Results 1 to 10 of about 1,347 (192)

Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma

Acta Dermato-Venereologica, 2020
is missing (Short communication)
Liisa Harjama, Kaisa Kettunen, Outi Elomaa, Elisabet Einarsdottir, Hannele Heikkilä, Sirpa Kivirikko, Katriina Lappalainen, Janna Saarela, Caroline Alby, Annamari Ranki, Juha Kere, Smail Hadj-Rabia, Katariina Hannula-Jouppi   +12 more
doaj   +7 more sources

Plantar Lichen Planus [PDF]

Clin Case Rep
ABSTRACT Plantar Lichen Planus is a rare and often underrecognized variant of Lichen Planus that can mimic pityriasis rubra pilaris and psoriasis clinically. Accurate diagnosis relies on clinicopathological correlation, and a high index of suspicion is essential in atypical or treatment resistant plantar dermatoses for appropriate management.
Uprety S, Thapa P, Lamichhane P, Jaiswal S.   +3 more
europepmc   +2 more sources

Sporadic Diffuse Palmoplantar Keratoderma in a Pediatric Patient With Early Onset: A Case Report [PDF]

Cureus
Palmoplantar keratoderma (PPK) encompasses a heterogeneous group of disorders characterized by hyperkeratosis of palms and soles. Sporadic cases with early childhood onset but no family history represent a diagnostic challenge. In this report, we present a case of an eight-year-old male child who presented with progressive thickening of palmoplantar ...
Premkumar, Lathika, Preethi P, Sai, Swaminathan, Adikrishnan, Sundaram, Murugan   +3 more
openaire   +3 more sources

GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis. [PDF]

Anim Genet
Abstract Palmoplantar keratoderma in humans is a condition defined by an abnormally thickened cornified skin layer on the hands and feet. In animals, the corresponding disease is commonly termed paw pad hyperkeratosis. It can be acquired due to repeated trauma, infections, cancer, or inflammatory dermatoses, or inherited due to pathogenic variants in ...
Rietmann SJ, Malatos J, Jagannathan V, Leeb T.   +3 more
europepmc   +2 more sources

Buschke-Fischer-Brauer Keratoderma: A Case Report of a Rare Skin Disorder. [PDF]

Clin Case Rep
ABSTRACT Buschke–Fischer–Brauer keratoderma is a rare autosomal dominant disorder presenting as hyperkeratotic lesions on the palms and soles. Diagnosis requires clinical and histopathological evaluation. Management is symptomatic with keratolytics like salicylic acid and urea. Early recognition and ongoing care improve the quality of life for patients
Ahmad DS, Nasser R, Al-Janabi MH, Hassan F.   +3 more
europepmc   +2 more sources

Bi-Allelic DSG1 Splice-Site Variant Identified in a Family With Non-Syndromic Striate Palmoplantar Keratoderma. [PDF]

J Dermatol
ABSTRACT Hereditary palmoplantar keratoderma (PPK) involves hyperkeratosis of the palmoplantar skin and belongs to the palmoplantar epidermal differentiation disorders (pEDDs). One causal gene is Desmoglein 1 (DSG1), which encodes a protein crucial for epidermal integrity. Monoallelic DSG1 variants cause mild, non‐syndromic PPK, whereas bi‐allelic DSG1
Ahmed S, Cesarato N, Li Y, Xiong X, Ullah K, Khan H, Khan MJ, Thiele H, Ahmad W, Hasni MS, Betz RC.   +10 more
europepmc   +2 more sources

Generalized Papulosquamous Skin Eruption in a Teenager After COVID‐19 Booster [PDF]

Clin Case Rep
Generalized papulosquamous skin eruption following COVID‐19 booster administration. ABSTRACT Reports of pityriasis rubra pilaris (PRP) occurring after COVID‐19 vaccination continue to emerge, thus it is important to maintain a high index of suspicion for PRP in patients with new‐onset cutaneous symptoms postvaccination.
Lin A, Borda L, Marks K.
europepmc   +2 more sources

Delayed Diagnosis of Sézary Syndrome: Lessons From a Psoriasiform Presentation. [PDF]

Clin Case Rep
ABSTRACT Pruritic erythroderma is not always psoriasis. Resistant cases require a broad evaluation for cutaneous lymphoma. Early, timely diagnosis prevents disease progression, improves outcomes, and enhances quality of life, highlighting the need for re‐evaluation when conventional treatments fail.
Neupane S, Neupane A, Khan SA, Kausar H.
europepmc   +2 more sources

Paraneoplastic Papuloerythroderma of Ofuji Masquerading as Worsening Psoriasis [PDF]

Psoriasis: Targets and Therapy
Megan Hauptman,1 Nikhil Mehta,2 Frank Wang,1 Lori Lowe,1 Mio Nakamura1 1Department of Dermatology, University of Michigan, Ann Arbor, MI, USA; 2Department of Dermatology, Venereology, and Leprosy, All India Institute of Medical Sciences, New Delhi, Delhi,
Hauptman M, Mehta N, Wang F, Lowe L, Nakamura M   +4 more
doaj   +2 more sources

Kindler Syndrome: A Case Report From a Developing Country. [PDF]

Clin Case Rep
ABSTRACT Kindler syndrome can be diagnosed clinically even in the absence of genetic testing. Early recognition of the disease, combined with regular surveillance for malignancy and a multidisciplinary approach that includes attention to psychosexual health, is essential for improving patient outcomes, enhancing quality of life, and promoting social ...
Hraib M, Ali Deeb C, Dib T, Baddour R.
europepmc   +2 more sources