Results 31 to 40 of about 6,541 (219)
, 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
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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
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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
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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
Punctate palmoplantar keratoderma: A case report and literature review
Clinical Dermatology Review, 2023 Punctured palmoplantar keratodermas are rare autosomal-dominant keratodermas presenting as asymptomatic, tiny hyperkeratotic pigmented papules on the palms and soles.
J P Prathibha, Vijay Venkataraj Aithal
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Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity [PDF]
, 2017 Heritable forms of ichthyoses, also referred to as generalized Mendelian disorders of cornification, are phenotypically a highly heterogeneous group of conditions caused by mutations in a number of genes playing a role in keratinocyte differentiation ...
Abiri, Maryam +12 more
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A case of ichthyosis hystrix: Unusual manifestation of this rare disease
Indian Journal of Dermatology, 2014 Ichthyosis hystrix is a term used to describe an ichthyosiform dermatosis which is characterized by hyperkeratotic spiny scales mainly over extensor aspects of limbs with palmoplantar keratoderma and occasionally associated with deafness and neurological
Projna Biswas +5 more
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Papillon- Lefèvre Syndrome: report of a case and its management [PDF]
, 2012 Papillon-Lefèvre Syndrome (PLS) is a rare autosomal recessive disorder first described by two French physicians, Papillon and Lefèvre in 1924. The disorder is characterized by diffuse palmoplantar keratoderma and precocious aggressively progressing ...
Kalra, Namita +2 more
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Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms [PDF]
, 2015 Research on iRHOM2 in the Kelsell group is funded by an MRC project grant, a MRC Clinical Fellowship (to TM) and a Cancer Research UK program ...
A Ellis +28 more
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