List of works - Eli Sprecher

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

scientific article published on 18 September 2017

A treatment protocol for botulinum toxin injections in the treatment of pachyonychia congenita-associated keratoderma

scientific article published on 08 September 2019

A unique skin phenotype resulting from a large heterozygous deletion spanning six keratin genes

scientific article published in 2022

Efficacy of a combination of diluted calcium hydroxylapatite-based filler and an energy-based device for the treatment of facial atrophic acne scars

scientific article published on 29 March 2019

Identification of a recurrent mutation in ATP2C1 demonstrates that papular acantholytic dyskeratosis and Hailey-Hailey disease are allelic disorders

scientific article published on 12 August 2018

Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis

scientific article published on 27 April 2020

Novel POFUT1 mutation associated with hidradenitis suppurativa-Dowling Degos Disease firm up a role for Notch signalling in the pathogenesis of this disorder: reply from authors

scientific article published on 22 December 2017

PLACK syndrome shows remarkable phenotypic homogeneity

scientific article published on 17 January 2019

Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis

scientific article published on 02 July 2020

Punctate palmoplantar keratoderma: an unusual mutation causing an unusual phenotype.

scientific article published in March 2018

Recessive epidermolytic ichthyosis results from loss of keratin 10 expression, regardless of the mutation location.

scientific article published on 26 December 2017

SAM syndrome is characterized by extensive phenotypic heterogeneity.

scientific article

ST18 affects cell-cell adhesion in pemphigus vulgaris in a TNFα-dependent fashion

scientific article published on 18 November 2020

Striate palmoplantar keratoderma resulting from a missense mutation in DSG1.

scientific article

Symptomatic mucosal involvement in pachyonychia congenita: challenges in infants and young children

scientific article published on 25 December 2019

The combined effect of tranilast 8% liposomal gel on the final cosmesis of acne scarring in patients concomitantly treated by isotretinoin: prospective, double-blind, split-face study

scientific article published on 08 August 2019

Treatment of hereditary hypotrichosis simplex of the scalp with topical gentamicin

scientific article published on 20 November 2019

Updated S2K guidelines on the management of pemphigus vulgaris and foliaceus initiated by the european academy of dermatology and venereology (EADV)

scientific article published on 24 August 2020

List of works by Eli Sprecher