Unique autosomal recessive variant of palmoplantar keratoderma associated with hearing loss not caused by known mutations [PDF]
Anais Brasileiros de Dermatologia, 2017 Inherited Palmoplantar Keratodermas are rare disorders of genodermatosis that are conventionally regarded as autosomal dominant in inheritance with extensive clinical and genetic heterogeneity.
Moustafa Abdelaal Hegazi +3 more
doaj +4 more sources
Aquagenic Palmoplanta keratoderma: Response to Topical Pimecrolimus and Literature Review [PDF]
Clinical, Cosmetic and Investigational DermatologyJinpeng Shan, Rukang Chen Department of Dermatology, The Second Affiliated Hospital of Zhejiang Chinese Medical University, Hangzhou, Zhejiang, 310005, People’s Republic of ChinaCorrespondence: Rukang Chen, Department of Dermatology, The Second ...
Shan J, Chen R
doaj +2 more sources
Molecular insights into nagashima-type palmoplantar keratoderma: SERPINB7 mutation spectrum and mechanistic perspectives [PDF]
Frontiers in Molecular BiosciencesNagashima-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
Dupilumab treatment for Chinese Nagashima-type palmoplantar keratoderma associated with atopic dermatitis: a case report [PDF]
Frontiers in ImmunologyPatients with Nagashima-type palmoplantar keratoderma (NPPK) experience progressive, painful hyperkeratosis and fissuring of palms and soles that limits daily activities Due to the incomplete understanding of its pathogenesis, there are currently no ...
Chunting Hua, Hao Cheng, Xianzhen Chen
doaj +2 more sources
Atypical Presentation of Papillon–Lefèvre Syndrome: A Case of Isolated Cutaneous Manifestations Without Dental Involvement [PDF]
ReportsBackground and Clinical Significance: Papillon–Lefèvre syndrome (PLS) is an autosomal recessive genetic skin disorder. Genetic studies have demonstrated that mutations in the Cathepsin-C (CTSC) gene, mapped to chromosome 11q14.1–q14.3, are responsible ...
Mishari Alrubaiaan +2 more
doaj +2 more sources
Annular epidermolytic ichthyosis: a case report and literature review, [PDF]
Anais Brasileiros de Dermatologia, 2020 Annular epidermolytic ichthyosis is a rare subtype of epidermolytic ichthyosis that is characterized by erythematous, polycyclic, and migratory scaly plaques accompanied by palmoplantar keratoderma. This report presents the case of an 8-year-old girl who
Emanuella Stella Mikilita +3 more
doaj +2 more sources
Palmoplantar keratoderma, pseudo-ainhum and knuckle pads in an African patient: A case report
SAGE Open Medical Case Reports, 2023 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
Punctate Palmoplantar Keratoderma
Gazeta Médica, 2021 A 5-year-old caucasian boy, born of non-consanguineous parents, was referred to the dermatology department due to palmar hiperlinearity and multiple 2-3 mm hyperkeratotic circular lesions in the soles (Fig. 1).
Susana Cláudia Teixeira +3 more
doaj +3 more sources
Palmoplantar keratoderma with keratoconus
Middle East African Journal of Ophthalmology, 2018 Palmoplantar keratodermas (PPKs) are a rare heterogeneous group of disorders characterized by abnormal thickening of the skin of palms and soles. Ocular manifestations reported with palmer planter keratosis include scleral melanosis, macular deposits, and congenital cataract.
Gupta, Ved Prakash, Chaudhari, Isha
openaire +3 more sources
Mal de Meleda with lip involvement: A report of two cases
Indian Journal of Dermatology, 2012 Mal de Meleda is a rare autosomal recessive transgradient palmoplantar keratoderma characterized by transgradient keratoderma with associated scleroatrophy, nail changes, pseudoainhum around digits and perioral erythema, without a tendency for ...
Amiya Kumar Nath +2 more
doaj +1 more source