Keyword

keratoderma

Description: A skin condition characterized by abnormal thickening of the palms or soles, which may be inherited or associated with other diseases.

Primary topic: Genetic and rare skin diseases. (53%)

Wikidata ID: wiki/Q1739195

OpenAlex ID: keywords/keratoderma

Mutation in WNT10A Is Associated with an Autosomal Recessive Ectodermal Dysplasia: The Odonto-onycho-dermal Dysplasia

2007 · Lynn Adaimy, Eliane Chouery, et al. · The American Journal of Human Genetics · 250

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins

2000 · Raquel Rabionet, Paolo Gasparini, et al. · Human Mutation · 216

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Ectodermal dysplasias

2004 · Peter H. Itin, Susanna K. Fistarol · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 181

Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2

1998 · Covello, Smith, et al. · British Journal of Dermatology · 181

Pityriasis Rubra Pilaris

2010 · Annette Klein, Michael Landthaler, et al. · American Journal of Clinical Dermatology · 153

Transient reactive papulotranslucent acrokeratoderma

1996 · Joseph C. English, Martha L. McCollough · Journal of the American Academy of Dermatology · 127

Genotypic and Clinical Spectrum of Self-Improving Collodion Ichthyosis: ALOX12B, ALOXE3, and TGM1 Mutations in Scandinavian Patients

2009 · Anders Vahlquist, Anette Bygum, et al. · Journal of Investigative Dermatology · 118

Keratitis, ichthyosis, and deafness (KID) syndrome. Vertical transmission and death from multiple squamous cell carcinomas

1987 · J. J. Grob · Archives of Dermatology · 112

Treatment of classic pityriasis rubra pilaris

1994 · Charles H. Dicken · Journal of the American Academy of Dermatology · 106

Skin diseases in Bamako (Mali)

1998 · Antoine Mahé, Idrissa Ah.. Cissé, et al. · International Journal of Dermatology · 94

Erythroderma: Review of 82 Cases

1986 · LLOYD E. KING, RAYMOND G. DUFRESNE, et al. · Southern Medical Journal · 87

CEDNIK syndrome results from loss-of-function mutations in SNAP29

2010 · D. Fuchs-Telem, H. Stewart, et al. · British Journal of Dermatology · 85

Coexistence of acanthosis nigricans and the sign of Leser-Trélat in a patient with gastric adenocarcinoma: A case report and literature review

2000 · James S.M. Yeh, Stephanie E. Munn, et al. · Journal of the American Academy of Dermatology · 77

Targeted epidermal expression of mutant Connexin 26(D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders

2003 · G. Bakirtzis · Human Molecular Genetics · 73

WNT10A missense mutation associated with a complete Odonto-Onycho-Dermal Dysplasia syndrome

2009 · Sadia Nawaz, Joakim Klar, et al. · European Journal of Human Genetics · 70

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Erythroderma with atypical lymphocytes (Sézary syndrome)

1973 · R.K. Winkelmann, James W. Linman · The American Journal of Medicine · 68

Degenerative collagenous plaques of the hands and acrokeratoelastoidosis: pathogenesis and relationship with knuckle pads

2000 · Jorge Abulafia, Raúl A. Vignale · International Journal of Dermatology · 67

Ocular Pathology of the Maroteaux-Lamy Syndrome (Systemic Mucopolysaccharidosis Type VI)

1972 · Kenneth R. Kenyon, Trexler M. Topping, et al. · American Journal of Ophthalmology · 65

Papillon-Lefevre syndrome: a study of the long-term clinical course of recurrent pyogenic infections and the effects of etretinate treatment

1988 · R. BERGMAN, R. FRIEDMAN-BIRNBAUM · British Journal of Dermatology · 64

Akrokerato-elastoidosis; a hitherto undescribed skin disease.

1953 · O G COSTA · PubMed · 58

Cole Disease Results from Mutations in ENPP1

2013 · Ori Eytan, Fanny Morice-Picard, et al. · The American Journal of Human Genetics · 57

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Infliximab for the Treatment of Adult-Onset Pityriasis Rubra Pilaris

2005 · Wennie C. Liao · Archives of Dermatology · 55

Best treatment practices for pachyonychia congenita

2013 · I. Goldberg, D. Fruchter, et al. · Journal of the European Academy of Dermatology and Venereology · 53

A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis.

2006 · Susan C Kelly, Paulina Ratajczak, et al. · PubMed · 52

Molecular abnormalities of the desmosomal protein desmoplakin in human disease

2005 · J. E. Lai Cheong, V. Wessagowit, et al. · Clinical and Experimental Dermatology · 52

Works count: 1,495

Citation count: 6,820