Results 61 to 70 of about 8,727 (222)
Indian Dermatology Online Journal, 2017 We report a case of mutilating keratoderma with alopecia and keratoses follicularis spinulosa decalvans (KFSD), which was initially diagnosed as ectodermal dysplasia and Olmsted syndrome but was revisited as a case of X-linked Olmsted (XLO) syndrome.
Gunjan Verma, Kabir Sardana, R K Gautam
doaj +1 more source
Adult-onset porokeratotic eccrine ostial and dermal duct nevus:dermatoscopic findings and treatment with tazarotene [PDF]
, 2020 Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare dermatosis initially described as ‘comedo nevus’ and renamed ‘PEODDN’; it has also been referred to as linear eccrine nevus with comedones, porokeratotic eccrine ostial and hair ...
Alomran, Husain, Kanitakis, Jean
core
Papillon Lefevre syndrome: bridge between Dermatologist and Dentist [PDF]
, 2010 Papillon-Lefevre syndrome is a rare autosomal recessively inherited condition which shows features common to both dentistry and dermatology. This disease is characterized by palmoplantar hyperkeratosis and severe periodon- titis.
Brar, Rajdeep +3 more
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Pediatric Dermatology, Volume 43, Issue 2, Page 444-447, March/April 2026.ABSTRACT Erythrokeratodermia cardiomyopathy (EKC) syndrome is a rare autosomal dominant disorder characterized by generalized erythrokeratoderma and progressive dilated cardiomyopathy, caused by pathogenic variants in the SR6 domain of desmoplakin (DSP).
Sepideh Hamzehlou +7 more
wiley +1 more source
Analysis of CARD14 Polymorphisms in Pityriasis Rubra Pilaris: Activation of NF-κB. [PDF]
, 2015 Pityriasis rubra pilaris (PRP) is a rare inflammatory papulo-squamous disorder manifesting with palmoplantar keratoderma and follicular hyperkeratotic papules which tend to coalesce into large, scaly, erythematous plaques often progressing to exfoliative
Andrews, Jonathan +9 more
core +5 more sources
Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein‐1 mutation: A case report
Clinical Case ReportsKey Clinical Message Keratosis palmoplantaris striata type I (SPPK‐I) is a rare autosomal‐dominant type of hereditary epidermolytic palmoplantar keratoderma, which can be caused by mutations in desmoglein‐1 (DSG‐1).
Kevin Koschitzki +8 more
doaj +1 more source
Olmsted syndrome with lateral supraciliary madarosis and clubbing: A rare case report
Indian Dermatology Online Journal, 2018 Olmsted syndrome (OS) is a rare congenital, mutilating palmoplantar keratoderma first described by Olmsted in 1927. It starts in the neonatal period or in childhood, and has a slow but progressive disabling course. We report the case of a 16-year-old boy
Md Zeeshan +2 more
doaj +1 more source
Role of genetic aspect in pathogenesis of atopic dermatitis [PDF]
, 2013 The pathogenesis of atopic dermatitis (AD) is a very complicated process that involves an intricate array of molecules. Nowadays it is generally accepted that cytokines play an important role in the progression of the clinical presentation of atopic ...
Wesserling Martyna
core +2 more sources
American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 407-418, February 2026.ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen +10 more
wiley +1 more source
Anais Brasileiros de Dermatologia, 2002 As queratodermias palmo-plantares familiares são doenças pouco comuns. As manifestações clínicas são variadas e exuberantes, atraindo a atenção dos dermatologistas.
Alexandre Bortoli Machado +4 more
doaj +1 more source