The First Report of KRT5 Mutation Underlying Acantholytic Dowling-Degos Disease with Mottled Hypopigmentation in an Indian Family |
| |
| Authors: | Shyam Verma Sandra M. Pasternack Arno Rütten Thomas Ruzicka Regina C. Betz Sandra Hanneken |
| |
| Affiliation: | From the Nirvana Skin Clinic, Vadodara, Gujarat, India;1.Institute of Human Genetics, University of Bonn, Bonn, Germany;2.Laboratory of Dermatohistopathology, Friedrichshafen, Germany;3.Department of Dermatology, Ludwig-Maximilian''s University of Munich, Munich, Germany;4.Department of Dermatology, University of Düsseldorf, Medical Faculty, D-40225 Düsseldorf, Germany |
| |
| Abstract: | Galli Galli disease (GGD) is the name given to a rare form of acantholytic Dowling-Degos disease. (DDD), the latter itself being a rare condition. We believe we are describing for the first time in Indian dermatologic literature a case of GGD in a family where 25 persons have DDD and have been able to document a KRT5 mutation in four members of the family. Whereas reticulate pigmentation is a hallmark of DDD there are rare reports of mottled pigmentation with multiple asymptomatic hypopigmented macules scattered diffusely along with the pigmentation. All the cases described here show a mottled pigmentation comprising hypo and hyperpigmented asymptomatic macules. After the clinical diagnosis was made by one of the authors (SV) in India, the German authors repeated histological examination and successfully demonstrated a heterozygous nonsense mutation, c.C10T (p.Gln4X), in exon 1 of the KRT5 gene, from various centers in Munich, Bonn, Dusseldorf and Friedrichschafen in Germany. |
| |
| Keywords: | Acantholytic Dowling-Degos disease Galli Galli disease hypopigmentation Indian skin Keratin 5 mutation |
|
|
