Results 91 to 100 of about 8,647 (203)
A Case with Pachyonychia Congenita and B-cell Lymphoma
Pachyonychia congenital (PC) is a rare autosomal dominant genodermatosis characterized hyperkeratosis affecting the nails and palmoplantar areas, oral leukokeratosis, and cystic lesions. A 39-year-old woman with PC type 1 (Jadassohn-Lewandowsky syndrome)
Vitorino Modesto dos Santos +5 more
doaj
Spiny keratoderma: The gritty tale
Spiny keratoderma is a rare disease; first described by Brown as “punctuate keratoderma”. It is characterized by asymptomatic keratotic pin point papules over palms and soles, resembling the old fashioned music box spine.
Astuty Apurwa +3 more
doaj +1 more source
Study of three common mitochondrial mutations in Arab patients with nonsyndromic hearing loss in Khuzestan province, I.R.Iran [PDF]
زمینه و هدف : ناشنوایی یکی از شایع ترین اختلالات حسی –عصبی است که در هر 1000 تولد زنده رخ می دهد. بیشتر ناشنوایی ها منشا ژنتیکی داشته و حدود 2-0 موارد ناشنوایی مربوط به جهش در ژن های میتوکندریایی است.
Abolhasani, Marzieh. +9 more
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Adult-onset porokeratotic eccrine ostial and dermal duct nevus:dermatoscopic findings and treatment with tazarotene [PDF]
Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare dermatosis initially described as ‘comedo nevus’ and renamed ‘PEODDN’; it has also been referred to as linear eccrine nevus with comedones, porokeratotic eccrine ostial and hair ...
Alomran, Husain, Kanitakis, Jean
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Dimethyl fumarate for treating Papillon–Lefèvre syndrome
Abdullah Al-Omair, MD +2 more
doaj +1 more source
Olmsted syndrome: Report of two cases
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
Manifestaciones cutáneas de las enfermedades de tiroides: Revisión [PDF]
Los trastornos del tiroides son muy prevalentes en la práctica clínica. Un estudio epidemiológico europeo destaca que casi la mitad de los pacientes con enfermedad tiroidea permanecen sin diagnosticar.
Lucas San Atanasio, Delia de
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Bullous Congenitalichthyosiform Erythroderma - PS 1 Type
We describe a case of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis) with severe transgradient type of palmoplantar keratoderma. It occurred in a thirty year old man, who was born out of first degree consanguineous marriage.
Dave Shriya +2 more
doaj

