Morbus Galli-Galli

Abstract

Galli-Galli disease, a rare genodermatosis belonging to the spectrum of reticulate pigment dermatoses, is classified as an acantholytic variant of Dowling-Degos disease on the basis of its characteristic clinical and histological findings. In the context of this case series, Galli-Galli disease is characterized in detail based on the clinical and histopathological evaluation of 18 patients. The disease pattern is discussed in view of the current literature. In addition, a classification into two clinical subtypes is made and a genotype/phenotype correlation with mutations in the keratin 5 (KRT5) gene is established.

Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease

“…These individuals were all described and characterized previously under a distinct clinical subtype suggested for DDD/Galli-Galli disease. 9 Specifically, affected individuals presented with a disseminated pattern of brownish macular and lentiginous lesions on the extremities, trunk/back and neck without the typical domination of the flexural folds observed in classical DDD (Figures 1A-1F). 9 Among the five selected individuals with DDD, three reported no family history of DDD.…”

“…9 Specifically, affected individuals presented with a disseminated pattern of brownish macular and lentiginous lesions on the extremities, trunk/back and neck without the typical domination of the flexural folds observed in classical DDD (Figures 1A-1F). 9 Among the five selected individuals with DDD, three reported no family history of DDD. One male individual reported that his father was affected by skin abnormalities similar to his own (Figure 1G), and one female individual reported that her sister and probably her mother exhibited skin abnormalities similar to her own ( Figure 1H).…”

“…[5][6][7][8] In subsequent years, we screened more than 40 individuals with DDD and found KRT5 mutations in fewer than 50%, with only 16 simplex and familial cases. 9,10 Thus, the causes of a large number of unsolved cases of DDD remain to be explained. In some individuals with DDD, who had originally been diagnosed with Galli-Galli disease (GGD), the additional histopathological feature of acantholysis was observed.…”

Pruritic erythematous papules and brown macules on the trunk and lower extremities

“…Die Erstmanifestation des MGG ist variabel und liegt im frühen Jugend-bis mittleren Erwachsenenalter [ 3 ] . Klinisch zeigen sich typischerweise symmetrisch verteilte, retikuläre, teils lentiginöse Pigmentierungen und erosive oder hyperkeratotische, erythematös-bis bräunliche Papeln insbesondere im Bereich der Beugen und Intertrigines [ 5 ] . Häufi g besteht begleitend ein Pruritus [ 2,3 ] .…”

The first report of krt5 mutation underlying acantholytic dowling-degos disease with mottled hypopigmentation in an Indian family

“…It classically presents with reticulate pigmentation, usually hyperpigmented macules in combination with hyperkeratotic papules mainly of the flexures;[1] Cases with disseminated monomorphous reddish-brown macules and papules have also been described. [23] Recently, it has been shown that the most common mutation in the keratin 5 (KRT5) gene (c. 418dupA; p.Ile140AsnfsX39) is seen in Galli-Galli disease (GGD) as well as Dowling-Degos disease. Although the clinical picture of both forms is indistinguishable,[4] detection of acantholysis on histopathological evaluation in GGD patients is believed to be the differentiating criterion between GGD and DDD.…”