Coexistence of reticulate acropigmentation of Kitamura and Dowling-Degos disease

Cabral, Ana Rita; Santiago, Felicidade; Reis, José

doi:10.4081/dr.2011.e33

Cited by 6 publications

(4 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Both RAPK and DDD are classified as hereditary diseases of reticular pigmentation. 25 Clinical overlap between DDD and RAPK [50][51][52] or AI 53,54 has been reported. In the three diseases, POFUT1, POGLUT1, ADAM10 and PSENEN were shown to be associated with aberrant activation of the Notch receptor.…”

Section: Discussionmentioning

confidence: 99%

KRT5 mutation regulate melanin metabolism through notch signalling pathway between keratinocytes and melanocytes

Jia

Zhang

Wang

et al. 2023

Experimental Dermatology

View full text Add to dashboard Cite

Dowling-Degos disease (DDD) is an autosomal dominant hereditary skin disease classically characterized by acquired reticular hyperpigmentation in flexural sites. 1 Four pathogenic genes have been identified in DDD-namely, keratin 5 (KRT5), 2 protein O-fucosyltransferase 1 (POFUT1), 3 protein O-glucosyltransferase 1 (POGLUT1) 4 and gamma-secretase subunit presenilin enhancer (PSENEN). 5 Mutations in KRT5 lead to the DDD phenotype, and it is expressed only in keratinocytes. 6 KRT5 belongs to the type II intermediate filament (IF) protein families and form the IF cytoskeleton in basal keratinocytes with KRT14. KRT5 has an extended α-helical

show abstract

Section: Discussionmentioning

confidence: 99%

KRT5 mutation regulate melanin metabolism through notch signalling pathway between keratinocytes and melanocytes

Jia

Zhang

Wang

et al. 2023

Experimental Dermatology

View full text Add to dashboard Cite

show abstract

“…[29][30][31][32] Overlaps in genetic reticulate pigmentary disorders Although each disorder above are characterized with unique phenotype, they still overlap greatly. There have been many reports on the coexistence of DDD and RAPK in the literature, [33][34][35][36] and the patients had reticulated hyperpigmentation in the dorsa of hands and feet, axillae and palmoplantar pits. Skin biopsy from hyperpigmented lesion revealed filiform elongation of rete ridges with hyperpigmentation of basilar keratinocytes and clusters of melanocytes at the tip of the rete ridges.…”

Section: Development Of Melanocytes Lineage and Melanogenesismentioning

confidence: 99%

The Role of Notch Signaling in Genetic Reticular Pigmentary Disorders

Jia

Luo

et al. 2021

International Journal of Dermatology and Venereology

View full text Add to dashboard Cite

Notch signaling is an essential conserved mechanism through local cell interactions. It regulates cell differentiation, proliferation, and apoptotic, influencing organ formation and morphogenesis. Notch signaling plays a vital role in both development of melanocyte during embryogenesis and maintenance of melanocyte stem cells. POFUT1, POGLUT1, ADAM10, presenilin enhancer-2, and nicastrin genes are pathogenic genes of genetic reticular pigmentation diseases Dowling-Degos disease, reticulate acropigmentation of Kitamura, and acne inversa with pigment abnormalities separately. And they are all vital genes in Notch signaling pathway. This group of pigmentary diseases have similarities and overlaps in clinical manifestations and pathological characteristics. We review the essential role of Notch signaling in genetic reticular pigmentary disorders, and discuss the underlying mechanisms behind dysfunction of melanocyte induced by gene mutations in Notch signaling.

show abstract

“…Drei von vier Major-Kriterien müssen zur Diagnose einer RPD erfüllt sein [2]. Zwischenzeitlich wurden bereits vielfache Berichte zu klinischen Überlappungen zwischen den verschiedenen Entitäten beschrieben; mehrheitlich überlappen Kriterien des RKD mit dem DDD oder RAD [5,8]. Die klinischen Differenzialdiagnosen erworbener Hyperpigmentierungen der Haut sind vielfältig.…”

Section: Retikuläre Pigmentdermatosenunclassified

Erworbene retikuläre Pigmentdermatosen

Müller¹,

Vogt²

2019

Akt Dermatol

View full text Add to dashboard Cite

Clinical differential diagnoses of acquired hyperpigmentation of the skin are manifold. The rarity and fuzzy demarcation between various entities on the one hand and the alleged insignificance and harmlessness of the dermatoses on the other hand often delay a rapid diagnosis in everyday clinical practice. In the present work the most important clinical differential diagnoses are reviewed. Acquired reticular pigment dermatoses (RPD) of the skin sui generis include Dowling-Degos disease (DDD), Galli-Galli disease (GGD). Further diseases rarely found in Europe are Kitamura disease (RKD), reticular acropigmentation Dohi (RAD) and Haber syndrome (HS). Other acquired more frequent hyperpigmentation of the skin, which may also have a reticular pattern, include acanthosis nigricans, papillomatosis confluens et reticularis Gougerot carteaud, diabetic dermatopathy, and postinflammatory hyperpigmentation. Some of these diseases are particularly indicative of endocrinopathies. In particular, childhood acanthosis nigricans is of great importance in diabetes mellitus screening. Histopathological examination with the clinical problem of acquired hyperpigmentation can be difficult and requires close clinical-pathological correlation.

show abstract

Coexistence of reticulate acropigmentation of Kitamura and Dowling-Degos disease

Cited by 6 publications

References 8 publications

KRT5 mutation regulate melanin metabolism through notch signalling pathway between keratinocytes and melanocytes

KRT5 mutation regulate melanin metabolism through notch signalling pathway between keratinocytes and melanocytes

The Role of Notch Signaling in Genetic Reticular Pigmentary Disorders

Erworbene retikuläre Pigmentdermatosen

Contact Info

Product

Resources

About