Results 51 to 60 of about 829 (188)
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
Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2 [PDF]
Ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome (OMIM 308205) is a rare X-linked genetic disorder. Mutations in MBTPS2 underlie IFAP syndrome, with 19 different mutations reported to date.
Fong, K. +6 more
core +1 more source
Caso para diagnóstico Case for diagnosis
Eritromelanose folicular faciei et colli é uma doença rara, de origem desconhecida, caracterizada por hiperpigmentação eritêmato-acastanhada e simétrica nas regiões frontal, temporal e malar, associada com envolvimento do folículo piloso.
Roberto Souto da Silva +2 more
doaj +1 more source
Mapping the Research of Plasma in Dermatology by Bibliometric Approach
Background Plasma applications can lead to effective therapy for numerous skin diseases. We aim to systematically review the available data and map the plasma medicine in dermatology. Methods Publications relevant to plasma medicine in dermatology, published from 1996 to 2024, were retrieved from the Science Citation Index‐Expanded of the Web of ...
Jintong Wu +6 more
wiley +1 more source
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS - A FAMILY STUDY OF 7 MALE CASES AND 6 FEMALE CARRIERS [PDF]
Keratosis follicularis spinulosa decalvans (KFSD) is a rare X linked disease which is characterised by follicular hyperkeratosis of the skin and corneal dystrophy. Seven male patients and six female carriers are described. Special attention has been paid
ORANJE, AP +3 more
core +2 more sources
The association between Darier’s disease and schizophrenia : a case report
Introduction Darier’s disease, also known as Darier-White disease or keratosis follicularis, is a rare autosomal dominant genodermatosis. Clinical experience has long suggested an association between neuropsychiatric abnormalities and Darier’s disease ...
M. Abdelkefi +5 more
doaj +1 more source
Darier disease: Current insights and challenges in pathogenesis and management
Darier disease (DD) is characterized by the following: Disrupted Ca2+ gradients, impaired desmosomes, impaired keratinocyte differentiation, type 17 inflammation, DC and LC ↓, Th17 cells ↑. DD treatment: First line: keratinocyte focused and/or anti‐inflammatory. Second line: experimental approaches like specific targeting of the inflammatory infiltrate.
Monika Ettinger +8 more
wiley +1 more source
Monkeypox: Prevention Strategies and Challenges: Updated Review
ABSTRACT Background and Aims The mpox virus, sometimes known as MPXV, is the cause of the disease mpox. The Monkeypox virus is a different Poxviridae family member from the orthopoxvirus (OPXV) group. Clades I and II are the two varieties of the Monkeypox virus.
Abate Wondesen Tsige +1 more
wiley +1 more source
Basal Cell Carcinoma in Type 2 Segmental Darier's Disease
Background. Darier's disease (DD), also known as Keratosis Follicularis or Darier-White disease, is a rare disorder of keratinization. DD can present as a generalized autosomal dominant condition as well as a localized or segmental postzygotic condition (
Lynne Robertson, Maxwell B. Sauder
doaj +1 more source
Bachmann–Bupp syndrome and treatment
Bachmann‐Bupp Syndrome (BABS) is a new ODC1‐linked gain‐of‐function genetic disorder that is treatable with ODC inhibitor DFMO. BABS is an ultra‐rare disorder with major symptoms that include neurodevelopmental delay, hypotonia, and varying forms of non‐congenital alopecia.
André S. Bachmann +4 more
wiley +1 more source

