Plantar keratoderma of Sézary syndrome [PDF]
Sézary syndrome is an extremely rare form of cutaneous T-cell lymphoma. It presents suddenly and is associated with a poor prognosis. Clinical recognition is crucial for the diagnostic process and initiation of appropriate treatment.
Fragkos, KC
core +1 more source
Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations
ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley +1 more source
Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity [PDF]
Heritable forms of ichthyoses, also referred to as generalized Mendelian disorders of cornification, are phenotypically a highly heterogeneous group of conditions caused by mutations in a number of genes playing a role in keratinocyte differentiation ...
Abiri, Maryam +12 more
core +1 more source
Delayed Diagnosis of Sézary Syndrome: Lessons From a Psoriasiform Presentation
ABSTRACT Pruritic erythroderma is not always psoriasis. Resistant cases require a broad evaluation for cutaneous lymphoma. Early, timely diagnosis prevents disease progression, improves outcomes, and enhances quality of life, highlighting the need for re‐evaluation when conventional treatments fail.
Sudhan Neupane +3 more
wiley +1 more source
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
An analysis of oral biopsies extracted from 1995 to 2009, in an oral medicine and surgery unit in Galicia (Spain) [PDF]
Objective: To conduct an analysis of the frequency of oral lesions in biopsies over a 14-year period in the Oral Medicine, Oral Surgery and Implantology Unit.
Diniz Freitas, Márcio +4 more
core +1 more source
Efficacy of Apremilast in Refractory Genital Psoriasis: A Retrospective Case Series
ABSTRACT Background Genital pustular psoriasis is a rare and often underdiagnosed condition that can severely affect physical comfort, quality of life and psychological well‐being. It can be particularly challenging to manage, often requiring systemic therapies due to its potential unresponsiveness to conventional topical treatment.
Jonathan Krygier +2 more
wiley +1 more source
Keratitis-ichthyosis-deafness syndrome, atypical connexin GJB2 genemutation, and peripheral T-cell lymphoma: more than a random association? [PDF]
Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by a variety of skin lesions— that is, palmoplantar keratoderma, thickening of the skin, and erythematous verrucous lesions—neurosensorial hypoacusia, and keratitis
Contini, Salvatore +6 more
core +3 more sources
Palmoplantar keratoderma of Sybert
A 13-year-old boy and a 7-year-old boy, who are brothers, presented with a life-long history of erythema, hyperkeratosis, and desquamation of the hands and feet. Symptoms improved with the use of topical glucocorticoids and keratolytics. PPK of Sybert is characterized by palmoplantar hyperkeratosis with transgrediens, autosomal dominant inheritance ...
Leonard, Aimee L, MD +1 more
openaire +4 more sources
ABSTRACT Mycosis fungoides is a cutaneous T‐cell lymphoma with a classically relatively good prognosis, mostly diagnosed in men over the age of 50. It classically manifests as erythematosquamous plaques, but can take a variety of forms. Here we describe four cases of mycosis fungoides diagnosed in children, with psoriasiform palmoplantar keratoderma as
S. Grandjacquot +7 more
wiley +1 more source

