Results 81 to 90 of about 282,297 (205)
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
Papillon–Lefèvre syndrome: clinical presentation and management options
Basapogu Sreeramulu,1 Naragani DVN Shyam,2 Pilla Ajay,1 Pathipaka Suman1 1Department of Prosthodontics, 2Department of Oral Pathology, Government Dental College and Hospital, Hyderabad, Telangana State, India Abstract: Papillon–Lefèvre ...
Sreeramulu B +3 more
doaj
Neonatal Epidermolytic Ichthyosis Caused by a KRT10 Mutation (c.467G>A, p.Arg156His): A Case Report
ABSTRACT We present a neonatal case of skin blisters and erythema. While epidermolysis bullosa was initially suspected, immunofluorescence antigen mapping and genetic testing confirmed epidermolytic ichthyosis, with a heterozygous pathogenic variant in the KRT10 gene (c.467G>A, p.Arg156His).
Elke Smits +4 more
wiley +1 more source
A Case Report of Keratoderma and Bilateral Deafness
Introduction: Various inherited or acquired disorders are characterized by palmoplantar kera-toderma hyperkeratosis of hands and feet, and when accompanied with deafness indicates mutations in the gene encoding connexin -26 or a particular mutation ...
Gholamreza Eshghi +2 more
doaj
BackgroundSLURP1 is the causal gene for Mal de Meleda (MDM), an autosomal recessive skin disorder characterized by diffuse palmoplantar keratoderma and transgressive keratosis.
Yasuhiro Moriwaki +9 more
doaj +1 more source
Epidermal Nevi and Epidermal Naevus Syndromes
ABSTRACT Epidermal nevi (EN) arise from postzygotic variants in ectoderm‐derived cell lines, such as keratinocytes and cells forming adnexa. EN may be present alone without any associated abnormality or be part of a syndrome. In this review, we will discuss about the clinical and genetics of the main types of EN and related syndromes.
Gianluca Tadini +2 more
wiley +1 more source
Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype
Bothnian palmoplantar keratoderma (PPKB, MIM600231) is an autosomal dominant form of diffuse non-epidermolytic PPK characterized by spontaneous yellowish-white PPK associated with a spongy appearance after water-immersion.
Laura Fertitta +17 more
core +1 more source
Diffuse non-epidermolytic Palmoplantar Keratoderma [PDF]
Anupam, Das +2 more
openaire +2 more sources
PALMOPLANTAR KERATODERMA WITH SCLERODACTYLY (HURIEZ SYNDROME)
A syndrome characterized by palmoplantar keratoderma, sclerodactyly, and skin cancer was first described in two families by Huriez et al. The pattern of inheritance was compatible with that of an autosomal dominant disorder. We report a patient with this
PATRONE, Pasquale, PATRIZI A, DILERNIA V
core +1 more source
Síndrome tilose hereditária e câncer de esôfago Hereditary tylosis syndrome and esophagus cancer
A tilose palmo-plantar é um distúrbio autossômico dominante caracterizado por uma hiperceratose palmo-plantar. Em geral, desenvolve-se na segunda infância e se acentua em áreas de pressão.
Camila Alves de Souza +3 more
doaj +1 more source

