Results 91 to 100 of about 8,727 (222)

Analysis of the human diseasome reveals phenotype modules across common, genetic, and infectious diseases [PDF]

, 2014
Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model organisms, as are signs
Gkoutos, Georgios V, Hoehndorf, Robert, Schofield, Paul N   +2 more
core   +2 more sources

Dimethyl fumarate for treating Papillon–Lefèvre syndrome

JAAD Case Reports, 2023
Abdullah Al-Omair, MD, Muteb Alharbi, MD, Asem Almesfer, MD   +2 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

Keratoderma blenorrhagica [PDF]

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

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 blennorrhagica [PDF]

BMJ Case Reports, 2017
Ilda Coelho, Sara Costa, Sofia Silva Mendes, Guilherme Castro Gomes   +3 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

A Case with Pachyonychia Congenita and B-cell Lymphoma

Acta Medica Iranica, 2014
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, Thiago Pereira Loures, João Daniel Bringel Rego, Christiane Aires Teixeira, Kayursula Dantas de Carvalho, Afonso Lucas Oliveira Nascimento   +5 more
doaj  

Spiny keratoderma: The gritty tale

Indian Journal of Dermatopathology and Diagnostic Dermatology, 2018
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, Chirag Desai, Shweta Agarwal, Sharmila Patil   +3 more
doaj   +1 more source

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, N Hema, S Jayakumar, B Parveen   +3 more
doaj   +1 more source