Clinical periodontal diagnosis
Periodontology 2000, EarlyView., 2023 Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi +5 more
wiley +1 more source
Coexistence of acrokeratoelastoidosis and knuckle pad‐like lesions
JEADV Clinical Practice, 2022 Acrokeratoelastoidosis (AKE) is a marginal papular keratoderma. It is a rare autosomal dominant condition that may also present in childhood or adulthood in sporadic cases.
Alba Navarro‐Bielsa +4 more
doaj +1 more source
The molecular genetic analysis of the expanding pachyonychia congenita case collection [PDF]
, 2014 BACKGROUND: Pachyonychia congenita (PC) is a rare autosomal dominant keratinizing disorder characterized by severe, painful, palmoplantar keratoderma and nail dystrophy, often accompanied by oral leucokeratosis, cysts and follicular keratosis.
Al-Asadi, E. +9 more
core +3 more sources
Palmoplantar lesions of lichen planus
Indian Journal of Dermatology, 2018 Introduction: Palmoplantar lesions of lichen planus (LP) are uncommon and may not always have classical clinical features of LP. A variety of morphological types has been described in literature.
Surabhi Sinha +2 more
doaj +1 more source
Diagnosis and Management of Inherited Palmoplantar Keratodermas
Acta Dermato-Venereologica, 2020 Inherited monogenic palmoplantar keratodermas are a heterogeneous group of conditions characterised by persistent epidermal thickening of the palmoplantar skin.
Bjorn R. Thomas, Edel A. O'Toole
doaj +1 more source
Severe osteoarticular involvement in isotretinoin-triggered acne fulminans: two cases successfully treated with anakinra. [PDF]
, 2017 Acne fulminans (AF) is a severe form of inflammatory and ulcerated acne associated with fever, malaise, joint swellings and polyarthralgia.1 Osteoarticular lesions are often described and can be radiologically indistinguishable from those observed in
Barbareschi +9 more
core +1 more source
Clathrin Adaptor Complex-interacting Protein Irc6 Functions through the Conserved C-Terminal Domain. [PDF]
, 2019 Clathrin coats drive transport vesicle formation from the plasma membrane and in pathways between the trans-Golgi network (TGN) and endosomes. Clathrin adaptors play central roles orchestrating assembly of clathrin coats.
Costaguta, Giancarlo +2 more
core +2 more sources
Cowden syndrome - Diagnostic skin signs [PDF]
, 2001 Cowden syndrome is a rare autosomal dominant familial cancer syndrome with a high risk of breast cancer. The most important clinical features include carcinomas of the breast and thyroid, and hamartomatous polyps of the gastrointestinal tract.
Burgdorf, Walter H. C. +2 more
core +1 more source
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 +2 more sources
Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity [PDF]
, 2017 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