Dowling-Degos Disease

An autosomal dominant genetically heterogeneous skin disorder characterized by reticular pigmentation, usually in a flexural distribution, or with numerous hypopigmented or erythematous macules and papules on the neck, chest, and abdomen. The histopathology of DDD shows characteristic thin branch-like patterns of epidermal downgrowth. Mutations in the KRT5 gene have been identified for DDD1. OMIM: 179850

Also Known As:

Networked: 80 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Dowling-Degos Disease
2.	Hyperpigmentation
3.	Cicatrix (Scar)
4.	Neoplasms (Cancer)
5.	Hidradenitis Suppurativa

Experts

1.	Haltiwanger, Robert S: 4 articles (01/2021 - 10/2015)
2.	Betz, Regina C: 4 articles (04/2017 - 03/2006)
3.	Hanneken, Sandra: 3 articles (01/2014 - 03/2006)
4.	Kruse, Roland: 3 articles (01/2014 - 03/2006)
5.	Frank, Jorge: 2 articles (02/2022 - 04/2017)
6.	Akiyama, Masashi: 2 articles (02/2019 - 09/2013)
7.	Kono, Michihiro: 2 articles (02/2019 - 09/2013)
8.	Takeuchi, Hideyuki: 2 articles (01/2018 - 01/2016)
9.	Takeuchi, Megumi: 2 articles (01/2018 - 01/2016)
10.	Altmüller, Janine: 2 articles (04/2017 - 01/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Dowling-Degos Disease:

1.	RetinoidsIBA 10/01/1987 - "[Dowling-Degos disease: unsuccessful therapeutic trial with retinoids]."
2.	Dichlorodiphenyldichloroethane (DDD)IBA 11/01/2023 - "Dowling Degos disease (DDD) is a rare autosomal dominant genodermatosis characterized by acquired, slowly progressive reticulated pigmented lesions primarily involving flexural skin areas. " 03/01/2022 - "Dowling-Degos Disease (DDD) is a rare and disfiguring autosomal dominant genodermatosis characterized by reticulate hyperpigmented macules or follicular comedone-like papules in the intertriginous areas that typically presents in the third or fourth decade of life. " 09/01/2021 - "Dowling-Degos disease (DDD) is an autosomal dominant disorder with variable phenotypic expression. " 04/01/2019 - "Dowling-Degos disease (DDD) is a rare genodermatosis primarily presenting with reticulated pigmentation of the flexures. " 02/01/2019 - "We speculate that the pathogenesis of RAK and Dowling-Degos disease (DDD, a pigmentary disease similar to RAK) is associated with the Notch signaling pathway. "
3.	Keratin-5 (Keratin 5)IBA 05/01/2018 - "Whole exome sequencing in a multi-generation family from India reveals a genetic variation c.10C>T (p.Gln4Ter) in keratin 5 gene associated with Dowling-Degos disease." 01/01/2018 - "Dowling-Degos disease with mutation in the exon 1 of the keratin 5 gene." 07/15/2011 - "Dowling-Degos disease is caused by one of several loss-of-function mutations in the keratin 5 gene. " 02/01/2007 - "A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease." 03/01/2006 - "Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease."
4.	Proteins (Proteins, Gene)FDA Link 01/01/2021 - "Alterations in genes encoding for proteins that control fucosylation are known to play causative roles in several developmental disorders, such as Dowling-Degos disease 2 and congenital disorder of glycosylation type IIc (CDGIIc). " 01/02/2014 - "Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease." 06/06/2013 - "Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease." 10/01/2015 - "Mutations in human POGLUT1 cause Dowling-Degos Disease, POGLUT1 is overexpressed in a variety of tumor cells, and mutations in the EGF repeats of human CRUMBS proteins are associated with human congenital nephrosis, retinitis pigmentosa and retinal degeneration, suggesting that O-glucosylation of CRUMBS proteins has broad roles in human health. " 02/01/2022 - "Mutations in the genes that encode the human γ-secretase subunits Presenilin-1, Presenilin Enhancer Protein 2, and Nicastrin (NCSTN) are associated with familial hidradenitis suppurativa (HS); and, regarding Presenilin Enhancer Protein 2, also with comorbidity for the hereditary pigmentation disorder Dowling-Degos disease. "
5.	Amyloid Precursor Protein Secretases (beta-Secretase)IBA 11/01/2020 - "Scrotal Dowling-Degos disease caused by a novel frameshift variant in gamma-secretase subunit presenile enhancer gene." 04/03/2017 - "Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa." 02/01/2022 - "Mutations in the genes that encode the human γ-secretase subunits Presenilin-1, Presenilin Enhancer Protein 2, and Nicastrin (NCSTN) are associated with familial hidradenitis suppurativa (HS); and, regarding Presenilin Enhancer Protein 2, also with comorbidity for the hereditary pigmentation disorder Dowling-Degos disease. "
6.	Galactoside 2-alpha-L-fucosyltransferase (Fucosyltransferase 2)IBA 06/06/2013 - "Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease." 01/01/2023 - "Finally, we provide three examples of the application of these methods to unravel the catalytic mechanisms of three disease-related CAZymes: β-galactocerebrosidase (GALC), responsible for Krabbe disease; α-mannoside β-1,6-N-acetylglucosaminyltransferase V (MGAT5), involved in cancer; and O-fucosyltransferase 1 (POFUT1), involved in several human diseases such as leukemia and the Dowling-Degos disease." 04/03/2017 - "Dowling-Degos disease (DDD) is an autosomal-dominant disorder of skin pigmentation associated with mutations in keratin 5 (KRT5), protein O-fucosyltransferase 1 (POFUT1), or protein O-glucosyltransferase 1 (POGLUT1). "
7.	PresenilinsIBA 12/01/2017 - "[Mutations in presenilin in Dowling-Degos disease: Association with follicular occlusion disorder and the notch-signalling pathway]." 02/01/2022 - "Mutations in the genes that encode the human γ-secretase subunits Presenilin-1, Presenilin Enhancer Protein 2, and Nicastrin (NCSTN) are associated with familial hidradenitis suppurativa (HS); and, regarding Presenilin Enhancer Protein 2, also with comorbidity for the hereditary pigmentation disorder Dowling-Degos disease. "
8.	Nonsense Codon (Nonsense Mutation)IBA 12/01/2018 - "A new nonsense mutation in the POGLUT1 gene in two sisters with Dowling-Degos disease." 07/01/2012 - "A novel heterozygous nonsense mutation of keratin 5 in a Chinese family with Dowling-Degos disease."
9.	Melanins (Melanin)IBA 04/01/1980 - "The pigmentary state of Dowling-Degos' disease is another example of melanocyte-keratinocyte interaction where the epidermal melanin pattern and the size of pigment granules are not in striking correlation. " 05/01/1992 - "These findings suggest that the hyperpigmentation of reticulate acropigmentation of Kitamura is the result of an excess amount of melanin production caused by activation of melanocytes in the basal layer."
10.	GlucosyltransferasesIBA 01/02/2014 - "Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease." 04/03/2017 - "Dowling-Degos disease (DDD) is an autosomal-dominant disorder of skin pigmentation associated with mutations in keratin 5 (KRT5), protein O-fucosyltransferase 1 (POFUT1), or protein O-glucosyltransferase 1 (POGLUT1). "

Therapies and Procedures

1.	Solid-State Lasers 12/01/2014 - "A Case of Reticulate Acropigmentation of Kitamura Treated with 532-nm Q-Switched Nd:YAG Laser: 10 Years of Follow-Up Observation." 12/01/2013 - "Treatment of Dowling-Degos disease with fractional Er:YAG laser." 11/01/2003 - "Treatment of Dowling-Degos disease with Er:YAG-laser: results after 2.5 years." 08/01/2002 - "Our case suggest that treatment with the Er:YAG laser might be a successful strategy in Dowling-Degos disease." 08/01/2002 - "A 44-year-old woman suffering from Dowling-Degos disease was treated with the Er:YAG laser pulse energy between 1,000 and 1,200 mJ, three consecutive passes. "
2.	Gas Lasers 01/01/2017 - "Successful Management of Dowling-Degos Disease with Combination of Q-switched Nd: YAG and Fractional Carbon Dioxide Laser."
3.	Laser Therapy (Surgery, Laser) 01/01/2019 - "Full ablative versus fractional ablative laser therapy for Dowling-Degos disease."
4.	Transjugular Intrahepatic Portasystemic Shunt 01/01/1991 - "Except for the classically described hyperpigmentation at the rete ridge tips, the patient has Dowling-Degos disease. "
5.	PUVA Therapy 01/01/2012 - "A literature review failed to provide any indication that PUVA therapy either aggravates or reveals Dowling-Degos disease, a finding which we feel merits mention." 01/01/2012 - "[Extensive Dowling-Degos disease following long term PUVA therapy]."