Results 21 to 30 of about 6,541 (223)
Palmoplantar keratoderma with keratoconus
Middle East African Journal of Ophthalmology, 2018 Palmoplantar keratodermas (PPKs) are a rare heterogeneous group of disorders characterized by abnormal thickening of the skin of palms and soles. Ocular manifestations reported with palmer planter keratosis include scleral melanosis, macular deposits, and congenital cataract.
Gupta, Ved Prakash, Chaudhari, Isha
openaire +3 more sources
New and recurrent AAGAB mutations in punctate palmoplantar keratoderma [PDF]
, 2014 Punctate palmoplantar keratoderma type I (PPPK1; also known as Buschke-Fischer-Brauer type; OMIM 148600) is an autosomal dominant disorder of keratinization, characterised by multiple hyperkeratotic lesions on palms and soles that usually start in early ...
Boonen, S. E. +9 more
core +2 more sources
Pathogenic FAM83g palmoplantar keratoderma mutations inhibit the PAWS1::Ck1α association and attenuate wnt signalling [PDF]
, 2019 Background: Two recessive mutations in the FAM83G gene, causing A34E and R52P amino acid substitutions in the DUF1669 domain of the PAWS1 protein, are associated with palmoplantar keratoderma (PPK) in humans and dogs respectively.
A Drozdetskiy +39 more
core +2 more sources
Olmsted syndrome: Report of two cases
Indian Journal of Dermatology, 2011 Olmsted syndrome is an uncommon genetic disorder with symmetrical, diffuse, transgredient, mutilating palmoplantar keratoderma and periorificial hyperkeratosis. Olmsted syndrome in a female patient is particularly rare, and we report two unrelated female
G K Tharini +3 more
doaj +1 more source
Late onset pityriasis rubra pilaris type IV treated with low-dose acitretin [PDF]
, 2016 Pityriasis rubra pilaris is a chronic inflammatory dermatosis of unknown etiology and great clinical variability. It has been divided into six categories.
Carvalho, S. +3 more
core +1 more source
, 2011 O termo úlcera de Marjolin é usado para designar a transformação maligna que se origina na pele cronicamente lesada. Trata-se de neoplasia mais agressiva do que aquelas não relacionadas com cicatriz e, frequentemente, é subdiagnosticada ou tratada de ...
ALMEIDA, José Roberto Paes de +4 more
core +3 more sources
Ibom Medical Journal, 2023 Pachydermoperiostosis (PDP) is a rare genodermatosis with prominent cutaneous, soft tissue and skeletal manifestations. It can mimic secondary causes of hypertrophic osteoarthropathy such as thyroid acropachy.
Ajani AA +5 more
doaj +1 more source
Plantar keratoderma of Sézary syndrome [PDF]
, 2017 Sézary syndrome is an extremely rare form of cutaneous T-cell lymphoma. It presents suddenly and is associated with a poor prognosis. Clinical recognition is crucial for the diagnostic process and initiation of appropriate treatment.
Fragkos, KC
core +1 more source
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 +5 more
doaj +1 more source
Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin
Case Reports in Dermatology, 2015 Background: Pachyonychia congenita (PC) is a rare autosomal dominant disease whose main clinical features include hypertrophic onychodystrophy and palmoplantar keratoderma.
Fahad Almutawa +5 more
doaj +1 more source