Results 61 to 70 of about 27,969 (160)

Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing

American Journal of Medical Genetics Part A, Volume 194, Issue 11, November 2024.
Abstract The purpose of this study is to gain insights into potential genetic factors contributing to the infant's vulnerability to Sudden Unexpected Infant Death (SUID). Whole Genome Sequencing (WGS) was performed on 144 infants that succumbed to SUID, and 573 healthy adults.
Angela M. Bard, Lindsay V. Clark, Erdal Cosgun, Kimberly A. Aldinger, Andrew Timms, Lely A. Quina, Juan M. Lavista Ferres, David Jardine, Elisabeth A. Haas, Tatiana M. Becker, Chelsea M. Pagan, Avni Santani, Diego Martinez, Soumitra Barua, Zakkary McNutt, Addie Nesbitt, Edwin A. Mitchell, Jan‐Marino Ramirez   +17 more
wiley   +1 more source

Palmoplantar Keratoderma in Slurp2-Deficient Mice [PDF]

, 2016
SLURP1, a member of the lymphocyte antigen 6 protein family, is secreted by suprabasal keratinocytes. Mutations in SLURP1 cause a palmoplantar keratoderma (PPK) known as mal de Meleda.
Barnes, Richard H, Larsson, Mikael, Tu, Yiping, Tontonoz, Peter, Fong, Loren G, Hong, Cynthia, Allan, Christopher M, Young, Lorraine C, Procaccia, Shiri, Young, Stephen G, Allan, Bernard B, Beigneux, Anne P, Tran, Deanna   +12 more
core   +1 more source

The Network of Mystery: Unraveling Atypical Dermatopathia Pigmentosa Reticularis

Clinical Dermatology Review
Dermatopathia pigmentosa reticularis (DPR) is a rare ectodermal dysplasia characterized by generalized reticulate hyperpigmentation, nonscarring alopecia, and onychodystrophy, caused by autosomal dominant mutations in KRT14. Fewer than 25 cases have been
Spandana Devarahalli Krishnamurthy, Eshwari Logannathan, K Chandan Srinivasa, M Madhu   +3 more
doaj   +1 more source

Wood's light as a noval diagnostic tool in aquagenic keratoderma

Skin Health and Disease, Volume 4, Issue 3, June 2024.
In this paper, we report the utility and novelty of Wood's light as a bedside adjunct tool to aid in diagnosing aquagenic keratoderma. To our knowledge, this is the first case reporting the use of Wood's light in diagnosing aquagenic keratoderma.
Fares A. Alkhayal, Abdullah M. AlMuqrin
wiley   +1 more source

Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein‐1 mutation: A case report

Clinical Case Reports, Volume 12, Issue 5, May 2024.
Key Clinical Message Keratosis palmoplantaris striata type I (SPPK‐I) is a rare autosomal‐dominant type of hereditary epidermolytic palmoplantar keratoderma, which can be caused by mutations in desmoglein‐1 (DSG‐1). Patients suffer from hyperkeratotic plaques and painful palmoplantar fissures.
Kevin Koschitzki, Bernadett Kurz, Julia Schreml, Judith Fischer, Alrun Hotz, Christoph M. Hammers, Mark Berneburg, Dennis Niebel, Stephan Schreml   +8 more
wiley   +1 more source

Palmoplantar keratoderma: an adverse reaction to influenza vaccination.

, 2022
Acquired palmoplantar keratoderma (PPK) is a rare group of conditions with a number of aetiologies, including adverse reactions to drugs.
Rademaker, Marius, Gardner, David, Lim, David, Oakley, Amanda   +3 more
core   +1 more source

AAGAB Mutations in 18 Canadian Families With Punctate Palmoplantar Keratoderma and a Possible Link to Cancer [PDF]

Journal of Cutaneous Medicine and Surgery, 2019
Background: Punctate palmoplantar keratoderma type 1 (PPPK1) presents in late childhood to adulthood with multiple small discrete hyperkeratotic papules on palms and soles. PPPK1 is an autosomal dominant skin disease caused by AAGAB mutations.
Youssef Elhaji, Cherise Hedlin, Anu Nath, Emma L. Price, Christopher Gallant, Stacey Northgrave, Peter R. Hull   +6 more
openaire   +2 more sources

Palmoplantar keratoderma and associated syndromes.

, 1995
This article focuses on the current state of knowledge concerning the characterization and classification of palmoplantar keratoderma and associated syndromes. In addition, therapeutic options are discussed. Exact diagnosis enables dermatologists to give
Itin PH, Lautenschlager S
core   +1 more source

Abnormal Cornified Cell Envelope Formation in Mutilating Palmoplantar Keratoderma Unrelated to Epidermal Differentiation Complex [PDF]

, 1998
Mutilating palmoplantar keratoderma represents a heterogeneous group of disorders, unified by characteristic mutilation of the fingers or toes, associated with palmoplantar keratoderma. Although loricrin gene mutations were recently reported in Vohwinkel'
Christiano, Angela M., Angela M. Christiano, Masashi Akiyama, Akiyama, Masashi, Shimizu, Hiroshi, Yoneda, Kozo, Kozo Yoneda, Hiroshi Shimizu   +7 more
core   +1 more source

[Autosomal dominant punctate palmoplantar keratoderma].

Actas dermo-sifiliograficas, 2006
Hereditary punctate palmoplantar keratoderma or Buschke-Fisher-Brauer disease is a rare form of keratoderma that follows a pattern of autosomal dominant inheritance with variable penetrance. The age of onset is usually between 12 and 30 years of age. Clinically, it is characterized by the gradual appearance of multiple punctate hyperkeratotic papules ...
Susana, Mallo, Ana I, Bernal, María Inés, Fernández-Canedo, Carlos, González-Hermoso, Magdalena, de Troya-Martín   +4 more
openaire   +1 more source