Galli-Galli disease: A case report with review of the literature

Gilchrist, Heidi; Jackson, Scott M.; Morse, Lisa; Nesbitt, Lee T.

doi:10.1016/j.jaad.2007.05.041

Cited by 42 publications

(51 citation statements)

References 3 publications

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“…DDD is also an important differential diagnosis for circumscribed lentiginous skin disorders. This autosomal dominant disease is characterized by progressive and disfiguring reticulated hyperpigmentation of flexures (axilla, groin, neck), which is true also for the acantholytic variant of DDD, Galli-Galli disease [14]. In contrast, our patient revealed disseminated brownish-pigmented macules and flat papules on the temples, décolleté, arms and legs.…”

Section: Discussionmentioning

confidence: 55%

Generalized Solar Lentigines in a Patient with a History of Radon Exposure

Mauerer

Betz²,

Pasternack³

et al. 2010

Dermatology

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A woman with generalized lentigines without associated non-cutaneous abnormalities is described. The patient showed brownish-pigmented flat or slightly elevated spots with a diameter of 1–5 mm. The histopathology of the lesions was compatible with a diagnosis of solar lentigines (SLs) or flat seborrhoeic keratosis. Unlike SLs, which develop typically on sun-damaged skin of the face, the dorsum of the hands and forearms, this patient showed the lentigines most prominently on the thighs and lower legs. Besides increased recreational UV exposure, the patient had a history of occupational radon exposure in a spa with radon-containing water. Genetic analysis identified a p.S249C FGFR3 hotspot mutation in 1 lesion, supporting the diagnosis of SLs. It remains elusive whether the occupational exposure to radon-containing water in addition to the recreational UV light exposure caused the unusual distribution of the SLs in this patient.

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Section: Discussionmentioning

confidence: 55%

Generalized Solar Lentigines in a Patient with a History of Radon Exposure

Mauerer

Betz²,

Pasternack³

et al. 2010

Dermatology

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“…6 A characteristic finding of Galli-Galli diseases is the presence of pruritic papular or papulosquamous or papulovesicular eruption, often excoriated because of pruritus, similar to Grover disease. 1,[3][4][5][8][9][10] Biopsy of the papular lesions reveals, in addition to filiform elongated rete ridges with basal hyperpigmentation, suprabasal acantholysis in all lesions, whereas dyskeratosis is identified in only some of the cases. Thus, acantholysis, but not dyskeratosis, is the histological hallmark of Galli-Galli disease.…”

Section: Discussionmentioning

confidence: 99%

Atypical Variant of Galli–Galli Disease (Grover-Like Eruption With Lentiginous Freckling) in a Liver Transplant Patient

Rongioletti

Fausti

Christana

et al. 2011

The American Journal of Dermatopathology

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Galli-Galli disease is considered as a rare variant of Dowling-Degos disease, sharing the same clinical features of reticulate hyperpigmentation of the flexures. Histopathologically, there is acantholysis and suparabasal lacunae. Grover disease (transient acantholytic dermatosis) is a transient dermatosis which clinically presents as an eruption of erythematous excoriated papules located on the trunk and histologically with dyskeratosis and acantholysis. Grover disease has occasionally been reported in patients with chronic renal failure, human immunodeficiency virus infection, hematological malignancies, bone marrow allotransplantation, and renal transplantation. We report herein a case of atypical variant of Galli-Galli disease occurring in a liver transplant patient in whom the leading sign of reticulate hyperpigmentation of the large flexures was lacking. Instead, Grover-like, erythematous, keratotic, excoriated papules and lentigo-like macules with predilection for the trunk were found. Histopathology of both, an excoriated papule and a lentigo-like macule revealed the diagnostic features of Galli-Galli disease namely, elongated, pigmented, finger-like rete ridges, intraepidermal lacunae and acantholysis. However, serial sections of the lentigo-like macule were needed to reveal some suprabasal and subcorneal lacunae with minimal acantholysis. Thus, a good clinicopathological correlation is essential to make the right diagnosis of Galli-Galli disease. Although Grover disease has been described in the setting of solid organ transplantation and immunosuppression, this is the first report of an atypical variant of Galli-Galli disease occurring in a liver transplant patient.

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“…Pruritus and/or burning sensations might also feature in clinical presentations. 3 The phenotype can be triggered in some individuals by UV light, mechanical stimulation, or sweating. Histology shows filiform epithelial downgrowth of epidermal rete ridges, with a concentration of melanin at the tips.…”

Section: Dowling-degos Disease (Ddd [Mim 179850 Mim 615327])mentioning

confidence: 99%

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

Basmanav

Oprişoreanu

Pasternack

et al. 2014

The American Journal of Human Genetics

141

153

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Dowling-Degos disease (DDD) is an autosomal-dominant genodermatosis characterized by progressive and disfiguring reticulate hyperpigmentation. We previously identified loss-of-function mutations in KRT5 but were only able to detect pathogenic mutations in fewer than half of our subjects. To identify additional causes of DDD, we performed exome sequencing in five unrelated affected individuals without mutations in KRT5. Data analysis identified three heterozygous mutations from these individuals, all within the same gene. These mutations, namely c.11G>A (p.Trp4*), c.652C>T (p.Arg218*), and c.798-2A>C, are within POGLUT1, which encodes protein O-glucosyltransferase 1. Further screening of unexplained cases for POGLUT1 identified six additional mutations, as well as two of the above described mutations. Immunohistochemistry of skin biopsies of affected individuals with POGLUT1 mutations showed significantly weaker POGLUT1 staining in comparison to healthy controls with strong localization of POGLUT1 in the upper parts of the epidermis. Immunoblot analysis revealed that translation of either wild-type (WT) POGLUT1 or of the protein carrying the p.Arg279Trp substitution led to the expected size of about 50 kDa, whereas the c.652C>T (p.Arg218*) mutation led to translation of a truncated protein of about 30 kDa. Immunofluorescence analysis identified a colocalization of the WT protein with the endoplasmic reticulum and a notable aggregating pattern for the truncated protein. Recently, mutations in POFUT1, which encodes protein O-fucosyltransferase 1, were also reported to be responsible for DDD. Interestingly, both POGLUT1 and POFUT1 are essential regulators of Notch activity. Our results furthermore emphasize the important role of the Notch pathway in pigmentation and keratinocyte morphology.

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Galli-Galli disease: A case report with review of the literature

Cited by 42 publications

References 3 publications

Generalized Solar Lentigines in a Patient with a History of Radon Exposure

Generalized Solar Lentigines in a Patient with a History of Radon Exposure

Atypical Variant of Galli–Galli Disease (Grover-Like Eruption With Lentiginous Freckling) in a Liver Transplant Patient

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

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