Results 51 to 60 of about 1,256 (158)
Spiny Keratoderma Palmar que precedeu o Diagnóstico de Micose Fungóide: Uma Nova Associação Paraneoplásica? [PDF]
, 2016 Spiny keratoderma is a rare dermatosis of unknown etiology that has been described with both hereditary and acquired variants. The acquired form has been associated with underlying malignancy and systemic diseases.
Leal Filipe, Paulo +2 more
core +2 more sources
AAGAB is an assembly chaperone regulating AP1 and AP2 clathrin adaptors [PDF]
, 2021 Multimeric cargo adaptors such as AP2 play central roles in intracellular membrane trafficking. We recently discovered that the assembly of the AP2 adaptor complex, a key player in clathrin-mediated endocytosis, is a highly organized process controlled ...
Crisman, Lauren +11 more
core +2 more sources
, 2023 [EN]The ichthyoses are a large, heterogeneous group of skin cornification disorders. They can be inherited or acquired, and result in defective keratinocyte differentiation and abnormal epidermal barrier formation.
Akiyama, Masashi +6 more
core +1 more source
Hereditary punctate palmoplantar keratoderma--a clinical study.
Indian journal of dermatology, venereology and leprology, 2007 28 patients of hereditary punctate palmoplantar keratoderma (HPPK) were selected from DermatoVenereology out patients of Rajindra Hospital, Patiala. Cases were divided into group A with PPK as major feature and group 6 with PPK as minor feature. 11/28 belonged to group A and 17/28 to group B.
R R, Mittal, A, Jha
openaire +2 more sources
Identification of a Locus for Punctate Palmoplantar Keratodermas at Chromosome 8q24.13–8q24.21 [PDF]
Journal of Investigative Dermatology, 2004 Punctate palmoplantar keratodermas (PPK) is a rare autosomal dominant cutaneous disorder characterized by numerous hyperkeratotic papules that are irregularly distributed on the palms and soles. The genetic basis for this disease is unknown. We performed a genome-wide search in two Chinese families with punctate PPK to map the chromosome location of ...
Zhang, Xue-Jun +13 more
openaire +2 more sources
Pain mechanisms in hereditary palmoplantar keratodermas [PDF]
, 2020 Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/154478/1/bjd17880_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/154478/2/bjd17880 ...
Caterina, M.J. +3 more
core +1 more source
American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero +17 more
wiley +1 more source
Pediatric Dermatology, Volume 42, Issue 6, Page 1239-1247, November/December 2025.ABSTRACT Peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK) syndrome (OMIM616295) is an exceptionally rare autosomal recessive genodermatosis caused by loss‐of‐function pathogenic variants in the CAST gene, encoding calpastatin.
Fiona Haxho +7 more
wiley +1 more source
Dermatoscopic Findings in Palmoplantar Dermatoses [PDF]
, 2021 Dermatoscopy is a useful, non-invasive method in the diagnosis of various dermatological diseases. Dermatoscopy of non-pigmented skin lesions shows additional morphologic features, such as cutaneous vascular pattern, scale color and scale distribution ...
Ermertcan, Aylin Türel +2 more
core +2 more sources
Epidermal Nevi and Epidermal Naevus Syndromes
JEADV Clinical Practice, Volume 4, Issue 3, Page 669-680, August 2025.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