Results 51 to 60 of about 27,969 (160)
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
Primary digital clubbing associated with palmoplantar keratoderma.
The association of hereditary palmoplantar keratoderma and idiopathic clubbing of the digits in the same patient is uncommon. The differential diagnosis includes the Bureau-Barrière-Thomas syndrome, primary pachydermoperiostosis, Fischer's and Volavsek's
Barraud-Klenovsek MM, Burg G, Lübbe J
core +1 more source
Isolated plantar punctate porokeratosis: case report
Porokeratosis is a rare distinct acquired or congenital skin disease of unknown origin, characterized by abnormal keratinization. A rare form of porokeratosis known as punctate porokeratosis is distinguished by raised lesions on the palms and soles that ...
Enas A.S. Attia
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
Aquagenic (pseudo) keratoderma (aquagenic palmoplantar keratoderma, aquagenic wrinkling of palms)
Aquagenic palmoplantar keratoderma (APK) is an uncommon hereditary or sporadic condition that is characterized by edematous flat-topped papules appearing on palmar skin with wrinkling after brief water exposure.
Atzori L., Ferreli C., Rongioletti F.
core +1 more source
A Review of Hand Eczema Subtypes: Clinical Features, Biomarkers and Treatment Strategies
ABSTRACT Hand eczema is a common dermatological condition that significantly impairs quality of life. The classification of hand eczema has been considered an essential step for its management. The diagnosis of hand eczema relies on the aetiological and clinical features of hand lesions, a process complicated by the heterogeneous presentations and the ...
David Pesqué +5 more
wiley +1 more source
Supplemental material, Supplemental_Figure_1_June_21_2019 for AAGAB Mutations in 18 Canadian Families With Punctate Palmoplantar Keratoderma and a Possible Link to Cancer by Youssef Elhaji, Cherise Hedlin, Anu Nath, Emma L.
Youssef Elhaji (7399391) +6 more
core +1 more source
Disseminated punctate keratoderma: a rare case report and review of the literature [PDF]
We report a rare case of a 53-year-old womanpresenting with diffuse, late-onset disseminatedhyperkeratotic papules. Biopsy showed massivehyperkeratosis overlying a crateriform epidermaldepression and hypergranulosis with mild epidermalhyperplasia.
Asemota, Eseosa +3 more
core +1 more source
Porokeratoses: an update on pathogenesis and treatment
Abstract Porokeratoses (PK) are a group of uncommon dermatoses characterized by abnormal epidermal differentiation due to a disorder of the mevalonate metabolic pathway. Several clinical subtypes exist that can be associated with the same patient or affect different patients within a family and could, therefore, be different expressions of one disease.
Konstantinos‐Antonios Kostopoulos‐Kanitakis +1 more
wiley +1 more source
Punctate Palmoplantar Keratoderma: Case Report
Punctate Palmoplantar Keratoderma Type 1 (PPKP1) is a rare genetic disorder characterized by autosomal dominant inheritance, manifesting as punctate keratotic papules on the skin of the palms and soles. This report discusses a new case of this condition to underscore the rarity of this dermatosis.
Meryem Khalidi +7 more
openaire +1 more source

