Results 101 to 110 of about 4,905 (212)

Aquagenic palmoplantar keratoderma with dorsal hand involvement in an adolescent female

, 2016
Aquagenic palmoplantar keratoderma (APK) is a rare, acquired condition that presents as papules on the palms, and rarely the soles, upon immersion in water.
Rodney, Ife J., Angra, Divya, Angra, Kunal   +2 more
core   +1 more source

Frameshift Mutation in the V2 Domain of Human Keratin 1 Results in Striate Palmoplantar Keratoderma

, 2002
The striate form of palmoplantar keratoderma is a rare autosomal dominant disorder affecting palm and sole skin. Genetic heterogeneity of striate palmoplantar keratoderma has been demonstrated with pathogenic mutations in the desmosomal proteins ...
Smith, Frances J., Gabrielle H. Ashton, McLean, W H I, Whittock, Neil V., McLean, W.H. Irwin, Mallipeddi, R, McGrath, John A., Frances J. Smith, Patricia Dopping-Hepenstal, McGrath, J A, John A. McGrath, Rajeev Mallipeddi, Ashton, Gabrielle H., Dopping-Hepenstal, Patricia, Hong Wan, Griffiths, W. Andrew, Robin A. Eady, Wan, Hong, Griffiths, W A, Eady, R A, Eady, Robin A., Mallipeddi, Rajeev, Smith, F J, W. Andrew Griffiths, Wan, H, Dopping-Hepenstal, P, W.H. Irwin McLean, Whittock, N V, Ashton, G H, Neil V. Whittock   +29 more
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Two Cases of Primarily Palmoplantar Keratoderma Associated with Novel Mutations in Keratin 1

, 2002
Mutations in keratin 1 were initially described in the classical form of bullous congenital ichthyosiform erythroderma (also known as epidermolytic hyperkeratosis).
Paller, Amy S., Compton, John, Atherton, David J., Irvine, Alan D., Terron-Kwiatkowski, Ana, Irwin McLean, W.H.   +5 more
core   +1 more source

New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin C

, 2002
Item does not contain fulltextWe report a mother and daughter with a syndrome of hypotrichosis, striate palmoplantar keratoderma, onychogryphosis, periodontitis, acro-osteolysis and psoriasis-like skin lesions.
Steijlen, P.M., M.A.M. Van Steensel, M. Van Geel, Steensel, M.A.M. van, Geel, M. van, P.M. Steijlen   +5 more
core   +1 more source

A Case Report of Transgrediant Palmoplantar Keratoderma (Mal de Meleda)

, 2015
: Mal de Meleda is a rare autosomal recessive transgredient keratoderma .Onset is in early childhood, and the development of hyperkeratosis is preceded by erythema. Patches of waxy ivory-yellow hyperkeratosis extend across the whole palms and soles, and
Darvish Damavandi F., Daraei Z., Shamsadini S.A.,
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Pathogenic Variants in the ABCA12 Gene Associated to Autosomal Recessive Congenital Ichthyosis: Report of an Attenuated Phenotype

European Medical Journal Dermatology
Congenital ichthyosis represents keratinisation disorders characterised by abnormal skin scaling across the entire body, leading to a red, denuded, and scaly appearance.
Gabriela Mantilla Beltrán, Ana María Navarro Pinilla, Diego Andrés Padilla Mantilla, Alfonso Suárez Camacho, Mónica Paola Novoa Candia   +4 more
doaj   +1 more source

Linear Palmoplantar Keratoderma

Actas Dermo-Sifiliográficas (English Edition), 2018
A, Imbernón-Moya, A, Aguilar-Martínez, E, Vargas-Laguna   +2 more
openaire   +2 more sources

Vohwinkel syndrome (mutilating keratoderma) associated with craniofacial anomalies

, 1994
We describe a female patient with Vohwinkel syndrome (mutilating palmoplantar keratoderma), who in addition showed cleft lip and palate, microcephaly, facial asymmetry, and other anomalies.We describe a female patient with Vohwinkel syndrome (mutilating ...
Bettoli V, ZAMPINO, Maria Rosaria, Gandini E, Calzolari E., M. R. Zampino, E. Gandini, SENSI, Alberto, A. Sensi, E. Calzolari, V. Bettoli   +9 more
core   +1 more source

MAL De Meleda Type Of Keratoderma

Indian Journal of Dermatology, 2001
A child born of a consanguineous marriage showing characteristic features of Mal de Meleda type of palmoplantar keratoderma is reported for its rarity and clinical interest.
Pandhi Deepika, Reddy BSN
doaj  

Naxos Disease

, 2005
Since 1995, according to the World Health Organisation’s classification of cardiomyopathies, Naxos disease has been considered as the recessive form of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C).1 It is a stereotype association of
Tsatsopoulou, Adalena, Nikos Protonotarios, Adalena Tsatsopoulou, Protonotarios, Nikos   +3 more
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