Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma
is missing (Short communication)
Liisa Harjama +12 more
doaj +7 more sources
Molecular insights into nagashima-type palmoplantar keratoderma: SERPINB7 mutation spectrum and mechanistic perspectives [PDF]
Nagashima-type palmoplantar keratoderma (NPPK) is a common inherited palmoplantar keratoderma predominantly affecting East Asian populations and caused by biallelic loss-of-function variants in the SERPINB7 gene.
Zhenzhen Xiao +3 more
doaj +2 more sources
Sporadic Diffuse Palmoplantar Keratoderma in a Pediatric Patient With Early Onset: A Case Report. [PDF]
Palmoplantar keratoderma (PPK) encompasses a heterogeneous group of disorders characterized by hyperkeratosis of palms and soles. Sporadic cases with early childhood onset but no family history represent a diagnostic challenge. In this report, we present a case of an eight-year-old male child who presented with progressive thickening of palmoplantar ...
Premkumar L +3 more
europepmc +3 more sources
Successful treatment of refractory classic juvenile pityriasis rubra pilaris with adalimumab in a 4-year-old girl: a case report [PDF]
BackgroundClassic juvenile pityriasis rubra pilaris (PRP) (Griffiths type III) is a rare inflammatory papulosquamous dermatosis that is often refractory to conventional topical and systemic treatments.
Jianlan Zhang +9 more
doaj +2 more sources
Paraneoplastic Papuloerythroderma of Ofuji Masquerading as Worsening Psoriasis [PDF]
Megan Hauptman,1 Nikhil Mehta,2 Frank Wang,1 Lori Lowe,1 Mio Nakamura1 1Department of Dermatology, University of Michigan, Ann Arbor, MI, USA; 2Department of Dermatology, Venereology, and Leprosy, All India Institute of Medical Sciences, New Delhi, Delhi,
Hauptman M +4 more
doaj +2 more sources
Second-line antitubercular therapy with ethionamide and pyrazinamide causing pellagroid dermatitis presenting as diffuse palmoplantar keratoderma [PDF]
Mahendra M. Kura, MD, DNB +2 more
doaj +3 more sources
Palmoplantar keratoderma, pseudo-ainhum and knuckle pads in an African patient: A case report
Hereditary palmoplantar keratoderma is a rare heterogenous group of genodermatoses characterised by hyperkeratosis of the palms and soles. Genetic alterations affecting proteins of the keratin cytoskeleton, cornified cell envelope, desmosomes and gap ...
Kellicia Courtney Govender +1 more
doaj +1 more source
Pachydermoperiostosis (PDP) is a rare genodermatosis with prominent cutaneous, soft tissue and skeletal manifestations. It can mimic secondary causes of hypertrophic osteoarthropathy such as thyroid acropachy.
Ajani AA +5 more
doaj +1 more source
Diffuse epidermolytic palmoplantar keratoderma (Unna-Thost-) [PDF]
We report the case of a 28-year-old man presenting to our hospital with refractory diffuse hyperkeratosis of palms and soles. He reported first appearance in early childhood. His first-born daughter also developed hyperkeratosis on palms and soles directly after birth. No other family member seems to be affected by similar skin lesions.
Louisa, Hinterberger +3 more
openaire +2 more sources
Vohwinkel syndrome: ichthyosiform variant in a family [PDF]
: Vohwinkel syndrome belongs to the group of hereditary palmoplantar keratoderma, having an autosomal dominant inheritance. In this report, the authors present a case of a four-year-old boy with diffuse scaling over his entire body and transgredient ...
Clarissa Prieto Herman Reinehr +2 more
doaj +1 more source

