Results 51 to 60 of about 27,969 (160)

Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis and Knuckle Pads (PLACK) Syndrome: An Updated Review of Cases and Identification of a Recurrent CAST Variant in Two Patients

open access: yesPediatric 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

Primary digital clubbing associated with palmoplantar keratoderma.

open access: yes, 1997
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

open access: yesJournal of the Egyptian Women’s Dermatologic Society
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

open access: yesJEADV 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

Aquagenic (pseudo) keratoderma (aquagenic palmoplantar keratoderma, aquagenic wrinkling of palms)

open access: yes, 2021
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

open access: yesContact Dermatitis, Volume 92, Issue 6, Page 421-435, June 2025.
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_Figure_1_June_21_2019 – Supplemental material for AAGAB Mutations in 18 Canadian Families With Punctate Palmoplantar Keratoderma and a Possible Link to Cancer

open access: yes, 2019
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]

open access: yes, 2017
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

open access: yesInternational Journal of Dermatology, Volume 64, Issue 1, Page 62-71, January 2025.
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

open access: yesJournal of Dermatology Research
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

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