Novel POFUT 1 mutation associated with hidradenitis suppurativa–Dowling–Degos disease firm up a role for Notch signalling in the pathogenesis of this disorder: reply from the authors

2018 ◽  
Vol 178 (4) ◽  
pp. 986-986 ◽  
Author(s):  
M. Pavlovsky ◽  
O. Sarig ◽  
M. Eskin‐Schwartz ◽  
A. Hafner ◽  
E. Sprecher
Keyword(s):  
Hidradenitis Suppurativa ◽  
Notch Signalling ◽  
Degos Disease

Novel POFUT 1 mutation associated with hidradenitis suppurativa–Dowling–Degos disease firm up a role for Notch signalling in the pathogenesis of this disorder

2018 ◽  
Vol 178 (4) ◽  
pp. 984-986 ◽  
Author(s):  
I. González‐Villanueva ◽  
M. Gutiérrez ◽  
P. Hispán ◽  
I. Betlloch ◽  
J.C. Pascual
Keyword(s):  
Hidradenitis Suppurativa ◽  
Notch Signalling ◽  
Degos Disease

A novel mutation in POFUT1 gene associated with Dowling–Degos disease and hidradenitis suppurativa

2020 ◽  
Vol 60 (1) ◽  
Author(s):  
Miguel Fernando García‐Gil ◽  
Juan Monte Serrano ◽  
Mar Ramirez‐Lluch ◽  
Alberto Valero Torres ◽  
María Teresa López‐Giménez ◽  
...  
Keyword(s):  
Hidradenitis Suppurativa ◽  
Novel Mutation ◽  
Degos Disease

A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN

2017 ◽  
Vol 178 (2) ◽  
pp. 502-508 ◽  
Author(s):  
M. Pavlovsky ◽  
O. Sarig ◽  
M. Eskin-Schwartz ◽  
N. Malchin ◽  
R. Bochner ◽  
...  
Keyword(s):  
Hidradenitis Suppurativa ◽  
Founder Mutation ◽  
Degos Disease

scholarly journals Pleiotropic Role of Notch Signaling in Human Skin Diseases

2020 ◽  
Vol 21 (12) ◽  
pp. 4214 ◽  
Author(s):  
Rossella Gratton ◽  
Paola Maura Tricarico ◽  
Chiara Moltrasio ◽  
Ana Sofia Lima Estevão de Oliveira ◽  
Lucas Brandão ◽  
...  
Keyword(s):  
Notch Signaling ◽  
Human Skin ◽  
Hidradenitis Suppurativa ◽  
Target Genes ◽  
Skin Diseases ◽  
Current Knowledge ◽  
Cellular Mechanisms ◽  
Degos Disease ◽  
Cellular Pathways

Notch signaling orchestrates the regulation of cell proliferation, differentiation, migration and apoptosis of epidermal cells by strictly interacting with other cellular pathways. Any disruption of Notch signaling, either due to direct mutations or to an aberrant regulation of genes involved in the signaling route, might lead to both hyper- or hypo-activation of Notch signaling molecules and of target genes, ultimately inducing the onset of skin diseases. The mechanisms through which Notch contributes to the pathogenesis of skin diseases are multiple and still not fully understood. So far, Notch signaling alterations have been reported for five human skin diseases, suggesting the involvement of Notch in their pathogenesis: Hidradenitis Suppurativa, Dowling Degos Disease, Adams–Oliver Syndrome, Psoriasis and Atopic Dermatitis. In this review, we aim at describing the role of Notch signaling in the skin, particularly focusing on the principal consequences associated with its alterations in these five human skin diseases, in order to reorganize the current knowledge and to identify potential cellular mechanisms in common between these pathologies.

scholarly journals Novel nicastrin mutation in hidradenitis suppurativa–Dowling–Degos disease clinical phenotype: more than just clinical overlap?

2020 ◽  
Vol 183 (4) ◽  
pp. 758-759 ◽  
Author(s):  
S. Garcovich ◽  
P.M. Tricarico ◽  
C. Nait‐Meddour ◽  
G. Giovanardi ◽  
K. Peris ◽  
...  
Keyword(s):  
Hidradenitis Suppurativa ◽  
Clinical Phenotype ◽  
Degos Disease

scholarly journals Follicular Dowling-Degos Disease with Hidradenitis Suppurativa: A Case Report and Review of the Literature

2021 ◽  
pp. 530-536
Author(s):  
Ya-Nin Nokdhes ◽  
Thanachat Rutnumnoi ◽  
Poramin Patthamalai ◽  
Charussri Leeyaphan
Keyword(s):  
Hidradenitis Suppurativa ◽  
Phenotypic Expression ◽  
Punch Biopsy ◽  
Autosomal Dominant Disorder ◽  
Genetic Studies ◽  
Clinical Criteria ◽  
Essentially Normal ◽  
Degos Disease ◽  
Interfollicular Epidermis ◽  
The Face

Dowling-Degos disease (DDD) is an autosomal dominant disorder with variable phenotypic expression. Classically, DDD is characterized by progressive reticulate hyperpigmentation on flexures with perioral pitted scars and comedone-like hyperkeratotic papules. Follicular DDD is a rare variant which was introduced by Singh et al. [<i>Indian J Dermatol Venereol Leprol</i>. 2013 Nov–Dec;79(6):802–4]. Follicular DDD differs from other variants because of its notable comedone-like hyperkeratotic hyperpigmented papules and a distinct histopathology which demonstrates pigmented filiform and branching rete pegs originating at the follicular infundibulum with many epidermal horn cysts while the interfollicular epidermis is essentially normal. Hereby, we present a case of follicular DDD with hidradenitis suppurativa (HS). A 37-year-old Thai man presented with slowly progressive hyperpigmented comedone-like papules on the face, neck, axillae, upper trunk, and buttocks with perioral pitted scars. Punch biopsy from a comedonal lesion on his back was consistent with follicular DDD. He also had recurrent painful nodules and abscess on the back, groin, and buttock which matched the clinical criteria for the diagnosis of HS. To date, a paucity of concurrent DDD with HS has been reported. Recent genetic studies speculate a shared pathophysiologic mechanism of DDD and HS.

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