Results 51 to 60 of about 1,207 (150)
A novel AAGAB mutation in a Peruvian family with punctate palmoplantar keratoderma
Acta Dermatovenerologica Alpina Pannonica et Adriatica, 2021 Buschke-Fischer-Brauer (BFB) disease is a rare keratoderma characterized by multiple hyperkeratotic lesions on the palms and soles, with an autosomal dominant pattern. In several countries, some genetic alterations have been associated with this clinical entity.
Gómez-García, Ana C +5 more
openaire +2 more sources
Pachyonychia congenita: A rare genodermatosis
Indian Dermatology Online Journal, 2013 Pachyonychia congenita (PC) is a rare genodermatosis with only 450 cases reported since 1906. It is of two types, type I due to mutation in genes 6a and 16, and 6b and 17 in type II with an autosomal dominant inheritance in both types. A 22 yr old female
Puneet Agarwal +6 more
doaj +1 more source
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
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
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
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
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
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
Adult-onset porokeratotic eccrine ostial and dermal duct nevus:dermatoscopic findings and treatment with tazarotene [PDF]
, 2020 Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare dermatosis initially described as ‘comedo nevus’ and renamed ‘PEODDN’; it has also been referred to as linear eccrine nevus with comedones, porokeratotic eccrine ostial and hair ...
Alomran, Husain, Kanitakis, Jean
core