Results 41 to 50 of about 829 (188)

A Rare Clinical Presentation of Intraoral Darier's Disease

open access: yesCase Reports in Pathology, 2011
Darier's disease, also known as keratosis follicularis or dyskeratosis follicularis, is a rare disorder of keratinization. It is an autosomal dominant genodermatosis with high penetrance and variable expressivity.
K. G. D. Manoja   +4 more
doaj   +1 more source

Darier′s disease - Oral, general and histopathological features in a 7 year old child

open access: yesJournal of Indian Society of Pedodontics and Preventive Dentistry, 2016
Darier′s disease, also known as keratosis follicularis, is a rare autosomal dominant genodermatosis, manifesting clinically as hyperkeratotic, firm papule that predominates in the seborrheic areas and flexures with accompanying nail abnormalities.
Sreedevi Dharman, Muthukrishnan Arvind
doaj   +1 more source

Erythromelanosis Follicularis Faciei: A Case Report and Review of the Literature

open access: yesCase Reports in Dermatology, 2015
Erythromelanosis follicularis faciei is a rare sporadic condition of unknown etiology characterized by reddish-brownish patches and follicular papules that appear commonly on the face and rarely on the neck.
Khalid Al Hawsawi   +4 more
doaj   +1 more source

Familial keratosis follicularis spinulosa decalvans associated with woolly hair [PDF]

open access: yes, 2007
Keratosis follicularis spinulosa decalvans (KFSD) is a rare inherited disorder of keratinization clinically characterized by diffuse follicular hyperkeratosis, progressive scarring alopecia of scalp, eyebrows and eyelashes, corneal dystrophy and ...
Giuseppe Micali   +4 more
core   +1 more source

Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta

open access: yesFrontiers in Endocrinology, 2023
Osteogenesis imperfecta (OI) is a heritable and chronically debilitating skeletal dysplasia. Patients with OI typically present with reduced bone mass, tendency for recurrent fractures, short stature and bowing deformities of the long bones.
Pei Jin Lim   +7 more
doaj   +1 more source

Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked MBTPS2 Osteogenesis Imperfecta

open access: yesFrontiers in Genetics, 2021
Osteogenesis imperfecta (OI) is an inherited skeletal dysplasia characterized by low bone density, bone fragility and recurrent fractures. The characterization of its heterogeneous genetic basis has allowed the identification of novel players in bone ...
Pei Jin Lim   +20 more
doaj   +1 more source

Erythromelanosis follicularis faciei et colli associated with keratosis pilaris in two brothers [PDF]

open access: yes, 2006
Erythromelanosis follicularis faciei et colli is characterized by well-demarcated erythema, hyperpigmentation, and follicular papules. Since the original description, it has seldom been reported in the literature.
Ermertcan A.T.   +4 more
core   +1 more source

Unilateral Darier’s disease – case report

open access: yesPrzegląd Dermatologiczny, 2017
Introduction . Darier’s disease (dyskeratosis follicularis, keratosis follicularis, Darier-White disease, Darier disease) is a rare genodermatosis inherited in autosomal dominant manner, caused by a mutation in the ATP2A2 gene located on chromosome 12 ...
Jolanta Węgłowska   +2 more
doaj   +1 more source

Darier's disease - response to oral Vitamin A: report of a case and brief review

open access: yesIndian Dermatology Online Journal, 2020
Darier's disease is an uncommon chronic dermatosis of autosomal dominant inheritance with significant psychosocial morbidity and shows unsatisfactory response to several topical and systemic therapies or various resurfacing or surgical procedure.
Megha Sondhi   +2 more
doaj   +1 more source

Oral Warty Dyskeratoma—A Systematic Review of the Literature

open access: yesDiagnostics, 2022
Objective: To systematically review the clinicopathological features of oral warty keratoma based on published literature. Materials and Methods: PubMed and Scopus databases were searched for reports of oral warty dyskeratoma.
A. Thirumal Raj   +4 more
doaj   +1 more source

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