Results 81 to 90 of about 8,647 (203)

Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein‐1 mutation: A case report

Clinical Case Reports
Key Clinical Message Keratosis palmoplantaris striata type I (SPPK‐I) is a rare autosomal‐dominant type of hereditary epidermolytic palmoplantar keratoderma, which can be caused by mutations in desmoglein‐1 (DSG‐1).
Kevin Koschitzki, Bernadett Kurz, Julia Schreml, Judith Fischer, Alrun Hotz, Christoph M. Hammers, Mark Berneburg, Dennis Niebel, Stephan Schreml   +8 more
doaj   +1 more source

Acroqueratoelastoidosis de Costa: reporte de un caso esporádico

Medicina U.P.B., 2019
La acroqueratoelastoidosis de Costa es una rara genodermatosis autosómica dominante con expresividad variable, que se caracteriza por la presencia de múltiples pápulas hiperqueratósicas en la zona marginal de las manos, los pies o ambas.
Lina María Muñoz Ochoa, Melissa María Velilla Contreras, Jaime Ávila Cárdenas, José Manuel Ríos-Yuil   +3 more
doaj   +1 more source

Connexins and gap junctions in the inner ear - it's not just about K(+) recycling [PDF]

, 2014
Normal development, function and repair of the sensory epithelia in the inner ear are all dependent on gap junctional intercellular communication.
Forge, A, Jagger, DJ
core   +2 more sources

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

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, Richard M. Haber, Janan Mohamad, Ofer Sarig, Eli Sprecher, Renée Perrier, Dana Boctor, Michele Ramien   +7 more
wiley   +1 more source

Punctate Palmoplantar Keratoderma: A Case Report of Type 1 (Buschke-Fischer-Brauer Disease)

Case Reports in Dermatology, 2019
Punctate palmoplantar keratoderma is a rare hereditary palmoplantar keratoderma. Herein we report a 59-year-old male, otherwise healthy, who presented with a 25-year history of asymptomatic persistent slowly progressing skin lesions on both hands.
Rahaf Bukhari, Waseem Alhawsawi, Aisha Ahmad Radin, Hawazin D. Jan, Khalid Al Hawsawi, Marwan Al Ahmadi   +5 more
doaj   +1 more source

Olmsted Syndrome: A Case Report of Two Brothers

Indian Journal of Paediatric Dermatology
Olmsted syndrome is a rare disease characterized by severe mutilating transgradient keratoderma with prominent periorificial hyperkeratosis. A total of 73 cases have been reported worldwide.
Surendra Singh Bhati, Anmol Bhargava, Pramey Deshpande, Swati Sahu   +3 more
doaj   +1 more source

Christ–Siemens–Touraine syndrome with palmoplantar keratoderma: A rare association

Indian Dermatology Online Journal, 2016
Christ–Siemens–Touraine syndrome is a form of anhidrotic ectodermal dysplasia (ED) characterized by triad of hypodontia, hypotrichosis, and hypohidrosis. Palmoplantar keratoderma is a characteristic feature of hidrotic forms of ED.
Sunil K Kothiwala, Mahesh Prajapat, C M Kuldeep   +2 more
doaj   +1 more source

Severe hereditary punctate palmoplantar keratoderma (Brauer-Buschke-Fischer syndrome)

Przegląd Dermatologiczny, 2015
Introduction. Keratoderma of the hands and feet is a chronic disorder of epidermal keratinization, which consists of many various forms. Objective. To present a case of a 54-year-old woman with severe hereditary punctate palmoplantar keratoderma.
Dorota Jaśkiewicz-Nyckowska, Aneta Szczerkowska-Dobosz, Marta Stawczyk-Macieja, Maria Czubek   +3 more
doaj   +1 more source

Keratoderma blenorrhagica [PDF]

BMJ Case Reports, 2013
Urmila, Dhakad, Siddharth K, Das, Puneet, Kumar   +2 more
openaire   +2 more sources

Compound heterozygous dominant and recessive GJB2 mutations cause deafness with palmoplantar keratoderma

Acta Oto-Laryngologica Case Reports, 2017
GJB2 gene mutation is the most common cause of congenital sensorineural hearing loss worldwide. Most GJB2 gene mutations have been associated with autosomal recessive non-syndromic hearing loss (DFNB1), but some are also associated with autosomal ...
Yasuhiro Arai, Masahiro Takahashi, Naoko Sakuma, Shin-Ya Nisio, Nobuhiko Oridate, Shin-Ichi Usami   +5 more
doaj   +1 more source