Results 71 to 80 of about 14,871 (251)

Keratosis follicularis

open access: yesDermatology Online Journal, 2003
Keratosis follicularis is a genetic disorder that is inherited in an autosomal dominant pattern. Physical examination classically shows keratotic papules that are distributed mostly on the so-called "seborrheic" areas of the body. Nail involvement is not uncommon and is characterized by V-shaped nicking at the distal aspect of the nail bed ...
openaire   +4 more sources

Treatment modalities for hyperpigmented skin lesions: A brief overview [PDF]

open access: yes, 2016
Skin hyperpigmentation involves a broad range of skin conditions, including epidermal pigmented lesions, dermal pigmented lesions, and mixed pigmented lesions.
Halim, Ahmad Sukari, Yan, Teng Khoo
core   +2 more sources

Guttate leukoderma and acrokeratosis verruciformis of Hopf: a rare combination in Darier disease [PDF]

open access: yes, 2020
A distinct Darier phenotype presenting with confetti-like hypopigmented macules was first described in 1965. Designated as "guttate leukoderma," this skin finding is a rarely-reported presentation of Darier disease.
Grossman, Shoshana K   +4 more
core  

Cicatricial Alopecias [PDF]

open access: yes, 2017
Primary cicatricial alopecias (PCA) are a rare group of disorders in which the hair follicle is the main target of destructive inflammation resulting in irreversible hair loss with scarring of affected lesions.
Bilgili, Serap Gunes   +2 more
core   +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

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

Darier's disease and Schizophrenia- A case report [PDF]

open access: yes, 2021
Darier's disease is a rare autosomal dominant genodermatosis. There is a specific mutation in the ATP2A2 gene on chromosome 12q. Several neuropsychiatric manifestations have been described in association with Darier's disease.
Babu Kiran, Rahul Thovarayi, V Nair Indu
core   +2 more sources

Cutaneous dirt-adherent disease complicated with Darier’s disease, schizophrenia, and cutis verticis gyrata: A case report

open access: yesFrontiers in Medicine, 2022
The patient was a 25-year-old man presented with cutaneous dirt-adherent disease with a past medical history of schizophrenia. Both the patient and his mother had Darier’s disease, genetic screening revealed that the patient carried a heterozygous ...
Qing Zhu   +4 more
doaj   +1 more source

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