Results 101 to 110 of about 14,748 (240)
Você conhece esta síndrome? Do you know this Syndrome?
Anais Brasileiros de Dermatologia, 2008 A síndrome de Papillon-Lefèvre ou queratodermia transgressiva com periodontopatia é genodermatose rara, com acometimento cutâneo e dentário. As alterações aparecem por volta do primeiro ano de vida, com queratodermia transgressiva palmoplantar associada ...
Flávia Regina Coeli +4 more
doaj +1 more source
Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan [PDF]
, 2019 Background Autosomal recessive congenital ichthyosis (ARCI) is a genetically and phenotypically heterogeneous skin disease, associated with defects in the skin permeability barrier. Several but not all genes with underlying mutations have been identified,
Ahmad, Jamil +16 more
core +4 more sources
Tofacitinib: A Promising Therapeutic Option for Refractory Pityriasis Rubra Pilaris—A Case Report
Clinical Case Reports, Volume 13, Issue 10, October 2025.ABSTRACT Pityriasis rubra pilaris (PRP) is a rare inflammatory skin disorder that can severely impact the quality of life in patients, particularly when presenting in chronic or refractory form. Emerging evidence suggests that JAK inhibitors may offer a potential treatment option.
Mahsa Taremi, Nikoo Mozafari
wiley +1 more source
Beneficial effect of ustekinumab in familial pityriasis rubra pilaris with a new missense mutation in CARD14 [PDF]
, 2018 Pityriasis rubra pilaris (PRP) represents a group of rare chronic inflammatory skin disorders in which ~1 in 20 affected individuals show autosomal dominant inheritance.
Hsu, C-K +3 more
core +1 more source
Molecular Genetics & Genomic Medicine, 2019 Epidermolytic palmoplantar keratoderma (EPPK) is characterized by hyperkeratotic lesions on palms and soles. The disorder is caused by mutations of keratin 9 (KRT9) or KRT1 gene.
Xiaoliang Liu +4 more
semanticscholar +1 more source
American Journal of Hematology, Volume 100, Issue 9, Page 1603-1628, September 2025.ABSTRACT Disease Overview Primary cutaneous lymphomas are a rare and heterogeneous group of extranodal lymphomas that require the integration of clinical and histopathologic data for classification and treatment. Diagnosis Diagnosis and disease classification is based on histopathologic review and immunohistochemical staining of an appropriate skin ...
Alexandra C. Hristov +2 more
wiley +1 more source
Indian Journal of Dermatology, 2002 Olmsted syndrome is a rare congential palmoplantar keratoderma with progressive periorificial hyperkeratotic lesions, alopecia areata, deafness, lental and nail changes. Only a few cases of this syndrome have been reported so far.
Mukhopadhyay Piyali +3 more
doaj
Manifestaciones cutáneas de las enfermedades de tiroides: Revisión [PDF]
, 2017 Los trastornos del tiroides son muy prevalentes en la práctica clínica. Un estudio epidemiológico europeo destaca que casi la mitad de los pacientes con enfermedad tiroidea permanecen sin diagnosticar.
Lucas San Atanasio, Delia de
core
Connexins and gap junctions in the inner ear - it's not just about K(+) recycling [PDF]
, 2014 Normal development, function and repair of the sensory epithelia in the inner ear are all dependent on gap junctional intercellular communication.
Forge, A, Jagger, DJ
core +2 more sources
Aquagenic keratoderma. Two new case reports and a new hypothesis
Indian Dermatology Online Journal, 2014 Aquagenic keratoderma has been described as a transient condition affecting predominantly young females and defined clinically by the appearance of palmar hyper-wrinkling accentuated after immersion in water.
Georgi Tchernev +4 more
doaj +1 more source