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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

Clinical features of Galli–Galli disease. Hyperpigmented slightly scaly papules coalescing in a reticulate fashion over flexural areas, including (a) the anterior neck and (b) axillae; (c) reddish-brown thin papules (5–9 mm) in the inframammary area with multiple 4–7-mm hypopigmented macules scattered on the abdomen; (d) hypopigmented Galli–Galli disease macules on the forearm.
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fig01: Clinical features of Galli–Galli disease. Hyperpigmented slightly scaly papules coalescing in a reticulate fashion over flexural areas, including (a) the anterior neck and (b) axillae; (c) reddish-brown thin papules (5–9 mm) in the inframammary area with multiple 4–7-mm hypopigmented macules scattered on the abdomen; (d) hypopigmented Galli–Galli disease macules on the forearm.

Mentions: A 48-year-old Asian-American woman presented with a 20-year history of pruritus and an ever-present rash. Initially the rash was present on the flexural surface of her arms, and gradually spread to involve her neck, axillae and breast folds. The pruritus characteristics were made worse on extreme heat and perspiration. There were no relieving factors reported and no history of pain or photosensitivity. Physical examination revealed hyperpigmented and erythematous macules and thin scaly papules coalescing into plaques along the flexor surfaces of her arms, her upper back and neck, axillae and inframammary areas (Fig. 1). Amidst the hyperpigmentation were scattered hypopigmented macules. She also had a discrete area of hypopigmentation on her abdomen. Comedonal-like papules were present on her chin and perioral area while there were focal areas of pitted scarring on her cheeks. She was initially prescribed hydrocortisone cream 2·5% twice daily and tretinoin cream 0·025% once nightly. The tretinoin cream was subsequently stopped because of skin irritation. Subsequently she has used hydrocortisone cream twice weekly and daily emollients as needed.


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)

Clinical features of Galli–Galli disease. Hyperpigmented slightly scaly papules coalescing in a reticulate fashion over flexural areas, including (a) the anterior neck and (b) axillae; (c) reddish-brown thin papules (5–9 mm) in the inframammary area with multiple 4–7-mm hypopigmented macules scattered on the abdomen; (d) hypopigmented Galli–Galli disease macules on the forearm.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

fig01: Clinical features of Galli–Galli disease. Hyperpigmented slightly scaly papules coalescing in a reticulate fashion over flexural areas, including (a) the anterior neck and (b) axillae; (c) reddish-brown thin papules (5–9 mm) in the inframammary area with multiple 4–7-mm hypopigmented macules scattered on the abdomen; (d) hypopigmented Galli–Galli disease macules on the forearm.
Mentions: A 48-year-old Asian-American woman presented with a 20-year history of pruritus and an ever-present rash. Initially the rash was present on the flexural surface of her arms, and gradually spread to involve her neck, axillae and breast folds. The pruritus characteristics were made worse on extreme heat and perspiration. There were no relieving factors reported and no history of pain or photosensitivity. Physical examination revealed hyperpigmented and erythematous macules and thin scaly papules coalescing into plaques along the flexor surfaces of her arms, her upper back and neck, axillae and inframammary areas (Fig. 1). Amidst the hyperpigmentation were scattered hypopigmented macules. She also had a discrete area of hypopigmentation on her abdomen. Comedonal-like papules were present on her chin and perioral area while there were focal areas of pitted scarring on her cheeks. She was initially prescribed hydrocortisone cream 2·5% twice daily and tretinoin cream 0·025% once nightly. The tretinoin cream was subsequently stopped because of skin irritation. Subsequently she has used hydrocortisone cream twice weekly and daily emollients as needed.

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