 S. Kihei Rd, Kihei, HI, U.S.A.

No MeSH data available.


Related in: MedlinePlus

(a,b) Histopathological features of Galli–Galli disease. (a) A biopsy from the right axilla reveals sparse superficial to mid-dermal perivascular lymphocytic infiltrate with papillary dermal melanophages. Foci of intraepidermal acantholysis can mimic focal acantholytic dyskeratosis. Haematoxylin–eosin (H&E) staining; original magnification: ×10. (b) Extensive suprabasilar acantholysis leads to an intraepidermal split, indicated by the asterisk. H&E staining; original magnification: ×20. (c,d) Mutation analysis. (c) Normal KRT5 sequence in exon 1, showing nucleotides 34–51. (d) The region equivalent to that in (a) from the proband showing heterozygous mutation c38dupG (arrow) leading to a premature stop codon, Ser14GlnfsTer3. K5, keratin 5.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC4150463&req=5

fig02: (a,b) Histopathological features of Galli–Galli disease. (a) A biopsy from the right axilla reveals sparse superficial to mid-dermal perivascular lymphocytic infiltrate with papillary dermal melanophages. Foci of intraepidermal acantholysis can mimic focal acantholytic dyskeratosis. Haematoxylin–eosin (H&E) staining; original magnification: ×10. (b) Extensive suprabasilar acantholysis leads to an intraepidermal split, indicated by the asterisk. H&E staining; original magnification: ×20. (c,d) Mutation analysis. (c) Normal KRT5 sequence in exon 1, showing nucleotides 34–51. (d) The region equivalent to that in (a) from the proband showing heterozygous mutation c38dupG (arrow) leading to a premature stop codon, Ser14GlnfsTer3. K5, keratin 5.

Mentions: Histological analysis of a biopsy showed lentiginous epidermal hyperplasia with elongated rete ridges and suprapapillary plate thinning, focal orthokeratosis, small milia-like cysts and keratin plugs, and suprabasilar acantholysis (Fig. 2a,b).


Heterozygous frameshift mutation in keratin 5 in a family with Galli-Galli disease.

Reisenauer AK, Wordingham SV, York J, Kokkonen EW, Mclean WH, Wilson NJ, Smith FJ - Br. J. Dermatol. (2014)

(a,b) Histopathological features of Galli–Galli disease. (a) A biopsy from the right axilla reveals sparse superficial to mid-dermal perivascular lymphocytic infiltrate with papillary dermal melanophages. Foci of intraepidermal acantholysis can mimic focal acantholytic dyskeratosis. Haematoxylin–eosin (H&E) staining; original magnification: ×10. (b) Extensive suprabasilar acantholysis leads to an intraepidermal split, indicated by the asterisk. H&E staining; original magnification: ×20. (c,d) Mutation analysis. (c) Normal KRT5 sequence in exon 1, showing nucleotides 34–51. (d) The region equivalent to that in (a) from the proband showing heterozygous mutation c38dupG (arrow) leading to a premature stop codon, Ser14GlnfsTer3. K5, keratin 5.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4150463&req=5

fig02: (a,b) Histopathological features of Galli–Galli disease. (a) A biopsy from the right axilla reveals sparse superficial to mid-dermal perivascular lymphocytic infiltrate with papillary dermal melanophages. Foci of intraepidermal acantholysis can mimic focal acantholytic dyskeratosis. Haematoxylin–eosin (H&E) staining; original magnification: ×10. (b) Extensive suprabasilar acantholysis leads to an intraepidermal split, indicated by the asterisk. H&E staining; original magnification: ×20. (c,d) Mutation analysis. (c) Normal KRT5 sequence in exon 1, showing nucleotides 34–51. (d) The region equivalent to that in (a) from the proband showing heterozygous mutation c38dupG (arrow) leading to a premature stop codon, Ser14GlnfsTer3. K5, keratin 5.
Mentions: Histological analysis of a biopsy showed lentiginous epidermal hyperplasia with elongated rete ridges and suprapapillary plate thinning, focal orthokeratosis, small milia-like cysts and keratin plugs, and suprabasilar acantholysis (Fig. 2a,b).

Bottom Line: Hypopigmented macules were seen among the hyperpigmentation.This mutation occurs within the head domain of the keratin 5 protein leading to a frameshift and premature stop codon.From the histological findings and mutation analysis the individual was identified as having GGD due to haploinsufficiency of keratin 5.

View Article: PubMed Central - PubMed

Affiliation: Kaiser Permanente, 1279 S. Kihei Rd, Kihei, HI, U.S.A.

No MeSH data available.


Related in: MedlinePlus